Genomes and Genes
hereditary eye diseases
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.
Publications157 found, 100 shown here
- Persistence of fetal vasculature in a patient with Knobloch syndrome: potential role for endostatin in fetal vascular remodeling of the eyeElia 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...
- Mutations in collagen 18A1 and their relevance to the human phenotypeMaria 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...
- Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degenerationN 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...
- Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel familiesSusana 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...
- Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatinOlivier 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...
- A phenotypic variant of Knobloch syndromeTheresa 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...
- Hereditary X-linked juvenile retinoschisis: a review of the role of Müller cellsCornelia M Mooy
Pathology Laboratory Dordrecht, Jkvr Van den Santheuvelweg 2A, 3317NL Dordrecht, The Netherlands
Arch Ophthalmol 120:979-84. 2002
- Pellucid marginal degeneration coexistent with cornea plana in one member of a family exhibiting a novel KERA mutationA O Khan
Br J Ophthalmol 89:1538-40. 2005
- Hereditary hyperferritinemia cataract syndrome: ocular, genetic, and biochemical findingsA 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)...
- [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....
- Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivityH 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...
- High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1Allan 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...
- Type 1 Stickler syndrome: a histological and ultrastructural study of an untreated globeM 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...
- A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degenerationSanjoy 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...
- Severe fascioscapulohumeral muscular dystrophy presenting with Coats' disease and mental retardationLaurence 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...
- Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome familyLarry 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...
- Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestationsEdward 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...
- Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degenerationDror 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...
- Genomewide homozygosity mapping and molecular analysis of a candidate gene located on 22q13 (fibulin-1) in a previously undescribed vitreoretinal dystrophyMaike 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])...
- Clinical description and exclusion of candidate genes in a novel autosomal recessively inherited vitreoretinal dystrophyGian 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...
- Goldmann-Favre vitreoretinal degenerationF 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...
- Retrospective study of prophylactic random transscleral retinopexy in the Bichon Frise with cataractGretchen 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...
- Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 geneLarry 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....
- Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathyShigeo 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...
- Genetic linkage of snowflake vitreoretinal degeneration to chromosome 2q36Xiaodong Jiao
Ophthalmic Genetics and Clinical Services Branch, National Eye Institute, Bethesda, Maryland, USA
Invest Ophthalmol Vis Sci 45:4498-503. 2004....
- Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigreeC 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...
- Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease proteinR 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...
- Vitreous phenotype: a key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosityAlan Ang
Vitreoretinal Service, Addenbrooke s Hospital, Cambridge, United Kingdom
Am J Med Genet A 143:604-7. 2007....
- 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...
- Linkage analysis and comparative mapping of canine progressive rod-cone degeneration (prcd) establishes potential locus homology with retinitis pigmentosa (RP17) in humansG 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....
- Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese familyMakoto 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)...
- Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisisB 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...
- Clinical manifestation of a novel PAX6 mutation Arg128ProCecilie Bredrup
Department of Ophthalmology, Haukeland University Hospital, N 5021 Bergen, Norway
Arch Ophthalmol 126:428-30. 2008
- 11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatusF 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...
- Japanese juvenile retinoschisis is caused by mutations of the XLRS1 geneY 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...
- Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instabilityS Freddi
Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Parkville, Victoria, Australia
Am J Med Genet 90:398-406. 2000....
- Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagenSarah 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...
- Phenotypic heterogeneity in a family with FAP due to a TTR Leu58Arg mutation: a clinicopathologic studyYuko 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...
- Exudative retinopathy in a girl with Alström syndrome due to a novel mutationDevina Gogi
Br J Ophthalmol 91:983-4. 2007
- A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian familyE 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...
- 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...
- Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatusC 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...
- The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46Lars 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...
- Retinal degeneration in nine Swedish Jämthund dogsEva 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...
- Causes of childhood blindness in Malaysia: results from a national study of blind school studentsS 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.
- Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8Lars 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)...
- 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...
- Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndromeDavid 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...
- The lidgap-Gates (lgGa) mutation for open eyelids at birth maps to mouse chromosome 13D 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...
- Oligocone trichromacy: clinical and molecular genetic investigationsMette 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)...
- Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndromeAnnemarie 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...
- The spatial order of horizontal cells is not affected by massive alterations in the organization of other retinal cellsChiara 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...
- 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...
- Prenatal diagnosis of muscle-eye-brain diseaseBurcu 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...
- Hereditary hyperferritinemia-cataract syndrome: prevalence, lens morphology, spectrum of mutations, and clinical presentationsJamie 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...
- [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...
- [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...
- Hereditary hyperferritinemia-cataract syndromeGregory 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...
- Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluationsWenyu 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...
- Outcomes of surgery for retinal detachment in patients with Stickler syndrome: a comparison of two sequential 20-year cohortsPoorna 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...
- Governmental, university, pharmaceutical, and foundation partnerships to advance translational research in retinal diseaseStephen 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
- The electroretinogram components in Abyssinian cats with hereditary retinal degenerationJennifer 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...
- An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndromeS H Chavala
Br J Ophthalmol 89:1065-6. 2005
- Genetics of hereditary vitreoretinal degenerationsSophia 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...
- [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...
- Developments in molecular genetics and electrophysiology in inherited retinal disordersSten 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...
- [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...
- Early transposable element insertion in intron 9 of the Hsf4 gene results in autosomal recessive cataracts in lop11 and ldis1 miceElijah 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...
- Snowflake vitreoretinal degeneration: follow-up of the original familyMike 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...
- Transport of trace elements in lenses of normal and hereditary cataract UPL ratsTomohiro 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...
- Stickler syndrome: clinical care and molecular geneticsDavid W Parke
Am J Ophthalmol 134:746-8. 2002
- Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathyB 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...
- Genetically distinct autosomal dominant posterior polar cataract in a four-generation Japanese familyK Yamada
Department of Human Genetics, Nagasaki University School of Medicine, Japan
Am J Ophthalmol 129:159-65. 2000....
- Prenatal diagnosis of Pierre-Robin sequence as part of Stickler syndromeMarie 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...
- An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12K 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...
- Phacoemulsification in spherophakia with corneal touchAnders 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...
- Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatusH 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...
- [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...
- Loss of anterior chamber-associated immune deviation (ACAID) in aged retinal degeneration (rd) miceU 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...
- Inheritance of strabismus and the gain of using heredity to determine populations at risk of developing strabismusM 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...
- X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease proteinK 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...
- Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucomaMirella Bruttini
Division of Medical Genetics, Department of Molecular Biology, University of Siena, Siena, Italy
Arch Ophthalmol 121:1034-8. 2003....
- Canine models of ocular disease: outcross breedings define a dominant disorder present in the English mastiff and bull mastiff dog breedsJ 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...
- [Genetics of iron overloads and hereditary hyperferritinemia cataract syndrome]J A García-Erce
An Med Interna 20:213-4. 2003
- A new syndrome of hereditary congenital corneal opacities, cornea guttata, and corectopiaJeong Min Hwang
Genetic Eye Disease, Cole Eye Institute, Cleveland Clinic Foundation, OH 44195, USA
Arch Ophthalmol 121:1053-4. 2003
- Heredity versus abnormalities in pregnancy and delivery as risk factors for different types of comitant strabismusT Matsuo
Department of Ophthalmology, Okayama University Medical School, Japan
J Pediatr Ophthalmol Strabismus 38:78-82. 2001....
- Penetrating keratoplasty in infancy and early childhoodJ 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...
- [Gene therapy of eye diseases]Taiji Sakamoto
Fukuoka Igaku Zasshi 93:204-7. 2002
- Prevalence of mitral valve prolapse in Stickler syndromeNadeem 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...
- Microstrabismus in monozygotic twinsH 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...
- NEMO mutational analysis in a Japanese family with incontinentia pigmentiH Tada
Eye (Lond) 21:888-90. 2007
- Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25D B Gould
Am J Hum Genet 61:765-8. 1997
- Vitamin A and fish oils for retinitis pigmentosaSobharani 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. 2013Retinitis 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...
- Genetic eye research in Tasmania: a historical overviewDavid 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. 2012Although 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...
- Mutational analysis and clinical correlation in Leber congenital amaurosisS R Dharmaraj
Wilmer Eye Institute, The Johns Hopkins Center for Hereditary Eye Diseases, Baltimore, Maryland, USA
Ophthalmic Genet 21:135-50. 2000....
- Congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with progressive cerebellar ataxiaKunihiro 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...
- Novel human pathological mutations. Gene symbol: FZD4. Disease: familial exudative vitreoretinopathyVeronique Vieira
Faculte de Medecine, Necker Enfants Malades, Paris, France
Hum Genet 121:650. 2007
- Nanoparticle applications in ocular gene therapyXue 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...
- Molecular genetics for the pediatric ophthalmologistKathryn 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...
- Retinal oxygenation and oxygen metabolism in Abyssinian cats with a hereditary retinal degenerationLissa 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...
- A new betaA1-crystallin splice junction mutation in autosomal dominant cataractJ 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....
- TRANSCRIPTIONAL CONTROL OF DEVELOPING CILIARY EPITHELIUMElena 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.
- TRANSDUCTION MECHANISMS OF PHOTORECEPTORSFulton 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 ..
- MOLECULAR GENETICS TRAINING IN HUMAN GENETICS AND GENE SDwight 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 ..
- Vestibulocerebellar function in channelopathy mutantsJohn 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. ..
- Cellular Proliferation and Differentiation in the RetinaJeffrey 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 ..
- Biophsyics of Receptor/G-protein InteractionsOLEG KISSELEV; Fiscal Year: 2007..abstract_text> ..
- Conference--The Biology and Chemistry of VisionWolfgang 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. ..