hereditary eye diseases

Summary

Summary: Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder.

Top Publications

  1. ncbi Persistence of fetal vasculature in a patient with Knobloch syndrome: potential role for endostatin in fetal vascular remodeling of the eye
    Elia J Duh
    The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Ophthalmology 111:1885-8. 2004
  2. ncbi Mutations in collagen 18A1 and their relevance to the human phenotype
    Maria Rita Passos-Bueno
    Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano, Instituto de Biociencias, USP, 05508 900 Sao Paulo, SP, Brazil
    An Acad Bras Cienc 78:123-31. 2006
  3. ncbi Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration
    N F Shroyer
    Program in Cell and Molecular Biology, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 10:2671-8. 2001
  4. ncbi Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families
    Susana E Kliemann
    Department of Pediatrics, Neuropediatrics Division, Santa Casa of Sao Paulo School of Medicine, Sao Paulo, Brazil
    Am J Med Genet A 119:15-9. 2003
  5. ncbi Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin
    Olivier Menzel
    Division of Medical Genetics, University of Geneva Medical School and University Hospital of Geneva, Geneva, Switzerland
    Hum Mutat 23:77-84. 2004
  6. ncbi A phenotypic variant of Knobloch syndrome
    Theresa Anne Williams
    Birmingham and Midland Eye Centre, City Hospital, Birmingham, England
    Ophthalmic Genet 29:85-6. 2008
  7. ncbi Hereditary X-linked juvenile retinoschisis: a review of the role of Müller cells
    Cornelia M Mooy
    Pathology Laboratory Dordrecht, Jkvr Van den Santheuvelweg 2A, 3317NL Dordrecht, The Netherlands
    Arch Ophthalmol 120:979-84. 2002
  8. pmc Pellucid marginal degeneration coexistent with cornea plana in one member of a family exhibiting a novel KERA mutation
    A O Khan
    Br J Ophthalmol 89:1538-40. 2005
  9. ncbi Hereditary hyperferritinemia cataract syndrome: ocular, genetic, and biochemical findings
    A R Ismail
    Southampton Eye Unit, UK
    Eur J Ophthalmol 16:153-60. 2006
  10. ncbi [Progressive retinal atrophy in Abyssinian and Somali cats in the Netherlands (1981-2001)]
    S C Djajadiningrat-Laanen
    Afdeling Oogheelkunde, Hoofdafdeling Geneeskunde van Gezelschapsdieren, Faculteit der Diergeneeskunde, Universiteit Utrecht, Postbus 80154, 3508 TD Utrecht
    Tijdschr Diergeneeskd 127:508-14. 2002

Research Grants

Detail Information

Publications157 found, 100 shown here

  1. ncbi Persistence of fetal vasculature in a patient with Knobloch syndrome: potential role for endostatin in fetal vascular remodeling of the eye
    Elia J Duh
    The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Ophthalmology 111:1885-8. 2004
    ..To report a child with Knobloch syndrome (KS) with features of persistent fetal vasculature (PFV) and to discuss the possible role of endostatin in vascular remodeling of the fetal eye...
  2. ncbi Mutations in collagen 18A1 and their relevance to the human phenotype
    Maria Rita Passos-Bueno
    Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano, Instituto de Biociencias, USP, 05508 900 Sao Paulo, SP, Brazil
    An Acad Bras Cienc 78:123-31. 2006
    ..This review besides illustrating the functional importance of collagen XVIII in eye development and its structure maintenance throughout life, it also shows its role in other tissues and organs, such as nervous system and kidney...
  3. ncbi Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration
    N F Shroyer
    Program in Cell and Molecular Biology, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 10:2671-8. 2001
    ..Of the 21 missense ABCR mutations reported in patients with AMD, 16 (76%) show abnormalities in protein expression, ATP-binding or ATPase activity. We infer that carrier relatives of STGD patients are predisposed to develop AMD...
  4. ncbi Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families
    Susana E Kliemann
    Department of Pediatrics, Neuropediatrics Division, Santa Casa of Sao Paulo School of Medicine, Sao Paulo, Brazil
    Am J Med Genet A 119:15-9. 2003
    ..Recently, the gene responsible for the syndrome, mapped to 21q22.3, was identified. The present study reports on four new cases, revealing the existence of neuronal migratory defects associated with the disorder for the first time...
  5. ncbi Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin
    Olivier Menzel
    Division of Medical Genetics, University of Geneva Medical School and University Hospital of Geneva, Geneva, Switzerland
    Hum Mutat 23:77-84. 2004
    ..We named the second unmapped locus for Knobloch syndrome KNO2. Mutation analysis excluded COL15A1, a member of the multiplexin collagen subfamily similar to COL18A1, as being responsible for KNO2...
  6. ncbi A phenotypic variant of Knobloch syndrome
    Theresa Anne Williams
    Birmingham and Midland Eye Centre, City Hospital, Birmingham, England
    Ophthalmic Genet 29:85-6. 2008
    ..This case illustrates a new phenotypic variant of this syndrome...
  7. ncbi Hereditary X-linked juvenile retinoschisis: a review of the role of Müller cells
    Cornelia M Mooy
    Pathology Laboratory Dordrecht, Jkvr Van den Santheuvelweg 2A, 3317NL Dordrecht, The Netherlands
    Arch Ophthalmol 120:979-84. 2002
  8. pmc Pellucid marginal degeneration coexistent with cornea plana in one member of a family exhibiting a novel KERA mutation
    A O Khan
    Br J Ophthalmol 89:1538-40. 2005
  9. ncbi Hereditary hyperferritinemia cataract syndrome: ocular, genetic, and biochemical findings
    A R Ismail
    Southampton Eye Unit, UK
    Eur J Ophthalmol 16:153-60. 2006
    ..To describe the cataract morphology and genetic and biochemical findings in a four-generation family with hereditary hyperferritinemia cataract syndrome (HHCS)...
  10. ncbi [Progressive retinal atrophy in Abyssinian and Somali cats in the Netherlands (1981-2001)]
    S C Djajadiningrat-Laanen
    Afdeling Oogheelkunde, Hoofdafdeling Geneeskunde van Gezelschapsdieren, Faculteit der Diergeneeskunde, Universiteit Utrecht, Postbus 80154, 3508 TD Utrecht
    Tijdschr Diergeneeskd 127:508-14. 2002
    ....
  11. pmc Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity
    H Kondo
    Department of Ophthalmology, Fukuoka University School of Medicine, 7 45 1 Nanakuma, Jonan ku, Fukuoka 814 0180, Japan
    Br J Ophthalmol 87:1291-5. 2003
    ..To search for mutations in the frizzled 4 (FZD4) gene in patients with familial exudative vitreoretinopathy (FEVR) and to delineate the defective gene associated clinical features...
  12. ncbi High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1
    Allan J Richards
    Department of Pathology, University of Cambridge, Cambridge, United Kingdom
    Hum Mutat 27:696-704. 2006
    ..Using splicing reporter constructs we demonstrate that a mutant GC donor splice site in intron 51 can be spliced normally; this contributed to the predominantly ocular phenotype in the family in which it occurred...
  13. ncbi Type 1 Stickler syndrome: a histological and ultrastructural study of an untreated globe
    M E MacRae
    Princess Alexandra Eye Pavilion, Chalmers Street, Edinburgh, UK
    Eye (Lond) 20:1061-7. 2006
    ..To present a histological and ultrastructural study of an untreated globe in a patient with genetically confirmed type 1 Stickler syndrome...
  14. ncbi A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration
    Sanjoy K Gupta
    University of Ottawa Eye Institute, Ottawa, ON, Canada
    Am J Ophthalmol 133:203-10. 2002
    ..To describe the genetic basis of an autosomal dominant vitreoretinopathy in a large French-Canadian kindred...
  15. ncbi Severe fascioscapulohumeral muscular dystrophy presenting with Coats' disease and mental retardation
    Laurence A Bindoff
    Department of Neurology, Haukeland University Hospital, N 5021 Bergen, Norway
    Neuromuscul Disord 16:559-63. 2006
    ..Cryotherapy was successful in maintaining sight in the other affected eyes...
  16. ncbi Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family
    Larry A Donoso
    Henry and Corinne Bower Laboratory, Wills Eye Hospital, Philadelphia, Pennsylvania 19107, USA
    Am J Ophthalmol 134:720-7. 2002
    ..To describe the clinical features and identify the mutation responsible for an autosomal dominant vitreoretinal degeneration occurring in a previously unreported large family...
  17. ncbi Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations
    Edward S Parma
    Retina Specialists of Alabama LLC, Birmingham, Alabama 35205, USA
    Am J Ophthalmol 134:728-34. 2002
    ..To identify the genetic defect and present the ocular and extraocular findings in a large pedigree of predominantly ocular Stickler syndrome...
  18. ncbi Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration
    Dror Sharon
    Ocular Molecular Genetics Institute and the Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114, USA
    Arch Ophthalmol 121:1316-23. 2003
    ..Patients One patient with ESCS, one with GFS, and 20 with CPRD...
  19. ncbi Genomewide homozygosity mapping and molecular analysis of a candidate gene located on 22q13 (fibulin-1) in a previously undescribed vitreoretinal dystrophy
    Maike Weigell-Weber
    Institute of Medical Genetics, University of Zurich, Switzerland
    Arch Ophthalmol 121:1184-8. 2003
    ..To localize the gene that causes an autosomal recessively inherited vitreoretinal dystrophy that has not been described, to our knowledge, and to analyze a candidate gene mapped to 22q13 (fibulin-1 [FBLN1])...
  20. ncbi Clinical description and exclusion of candidate genes in a novel autosomal recessively inherited vitreoretinal dystrophy
    Gian Marco Sarra
    Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland
    Arch Ophthalmol 121:1109-16. 2003
    ..To describe the clinical phenotype of a novel autosomal recessively inherited vitreoretinal dystrophy in one generation of a family originating from eastern Switzerland...
  21. ncbi Goldmann-Favre vitreoretinal degeneration
    F Batioglu
    Department of Vitreoretinal, Eye Clinic, Ankara University, Faculty of Medicine, Ankara, Turkey
    Eur J Ophthalmol 13:307-10. 2003
    ..To describe a case of Goldmann-Favre vitreoretinal degeneration with typical clinical findings...
  22. ncbi Retrospective study of prophylactic random transscleral retinopexy in the Bichon Frise with cataract
    Gretchen M Schmidt
    Eye Care for Animals, Wheeling, IL 60090, USA
    Vet Ophthalmol 7:307-10. 2004
    ..In group 4, 39 eyes had PRTR and phacoemulsification of the cataract; of these 5 (12%) had RRD. The Bichon Frise dog with inherited cataract is at high risk of RRD. PRTR reduces this risk...
  23. ncbi Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene
    Larry A Donoso
    Henry and Corinne Bower Laboratory, Eye Research Institute, Wills Eye Hospital, 900 Walnut Street, Philadelphia, PA 19107, USA
    Surv Ophthalmol 48:191-203. 2003
    ....
  24. ncbi Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy
    Shigeo Yoshida
    Department of Ophthalmology, Kyushu University Graduate School of Medical Sciences, Fukuoka, Japan
    Am J Ophthalmol 138:670-1. 2004
    ..To identify the genetic defect in the FZD4 gene responsible for familial exudative vitreoretinopathy (FEVR) in a Japanese family...
  25. ncbi Genetic linkage of snowflake vitreoretinal degeneration to chromosome 2q36
    Xiaodong Jiao
    Ophthalmic Genetics and Clinical Services Branch, National Eye Institute, Bethesda, Maryland, USA
    Invest Ophthalmol Vis Sci 45:4498-503. 2004
    ....
  26. pmc Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree
    C Toomes
    Molecular Medicine Unit, Clinical Sciences Building, St James s University Hospital, Leeds LS9 7TF, UK
    Br J Ophthalmol 89:194-7. 2005
    ..The aim of this study was to perform linkage analysis in a large family affected with FEVR to determine whether the mutation involved was in one of the three known autosomal dominant FEVR loci or in another as yet unidentified gene...
  27. ncbi Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein
    R C Allen
    Molecular Ophthalmology Laboratory, Center for Macular Degeneration, The University of Iowa Carver School of Medicine, Iowa City, IA 52242, USA
    Eye (Lond) 20:234-41. 2006
    ..To determine the molecular pathology and clinical severity of two pedigrees with a history of early retinal detachment and peripheral retinal vascular abnormalities...
  28. ncbi Vitreous phenotype: a key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosity
    Alan Ang
    Vitreoretinal Service, Addenbrooke s Hospital, Cambridge, United Kingdom
    Am J Med Genet A 143:604-7. 2007
    ....
  29. ncbi Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)
    A Marquardt
    Institut fur Humangenetik, Universitat Wurzburg, D 97074 Wurzburg, Germany
    Hum Mol Genet 7:1517-25. 1998
    ..In conclusion, our data provide strong evidence that mutations in the gene that we have identified cause Best's disease...
  30. pmc Linkage analysis and comparative mapping of canine progressive rod-cone degeneration (prcd) establishes potential locus homology with retinitis pigmentosa (RP17) in humans
    G M Acland
    James A Baker Institute for Animal Health, College of Veterinary Medicine, Cornell University, Ithaca NY 14853, USA
    Proc Natl Acad Sci U S A 95:3048-53. 1998
    ....
  31. ncbi Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family
    Makoto Nakamura
    Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Arch Ophthalmol 121:1028-33. 2003
    ..To describe retinal and optic disc atrophy and a progressive decrease of visual function in 2 Japanese brothers. Both had a mutation in the CACNA1F gene, the causative gene of incomplete congenital stationary night blindness (CSNB)...
  32. ncbi Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis
    B S Shastry
    Eye Research Institute, Oakland University, Rochester, Michigan 48309 4410, USA
    Biochem Biophys Res Commun 256:317-9. 1999
    ..These mutations, which are transmitted through three generations, cosegregated with the disease, and are not found in the unaffected family members and 150 normal X-chromosomes, are likely to be pathogenic in these families...
  33. doi Clinical manifestation of a novel PAX6 mutation Arg128Pro
    Cecilie Bredrup
    Department of Ophthalmology, Haukeland University Hospital, N 5021 Bergen, Norway
    Arch Ophthalmol 126:428-30. 2008
  34. ncbi 11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus
    F Gonzalez-Fernandez
    Departments of Ophthalmology and Pathology Neuropathology, Graduate Program in Neuroscience, University of Virginia Health Sciences Center Charlottesville, VA 22908, USA
    Mol Vis 5:41. 1999
    ..To elucidate the molecular defect we considered the genes for interphotoreceptor retinoid-binding protein (RBP3) and 11-cis retinol dehydrogenase (RDH5) as candidates for this disease...
  35. ncbi Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene
    Y Hotta
    Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan
    Hum Genet 103:142-4. 1998
    ..Clinical features of RS patients with both the Glu72Lys and Pro193Leu mutations indicate that a genotype-phenotype correlation is not recognized in RS...
  36. ncbi Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability
    S Freddi
    Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Parkville, Victoria, Australia
    Am J Med Genet 90:398-406. 2000
    ....
  37. pmc Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen
    Sarah P Meredith
    Vitreoretinal Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
    Br J Ophthalmol 91:1148-51. 2007
    ..Reports published before the causative mutations were discovered suggest heritable bone dysplasias with skeletal malformations may be associated with a vitreoretinopathy...
  38. ncbi Phenotypic heterogeneity in a family with FAP due to a TTR Leu58Arg mutation: a clinicopathologic study
    Yuko Motozaki
    Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, 13 1 Takara machi, Kanazawa 920 8641, Japan
    J Neurol Sci 260:236-9. 2007
    ..However, the mother was characterized by carpal tunnel syndrome and ocular vitreous opacities. Thus, there was considerable phenotypic heterogeneity among family members despite the identical TTR genotype...
  39. pmc Exudative retinopathy in a girl with Alström syndrome due to a novel mutation
    Devina Gogi
    Br J Ophthalmol 91:983-4. 2007
  40. ncbi A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family
    E Pras
    Department of Ophthalmology, Sapir Medical Center, Kfar Saba, Israel
    Invest Ophthalmol Vis Sci 41:3511-5. 2000
    ..To identify the genetic defect causing autosomal recessive cataract in two inbred families...
  41. ncbi Did Edgar Degas have an inherited retinal degeneration?
    Zeynel A Karcioglu
    Tulane University Health Sciences Center, New Orleans, Louisiana, USA
    Ophthalmic Genet 28:51-5. 2007
    ..Retrospective analysis of the famous painter Edgar Degas' eye disease...
  42. ncbi Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus
    C A Driessen
    Department of Ophthalmology, University of Nijmegen, Nijmegen, The Netherlands
    Ophthalmology 108:1479-84. 2001
    ..The authors wanted to investigate whether additional, more severe, mutations in the 11-cis retinol dehydrogenase gene might be responsible for more severe forms of hereditary retinal diseases...
  43. ncbi The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46
    Lars Hansen
    The Wilhelm Johannsen Centre for Functional Genome Research, Institute of Medical Biochemistry and Genetics, University of Copenhagen, Copenhagen, Denmark
    Mol Vis 12:1033-9. 2006
    ..We retrieved the family and performed linkage analysis to determine the disease locus and identify the mutated gene...
  44. ncbi Retinal degeneration in nine Swedish Jämthund dogs
    Eva Hertil
    University Animal Hospital, Swedish University of Agricultural Sciences, PO Box 7040, S 750 07 Uppsala, Sweden
    Vet Ophthalmol 13:110-6. 2010
    ..some adult dogs go blind, so they cannot hunt, the Jämthund dog has historically not been screened for hereditary eye diseases. This report describes nine Swedish Jämthund dogs with retinal degeneration...
  45. ncbi Causes of childhood blindness in Malaysia: results from a national study of blind school students
    S C Reddy
    Department of Ophthalmology, School of Medical Sciences, University Sains Malaysia, Kubang Kerian, Kelantan
    Int Ophthalmol 24:53-9. 2001
    ..Perinatal screening for intrauterine factors and hereditary eye diseases, and appropriate interventional therapy will help in reducing the prevalence of childhood blindness.
  46. ncbi Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8
    Lars Hansen
    Wilhelm Johannsen Centre for Functional Genome Research, Department G, Institute of Medical Biochemistry and Genetics, Panum Institute, University of Copenhagen, Copenhagen, Denmark
    Invest Ophthalmol Vis Sci 48:3937-44. 2007
    ..To unravel the molecular genetic background in families with congenital cataract in association with microcornea (CCMC, OMIM 116150)...
  47. ncbi Sibs with Axenfeld-Rieger anomaly, hydrocephalus, and leptomeningeal calcifications: a new autosomal recessive syndrome?
    U Moog
    Department of Clinical Genetics, Academic Hospital Maastricht, The Netherlands
    Am J Med Genet 78:263-6. 1998
    ..The differential diagnosis is discussed. Of the known syndromes associated with Axenfeld-Rieger anomaly, none could be convincingly applied to the propositae. Possibly, they represent a previously unreported autosomal recessive syndrome...
  48. ncbi Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndrome
    David G Brooks
    Division of Medical Genetics, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Invest Ophthalmol Vis Sci 43:1121-6. 2002
    ..HHCS was diagnosed in this study in one of the first families known to be affected in the United States, and the basis of lens opacities in HHCS was determined...
  49. ncbi The lidgap-Gates (lgGa) mutation for open eyelids at birth maps to mouse chromosome 13
    D M Juriloff
    Department of Medical Genetics, University of British Columbia, Canada
    Mamm Genome 7:403-7. 1996
    ..Evidence is also presented for a common unlinked recessive suppressor of the open eyelids trait caused by lgGa...
  50. ncbi Oligocone trichromacy: clinical and molecular genetic investigations
    Mette K G Andersen
    National Eye Clinic, Kennedy Center, Glostrup, Denmark
    Invest Ophthalmol Vis Sci 51:89-95. 2010
    ..To describe the phenotype and genotype of patients with a diagnosis of oligocone trichromacy (OT)...
  51. ncbi Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome
    Annemarie H van der Hout
    Department of Clinical Genetics, University Hospital, Groningen, The Netherlands
    Hum Mutat 20:236. 2002
    ..Moreover, in mutation screening protocols for COL2A1 one should be aware of the possibility of large deletions, which are not detected by generally used PCR-based methods...
  52. ncbi The spatial order of horizontal cells is not affected by massive alterations in the organization of other retinal cells
    Chiara Rossi
    Istituto di Neuroscienze del Consiglio Nazionale delle Ricerche, Sezione di Neurofisiologia, 56100 Pisa, Italy
    J Neurosci 23:9924-8. 2003
    ..The anti-apoptotic gene bcl2 appears to be a promising tool to rescue inner retinal neurons, increasing the probability that photoreceptor rescue or substitution may be beneficial to subjects suffering from retinal degenerative diseases...
  53. ncbi Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR)
    Carmel Toomes
    Molecular Medicine Unit, University of Leeds, St James s University Hospital, Leeds, UK
    Mol Vis 10:37-42. 2004
    ..The purpose of this study was to screen FZD4 in a large family previously proven to be linked to the EVR1 locus...
  54. ncbi Prenatal diagnosis of muscle-eye-brain disease
    Burcu Balci
    Hacettepe University, Faculty of Medicine, Department of Medical Biology, Sihhiye, Ankara, Turkey
    Prenat Diagn 27:51-4. 2007
    ..To present a family in which it was possible to perform prenatal diagnosis for the recessively inherited muscle-eye-brain disease (MEB) using linkage analysis...
  55. ncbi Hereditary hyperferritinemia-cataract syndrome: prevalence, lens morphology, spectrum of mutations, and clinical presentations
    Jamie E Craig
    Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria
    Arch Ophthalmol 121:1753-61. 2003
    ..To provide a comprehensive description of the clinical presentations, cataract morphology, and molecular basis of hereditary hyperferritinemia-cataract syndrome (HHCS) in 4 Australian pedigrees and to estimate its prevalence...
  56. ncbi [Pseudoxanthoma elasticum: a study of 22 cases]
    H Hammami
    Service de Dermatologie, Hopital Habib Thameur, Tunis, Tunisie
    Rev Med Liege 64:629-32. 2009
    ..The disease was probably of autosomal recessive transmission. Cutaneous lesions were often the first signs. A list of laboratory investigations is useful to search for asymptomatic visceral localizations and specify their frequency...
  57. ncbi [Familial exudative vitreoretinopathy associated with persistence of hyaloid artery]
    K Errais
    Service d Ophtalmologie de l hôpital Charles Nicolle, Tunis, Tunisie
    J Fr Ophtalmol 31:e3. 2008
    ..These two disorders have many common aspects in their pathological process, in particular vascular endothelial growth factor expression, which can explain this association...
  58. ncbi Hereditary hyperferritinemia-cataract syndrome
    Gregory Christiansen
    Medical Eye Center, Medford, Oregon, USA
    J AAPOS 11:294-6. 2007
    ..Routine laboratory tests can establish this diagnosis. We report two unrelated cases that presented in the United States...
  59. pmc Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations
    Wenyu Sun
    Department of Pharmacology, School of Medicine, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, OH 44106 4965, USA
    Vision Res 47:2055-66. 2007
    ..Thus, impairment of retinal structure and function for patients carrying these mutations correlated with the biochemical properties of the mutants...
  60. ncbi Outcomes of surgery for retinal detachment in patients with Stickler syndrome: a comparison of two sequential 20-year cohorts
    Poorna Abeysiri
    Western Eye Hospital, 153 Marylebone Road, London NW15QH, UK
    Graefes Arch Clin Exp Ophthalmol 245:1633-8. 2007
    ..This comparison of 20-year matched cohorts examined patient characteristics, features of detachment, management and anatomical outcome in the two groups using the same definitions as the earlier authors...
  61. ncbi Governmental, university, pharmaceutical, and foundation partnerships to advance translational research in retinal disease
    Stephen J Ryan
    Doheny Eye Institute and Ophthalmology at The Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA
    Retina 25:S82. 2005
  62. ncbi The electroretinogram components in Abyssinian cats with hereditary retinal degeneration
    Jennifer J Kang Derwent
    Department of Biomedical Engineering, Northwestern University, Evanston, IL 60208, USA
    Invest Ophthalmol Vis Sci 47:3673-82. 2006
    ..To examine phototransduction using the a-wave and other aspects of retinal function with the intraretinal b- and c-waves at different stages of an inherited photoreceptor degeneration in Abyssinian cats...
  63. pmc An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome
    S H Chavala
    Br J Ophthalmol 89:1065-6. 2005
  64. ncbi Genetics of hereditary vitreoretinal degenerations
    Sophia I Pachydaki
    Ophthalmology Department, Retina Service, Massachusetts Eye and Ear Infirmary, Harvard Medical School, 243 Charles Street, Boston, MA 02114, USA
    Semin Ophthalmol 22:219-27. 2007
    ..Accurate diagnosis is important in order to offer effective screening and genetic counseling and appropriate ophthalmological as well as systemic clinical surveillance...
  65. ncbi [Variability of clinical manifestations in the family with Axenfeld-Rieger syndrome]
    Anna Kaminska
    Katedry i Kliniki Okulistyki II Wydziatu Lekarskiego Akademii Medycznej w Warszawie
    Klin Oczna 109:321-6. 2007
    ..This study presents various clinical manifestations of Axenfeld-Rieger syndrome within one family...
  66. ncbi Developments in molecular genetics and electrophysiology in inherited retinal disorders
    Sten Andreasson
    Department of Ophthalmology, University Hospital of Lund, Lund, Sweden
    Acta Ophthalmol Scand 84:161-8. 2006
    ..This review is based on 20 years of research at the Department of Ophthalmology in Lund...
  67. ncbi [Evaluation of fundus autofluorescence in hereditary retinal diseases using Heidelberg Retina Angiograph2]
    Monique Côco
    Curso de Tecnologia Oftálmica, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brazil
    Arq Bras Oftalmol 70:739-45. 2007
    ..To define characteristics of the fundus autofluorescence examination, verifying usefulness in the diagnosis and care of hereditary retinal diseases...
  68. pmc Early transposable element insertion in intron 9 of the Hsf4 gene results in autosomal recessive cataracts in lop11 and ldis1 mice
    Elijah Talamas
    Department of Ophthalmology, Eye Institute, Medical College of Wisconsin, Milwaukee, WI 53226, USA
    Genomics 88:44-51. 2006
    ..In humans, mutations in HSF4 have been associated with both autosomal dominant and recessive cataracts. The lop11 mouse is an excellent resource for evaluating the role of Hsf4 in transparency of the lens...
  69. ncbi Snowflake vitreoretinal degeneration: follow-up of the original family
    Mike M Lee
    Department of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, Texas, USA
    Ophthalmology 110:2418-26. 2003
    ..The ocular findings, systemic features, and genetic loci distinguishing known genetic causes of vitreoretinal degenerations were studied in the original Snowflake family...
  70. ncbi Transport of trace elements in lenses of normal and hereditary cataract UPL rats
    Tomohiro Nabekura
    Faculty of Pharmaceutical Sciences, Niigata University of Pharmacy and Applied Life Sciences, Kamishin ei cho, Niigata, 950 2081, Japan
    Toxicology 191:227-32. 2003
    ..The different transport characteristics of trace elements in the lenses of normal and UPL cataract rats, especially the higher accumulation of Se in UPL rat lenses, may be implicated in cataract development...
  71. ncbi Stickler syndrome: clinical care and molecular genetics
    David W Parke
    Am J Ophthalmol 134:746-8. 2002
  72. ncbi Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy
    B S Shastry
    Eye Research Institute, Oakland University, Rochester, Michigan 48309, USA
    Genomics 27:341-4. 1995
    ..Additionally, a polymorphic missense mutation (H127R) was detected in a severely affected patient...
  73. ncbi Genetically distinct autosomal dominant posterior polar cataract in a four-generation Japanese family
    K Yamada
    Department of Human Genetics, Nagasaki University School of Medicine, Japan
    Am J Ophthalmol 129:159-65. 2000
    ....
  74. ncbi Prenatal diagnosis of Pierre-Robin sequence as part of Stickler syndrome
    Marie Soulier
    Departement de Genetique Medicale, Hopital d Enfants de la Timone, Marseille, France
    Prenat Diagn 22:567-8. 2002
    ..Here, in a context of familial Stickler syndrome, making the prenatal diagnosis of PRS as part of Stickler syndrome allowed us to reassure the parents and to anticipate airway trouble at the child's birth...
  75. ncbi An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12
    K Yamada
    Department of Human Genetics, Nagasaki University School of Medicine, Japan
    Eur J Hum Genet 8:535-9. 2000
    ..The mapping of the CPP3 locus to 20p12-q12 not only expands our understanding of the genetic heterogeneity in autosomal dominant posterior polar cataracts but also is a clue for the positional cloning of the disease gene...
  76. ncbi Phacoemulsification in spherophakia with corneal touch
    Anders Behndig
    Department of Clinical Science Ophthalmology, Umea University Hospital, Umea, SE 901 85 Sweden
    J Cataract Refract Surg 28:189-91. 2002
    ..With a careful approach, the procedure was uneventful and the outcome successful. Modern small-incision cataract surgery techniques are of great benefit in this type of complicated case...
  77. ncbi Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus
    H Yamamoto
    Berman Gund Laboratory for the Study of Retinal Degenerations and the Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, USA
    Nat Genet 22:188-91. 1999
    ..Our results suggest that mutant alleles in RDH5 are a cause of fundus albipunctatus, a rare form of stationary night blindness characterized by a delay in the regeneration of cone and rod photopigments...
  78. ncbi [Stickler's syndrome--an underdiagnosed condition?]
    C Klingenberg
    Barneavdelingen, Regionsykehuset i Tromsø 9038 Tromsø
    Tidsskr Nor Laegeforen 121:3172-5. 2001
    ..Stickler's syndrome is an autosomal dominantly inherited connective tissue disorder characterised by ocular, orofacial, skeletal and auditory features. The estimated prevalence is 1:10,000...
  79. ncbi Loss of anterior chamber-associated immune deviation (ACAID) in aged retinal degeneration (rd) mice
    U Welge-Lussen
    Department of Anatomy II, University of Erlangen Nurnberg, Erlangen, Germany
    Invest Ophthalmol Vis Sci 40:3209-14. 1999
    ..To determine whether the capacity to induce ACAID by antigen injection into the anterior chamber is altered in animals with genetically determined retinal degeneration and increased age...
  80. ncbi Inheritance of strabismus and the gain of using heredity to determine populations at risk of developing strabismus
    M Abrahamsson
    Institute of Clinical Neuroscience, Department of Ophthalmology, Goteborg University, Molndal, Sweden
    Acta Ophthalmol Scand 77:653-7. 1999
    ..For centuries it has been recognized that strabismus is hereditary. Identifying individuals with a family history of squinting could give access to a risk population for a selective screening...
  81. ncbi X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein
    K Johnson
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh PA 15261, USA
    Clin Genet 50:113-5. 1996
    ..This contrasts with the diversity of mutations seen in the more severe, allelic Norrie disease...
  82. ncbi Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma
    Mirella Bruttini
    Division of Medical Genetics, Department of Molecular Biology, University of Siena, Siena, Italy
    Arch Ophthalmol 121:1034-8. 2003
    ....
  83. ncbi Canine models of ocular disease: outcross breedings define a dominant disorder present in the English mastiff and bull mastiff dog breeds
    J W Kijas
    James A Baker Institute for Animal Health, Cornell University, Ithaca, NY 14853, USA
    J Hered 94:27-30. 2003
    ..These findings suggest that the genetic origin of PRA is often breed specific and underline the value of outcross mating to circumvent problems that act to mask the mode of inheritance...
  84. ncbi [Genetics of iron overloads and hereditary hyperferritinemia cataract syndrome]
    J A García-Erce
    An Med Interna 20:213-4. 2003
  85. ncbi A new syndrome of hereditary congenital corneal opacities, cornea guttata, and corectopia
    Jeong Min Hwang
    Genetic Eye Disease, Cole Eye Institute, Cleveland Clinic Foundation, OH 44195, USA
    Arch Ophthalmol 121:1053-4. 2003
  86. ncbi Heredity versus abnormalities in pregnancy and delivery as risk factors for different types of comitant strabismus
    T Matsuo
    Department of Ophthalmology, Okayama University Medical School, Japan
    J Pediatr Ophthalmol Strabismus 38:78-82. 2001
    ....
  87. ncbi Penetrating keratoplasty in infancy and early childhood
    J J Reidy
    Department of Ophthalmology, State University of New York, School of Medicine and Biomedical Sciences, Buffalo, New York, USA
    Curr Opin Ophthalmol 12:258-61. 2001
    ..Prompt postoperative optical rehabilitation, combined with occlusion therapy when appropriate, is an important determinant of success...
  88. ncbi [Gene therapy of eye diseases]
    Taiji Sakamoto
    Fukuoka Igaku Zasshi 93:204-7. 2002
  89. ncbi Prevalence of mitral valve prolapse in Stickler syndrome
    Nadeem Ahmad
    Department of Ophthalmology, Vitreoretinal Service, Addenbrooke s Hospital, Cambridge, UK
    Am J Med Genet A 116:234-7. 2003
    ..Routine echocardiography screening and use of preoperative antibiotics are unnecessary and should be reserved for those individual cases where there is clear clinical indication...
  90. ncbi Microstrabismus in monozygotic twins
    H Atilla
    Department of Ophthalmology, Ankara University School of Medicine, Ankara, Turkey
    Binocul Vis Strabismus Q 14:307-8. 1999
    ..To report microesotropia in twins as a unique example of the role of heredity in primary microstrabismus...
  91. ncbi NEMO mutational analysis in a Japanese family with incontinentia pigmenti
    H Tada
    Eye (Lond) 21:888-90. 2007
  92. pmc Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25
    D B Gould
    Am J Hum Genet 61:765-8. 1997
  93. pmc Vitamin A and fish oils for retinitis pigmentosa
    Sobharani Rayapudi
    Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, 615 N Wolfe Street, Baltimore, Maryland, USA, 21205
    Cochrane Database Syst Rev 12:CD008428. 2013
    Retinitis pigmentosa (RP) comprises a group of hereditary eye diseases characterized by progressive degeneration of retinal photoreceptors. It results in severe visual loss that may lead to legal blindness...
  94. ncbi Genetic eye research in Tasmania: a historical overview
    David A Mackey
    Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia
    Clin Experiment Ophthalmol 40:205-10. 2012
    Although considerable recent work on hereditary eye diseases in Tasmanian families has been published, much of this depended on a century of meticulous pedigree collection by earlier clinical researchers...
  95. ncbi Mutational analysis and clinical correlation in Leber congenital amaurosis
    S R Dharmaraj
    Wilmer Eye Institute, The Johns Hopkins Center for Hereditary Eye Diseases, Baltimore, Maryland, USA
    Ophthalmic Genet 21:135-50. 2000
    ....
  96. ncbi Congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with progressive cerebellar ataxia
    Kunihiro Yoshida
    Department of Medicine Neurology and Rheumatology, Shinshu University School of Medicine, 3 1 1 Asahi, Matsumoto 390 8621, Japan
    Am J Med Genet A 143:1494-501. 2007
    ..We consider that this family may broaden the spectrum of the clinical features of CFEOM or the related disorders presenting with the CFEOM phenotype...
  97. ncbi Novel human pathological mutations. Gene symbol: FZD4. Disease: familial exudative vitreoretinopathy
    Veronique Vieira
    Faculte de Medecine, Necker Enfants Malades, Paris, France
    Hum Genet 121:650. 2007
  98. pmc Nanoparticle applications in ocular gene therapy
    Xue Cai
    Department of Cell Biology, University of Oklahoma Health Sciences Center, 940 Stanton L Young Boulevard, BMSB 781, Oklahoma City, OK 73104, USA
    Vision Res 48:319-24. 2008
    ..The review also discusses mechanisms of nanoparticle uptake and internalization by cells, obstacles and limitations to the use of this technology, as well as novel methodologies to optimize nanoparticle driven gene expression...
  99. ncbi Molecular genetics for the pediatric ophthalmologist
    Kathryn Bollinger
    Department of Pediatric Ophthalmology and Strabismus, Cole Eye Institute, Cleveland, Ohio 44195, USA
    J Pediatr Ophthalmol Strabismus 44:209-15; quiz 241-2. 2007
    ..Therefore, pediatric ophthalmologists must have a knowledge base that includes basic genetic concepts and their application to current clinical care...
  100. ncbi Retinal oxygenation and oxygen metabolism in Abyssinian cats with a hereditary retinal degeneration
    Lissa Padnick-Silver
    Department of Biomedical Engineering, Northwestern University, Evanston, IL 60208, USA
    Invest Ophthalmol Vis Sci 47:3683-9. 2006
    ..To investigate the effects of a hereditary retinal degeneration on retinal oxygenation and determine whether it is responsible for the severe attenuation of retinal circulation in hereditary photoreceptor degenerations...
  101. ncbi A new betaA1-crystallin splice junction mutation in autosomal dominant cataract
    J B Bateman
    Departments of Ophthalmology, The Children s Hospital, The University of Colorado School of Medicine, Denver, Colorado 80264, USA
    Invest Ophthalmol Vis Sci 41:3278-85. 2000
    ....

Research Grants7

  1. TRANSCRIPTIONAL CONTROL OF DEVELOPING CILIARY EPITHELIUM
    Elena Frolova; Fiscal Year: 2004
    ..Finally, mouse and human homologs of the ciliary epithelium-specific transcription factors will be obtained by searching DNA and protein databases and their relevance to human hereditary eye diseases will be evaluated.
  2. TRANSDUCTION MECHANISMS OF PHOTORECEPTORS
    Fulton Wong; Fiscal Year: 1992
    ..from this study is fundamentally important and has actual value for furthering our understanding of human hereditary eye diseases. The trp mutation affects specifically the photoreceptor; the phenotype is characterized by blindness in ..
  3. MOLECULAR GENETICS TRAINING IN HUMAN GENETICS AND GENE S
    Dwight Stambolian; Fiscal Year: 1990
    ..a capable researcher in the molecular aspects of human genetics and will utilize this background to study hereditary eye diseases. This proposal includes completing a series of molecular genetics courses for basic foundation, a ..
  4. Vestibulocerebellar function in channelopathy mutants
    John Stahl; Fiscal Year: 2004
    ..Thus, the insights into normal cerebellar function generated by this study should also advance our understanding of mechanisms of heritable neurological disease. ..
  5. Cellular Proliferation and Differentiation in the Retina
    Jeffrey Gross; Fiscal Year: 2005
    ..are distributed asymmetrically during retinogenesis and what roles such determinants play in cell fate choices in the retina and 3) to utilize chemical screens for compounds that affect proliferation and differentiation in the retina ..
  6. Biophsyics of Receptor/G-protein Interactions
    OLEG KISSELEV; Fiscal Year: 2007
    ..abstract_text> ..
  7. Conference--The Biology and Chemistry of Vision
    Wolfgang Baehr; Fiscal Year: 2003
    ..Proposed sessions include topics on the biology and physiology of photoreceptors, human genetics and retinal disease, as well as gene therapy of recessive and dominant dystrophies. ..