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.

Top Publications

  1. Menzel O, Bekkeheien R, Reymond A, Fukai N, Boye E, Kosztolanyi G, et al. Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. Hum Mutat. 2004;23:77-84 pubmed
    ..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...
  2. Shroyer N, Lewis R, Yatsenko A, Wensel T, Lupski J. Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration. Hum Mol Genet. 2001;10:2671-8 pubmed
    ..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...
  3. Kliemann S, Waetge R, Suzuki O, Passos Bueno M, Rosemberg S. Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families. Am J Med Genet A. 2003;119A:15-9 pubmed
    ..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...
  4. Duh E, Yao Y, Dagli M, Goldberg M. Persistence of fetal vasculature in a patient with Knobloch syndrome: potential role for endostatin in fetal vascular remodeling of the eye. Ophthalmology. 2004;111:1885-8 pubmed
    ..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...
  5. Passos Bueno M, Suzuki O, Armelin Correa L, Sertie A, Errera F, Bagatini K, et al. Mutations in collagen 18A1 and their relevance to the human phenotype. An Acad Bras Cienc. 2006;78:123-31 pubmed
    ..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...
  6. Williams T, Kirkby G, Williams D, Ainsworth J. A phenotypic variant of Knobloch syndrome. Ophthalmic Genet. 2008;29:85-6 pubmed publisher
    ..This case illustrates a new phenotypic variant of this syndrome...
  7. Kim J, Hwang J. Absence of the trochlear nerve in patients with superior oblique hypoplasia. Ophthalmology. 2010;117:2208-13.e1-2 pubmed publisher
    ..The author(s) have no proprietary or commercial interest in any materials discussed in this article. ..
  8. Johnson K, Mintz Hittner H, Conley Y, Ferrell R. X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein. Clin Genet. 1996;50:113-5 pubmed
    ..This contrasts with the diversity of mutations seen in the more severe, allelic Norrie disease. ..
  9. Favor J, Neuhauser Klaus A. Saturation mutagenesis for dominant eye morphological defects in the mouse Mus musculus. Mamm Genome. 2000;11:520-5 pubmed

More Information

Publications110 found, 100 shown here

  1. Macdonald I, Brooks B, Sieving P. Eyeing a new network. Science. 2007;318:1068 pubmed
  2. Plomp A, Bergen A, Hulsman C, de Jong P. [Changing perception of hereditary eye diseases]. Ned Tijdschr Geneeskd. 2002;146:345-50 pubmed
    ..Particularly if there is genetic heterogeneity or multifactorial inheritance, possibilities for counselling and DNA analysis remain limited. ..
  3. Hakim H, Elloumi M, Ben Salem M, Karray S, Baklouti S. [Polyarthritic manifestations revealing Stickler syndrome]. J Radiol. 2002;83:1856-8 pubmed
    ..The diagnosis of Stickler's syndrome is based on polyepiphyseal dysplasia in skeletal radiography and bilateral myopia. Otherwise, this patient has no facial dysmorphism. ..
  4. Bindoff L, Mjellem N, Sommerfelt K, Krossnes B, Roberts F, Krohn J, et al. Severe fascioscapulohumeral muscular dystrophy presenting with Coats' disease and mental retardation. Neuromuscul Disord. 2006;16:559-63 pubmed
    ..Cryotherapy was successful in maintaining sight in the other affected eyes. ..
  5. Wada Y, Abe T, Fuse N, Tamai M. A frequent 1085delC/insGAAG mutation in the RDH5 gene in Japanese patients with fundus albipunctatus. Invest Ophthalmol Vis Sci. 2000;41:1894-7 pubmed
    ..A homozygous1085delC/insGAAG mutation in the RDH5 gene produces fundus albipunctatus in Japanese patients. These findings suggest that this mutation was a founder effect in Japanese patients with fundus albipunctatus. ..
  6. Soulier M, Sigaudy S, Chau C, Philip N. Prenatal diagnosis of Pierre-Robin sequence as part of Stickler syndrome. Prenat Diagn. 2002;22:567-8 pubmed
    ..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...
  7. Wabbels B, Demmler A, Paunescu K, Wegscheider E, Preising M, Lorenz B. Fundus autofluorescence in children and teenagers with hereditary retinal diseases. Graefes Arch Clin Exp Ophthalmol. 2006;244:36-45 pubmed
    ..AF images can be used in children to differentiate hereditary retinal diseases and to facilitate follow-up controls. In many cases, four single images are sufficient to analyse the AF pattern. ..
  8. Moog U, Bleeker Wagemakers E, Crobach P, Vles J, Schrander Stumpel C. Sibs with Axenfeld-Rieger anomaly, hydrocephalus, and leptomeningeal calcifications: a new autosomal recessive syndrome?. Am J Med Genet. 1998;78:263-6 pubmed
    ..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. ..
  9. Rott H. Extracutaneous analogies of Blaschko lines. Am J Med Genet. 1999;85:338-41 pubmed
    ..The same patterns can also be seen in case of early embryonic somatic mutations. ..
  10. Brooks D, Manova Todorova K, Farmer J, Lobmayr L, Wilson R, Eagle R, et al. Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndrome. Invest Ophthalmol Vis Sci. 2002;43:1121-6 pubmed
    ..Patients with HHCS may be recognized by a family history of cataracts and hyperferritinemia without increased serum iron. ..
  11. Milenkovic S, Kosanovic Jakovic N, Djuric S, Risimic D, Ivancevic Milenkovic M. Helicoidal peripapillary degeneration. Eye (Lond). 2005;19:917-20 pubmed
  12. Ahmad N, Richards A, Murfett H, Shapiro L, Scott J, Yates J, et al. Prevalence of mitral valve prolapse in Stickler syndrome. Am J Med Genet A. 2003;116A:234-7 pubmed
    ..Routine echocardiography screening and use of preoperative antibiotics are unnecessary and should be reserved for those individual cases where there is clear clinical indication. ..
  13. Mellersh C, Pettitt L, Forman O, Vaudin M, Barnett K. Identification of mutations in HSF4 in dogs of three different breeds with hereditary cataracts. Vet Ophthalmol. 2006;9:369-78 pubmed
  14. Graff C, Eriksson A, Forsman K, Sandgren O, Holmgren G, Wadelius C. Refined genetic localization of the Best disease gene in 11q13 and physical mapping of linked markers on radiation hybrids. Hum Genet. 1997;101:263-70 pubmed
    ..The data suggest that the VMD-2 region flanked by the microsatellite markers D11S4076 and UGB is approximately 980 kb. ..
  15. Cormand B, Pihko H, Bayes M, Valanne L, Santavuori P, Talim B, et al. Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology. 2001;56:1059-69 pubmed
    ..Lack of consistent ocular abnormalities in FCMD has allowed a clear clinical demarcation of this syndrome, whereas the phenotypic distinction between MEB and WWS has remained controversial. The MEB gene is located on chromosome 1p32-p34...
  16. Young T. Ophthalmic genetics/inherited eye disease. Curr Opin Ophthalmol. 2003;14:296-303 pubmed
  17. Griepentrog G, Lucarelli M. Heritable unilateral clinical anophthalmia. Ophthalmic Plast Reconstr Surg. 2004;20:166-8 pubmed
    ..Treatment of this patient's anophthalmic socket consists of progressive conformer expansion to be followed by placement of a self-inflating polymer expander. ..
  18. Moody J, Famula T, Sampson R, Murphy K. Identification of microsatellite markers linked to progressive retinal atrophy in American Eskimo Dogs. Am J Vet Res. 2005;66:1900-2 pubmed
    ..These data indicate that PRA in American Eskimo Dogs is located on CFA09 and allow for the development of a microsatellite-based test to identify carrier (unaffected) and affected dogs before clinical signs appear. ..
  19. Riveiro Alvarez R, Trujillo M, Gimenez A, Cantalapiedra D, Vallespin E, Villaverde C, et al. Gene symbol: NDP. Disease: Norrie disease. Hum Genet. 2006;119:675 pubmed
  20. Driessen C, Janssen B, Winkens H, Kuhlmann L, van Vugt A, Pinckers A, et al. Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus. Ophthalmology. 2001;108:1479-84 pubmed
  21. Donoso L, Edwards A, Frost A, Ritter R, Ahmad N, Vrabec T, et al. Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene. Surv Ophthalmol. 2003;48:191-203 pubmed
  22. Stangou A, Hawkins P. Liver transplantation in transthyretin-related familial amyloid polyneuropathy. Curr Opin Neurol. 2004;17:615-20 pubmed
  23. Ismail A, Lachlan K, Mumford A, Temple I, Hodgkins P. Hereditary hyperferritinemia cataract syndrome: ocular, genetic, and biochemical findings. Eur J Ophthalmol. 2006;16:153-60 pubmed
    ..To describe the cataract morphology and genetic and biochemical findings in a four-generation family with hereditary hyperferritinemia cataract syndrome (HHCS)...
  24. Dollfus H, Porto F, Caussade P, Speeg Schatz C, Sahel J, Grosshans E, et al. Ocular manifestations in the inherited DNA repair disorders. Surv Ophthalmol. 2003;48:107-22 pubmed
  25. Theelen T, Go S, Tilanus M, Klevering B, Deutman A, Cremers F, et al. Autosomal dominant rhegmatogenous retinal detachment--clinical appearance and surgical outcome. Graefes Arch Clin Exp Ophthalmol. 2004;242:892-7 pubmed
    ..In these subjects measures to prevent RRD are an option, even when anatomical substrates of precursors of RRD are absent. ..
  26. Fan B, Tam P, Choy K, Wang D, Lam D, Pang C. Molecular diagnostics of genetic eye diseases. Clin Biochem. 2006;39:231-9 pubmed
    ..Establishment of ethnic-specific disease databases that contain both clinical and genetic information for identification of genetic markers with diagnostic, prognostic, or pharmacological value is strongly advocated. ..
  27. Francis P. Genetics of inherited retinal disease. J R Soc Med. 2006;99:189-91 pubmed
  28. Yoshida K, Okano T, Hoshi K, Yahikozawa H, Suzuki K, Banno H, et al. Congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with progressive cerebellar ataxia. Am J Med Genet A. 2007;143A:1494-501 pubmed
    ..We consider that this family may broaden the spectrum of the clinical features of CFEOM or the related disorders presenting with the CFEOM phenotype. ..
  29. Weigell Weber M, Sarra G, Kotzot D, Sandkuijl L, Messmer E, Hergersberg M. Genomewide homozygosity mapping and molecular analysis of a candidate gene located on 22q13 (fibulin-1) in a previously undescribed vitreoretinal dystrophy. Arch Ophthalmol. 2003;121:1184-8 pubmed
    ..A genomewide homozygosity mapping analysis supported the hypothesis that the gene responsible for a unique vitreoretinal dystrophy is located on chromosome 22q13. No obviously pathogenic mutation was found in the candidate gene, FBLN1. ..
  30. Nabekura T, Minami T, Hirunuma R, Enomoto S, Tomohiro M, Ito Y, et al. Transport of trace elements in lenses of normal and hereditary cataract UPL rats. Toxicology. 2003;191:227-32 pubmed
    ..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. ..
  31. Goldstein O, Guyon R, KUKEKOVA A, Kuznetsova T, Pearce Kelling S, Johnson J, et al. COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia. Mamm Genome. 2010;21:398-408 pubmed publisher
  32. Gooden C, Pate V, Kavee R. Anesthetic management of a child with Aicardi syndrome. Paediatr Anaesth. 2005;15:172-3 pubmed
  33. Moosajee M. Genes and the eye. J R Soc Med. 2005;98:206-7 pubmed
  34. Thurtell M, Fraser J, Bala E, Tomsak R, Biousse V, Leigh R, et al. Two patients with spinocerebellar ataxia type 7 presenting with profound binocular visual loss yet minimal ophthalmoscopic findings. J Neuroophthalmol. 2009;29:187-91 pubmed publisher
    ..Full-field or multifocal ERG will always disclose photoreceptor dysfunction. Genetic testing is now available to confirm the diagnosis. ..
  35. Riveiro Alvarez R, Trujillo M, Cantalapiedra D, Vallespin E, Villaverde C, Valverde D, et al. Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hs0512. Hum Genet. 2006;118:784 pubmed
  36. Luhmann U, Meunier D, Shi W, Lüttges A, Pfarrer C, Fundele R, et al. Fetal loss in homozygous mutant Norrie disease mice: a new role of Norrin in reproduction. Genesis. 2005;42:253-62 pubmed
    ..Taken together, these data provide strong evidence for Norrin playing an important role in female reproductive tissues. ..
  37. Horie Y, Namba K, Kitaichi N, Ohno S. Sister cases of Behcet's disease and Vogt-Koyanagi-Harada disease. Br J Ophthalmol. 2008;92:433-4 pubmed publisher
  38. Craig J, Clark J, McLeod J, Kirkland M, Grant G, Elder J, et al. Hereditary hyperferritinemia-cataract syndrome: prevalence, lens morphology, spectrum of mutations, and clinical presentations. Arch Ophthalmol. 2003;121:1753-61 pubmed
    ..Hereditary hyperferritinemia-cataract syndrome can be a cause of cataracts in pediatric patients even in the absence of any positive family history. ..
  39. Burdon K, Wirth M, Mackey D, Russell Eggitt I, Craig J, Elder J, et al. Investigation of crystallin genes in familial cataract, and report of two disease associated mutations. Br J Ophthalmol. 2004;88:79-83 pubmed
  40. Weleber R. A network of patients with orphan retinal diseases for clinical trials: goals, structure, challenges. Retina. 2005;25:S66-S67 pubmed
  41. Querques G, Regenbogen M, Soubrane G, Souied E. High-resolution spectral domain optical coherence tomography findings in multifocal vitelliform macular dystrophy. Surv Ophthalmol. 2009;54:311-6 pubmed publisher
    ..These new findings would help in a further understanding of multifocal vitelliform macular dystrophy. ..
  42. Mitamura Y, Miyanishi K, Shizukawa N, Tashimo A, Nakamura Y, Tagawa H, et al. A case of X-linked retinoschisis diagnosed in an infant. Retina. 2003;23:731-2 pubmed
  43. Mavlyutov T, Zhao H, Ferreira P. Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species. Hum Mol Genet. 2002;11:1899-907 pubmed
  44. Moosajee M, Gregory Evans K, Ellis C, Seabra M, Gregory Evans C. Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease. Hum Mol Genet. 2008;17:3987-4000 pubmed publisher
    ..These findings draw attention to the value of zebrafish models of eye disease as useful preclinical drug screening tools in studies to identify molecular mechanisms amenable to therapeutic intervention. ..
  45. Grozdanic S, Kecova H, Harper M, Nilaweera W, Kuehn M, Kardon R. Functional and structural changes in a canine model of hereditary primary angle-closure glaucoma. Invest Ophthalmol Vis Sci. 2010;51:255-63 pubmed publisher
    ..Canine hereditary angle-closure glaucoma is characterized by a progressive increase in intraocular pressure, loss of optic nerve function, and retinal ganglion cell loss. ..
  46. Yamamoto H, Simon A, Eriksson U, Harris E, Berson E, Dryja T. Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. Nat Genet. 1999;22:188-91 pubmed
    ..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...
  47. Nakamura M, Miyake Y. Macular dystrophy in a 9-year-old boy with fundus albipunctatus. Am J Ophthalmol. 2002;133:278-80 pubmed
    ..To report a 9-year-old boy with fundus albipunctatus and macular dystrophy...
  48. Ray J, Ray K. Gene therapy in medicine. Indian J Ophthalmol. 2002;50:261-3 pubmed
  49. Traboulsi E, Sarfarazi M. The use of microarray technology in deciphering the cause of genetic eye diseases: LOXL1 and exfoliation syndrome. Am J Ophthalmol. 2008;145:391-3 pubmed publisher
  50. Hamel C, Griffoin J, Bazalgette C, Lasquellec L, Duval P, Bareil C, et al. [Molecular genetics of pigmentary retinopathies: identification of mutations in CHM, RDS, RHO, RPE65, USH2A and XLRS1 genes]. J Fr Ophtalmol. 2000;23:985-95 pubmed
    ..To characterize genes and mutations causing these conditions...
  51. Schmidt H, Rudolph G, Hergersberg M, Schneider K, Moradi S, Meitinger T. Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred--a possible new syndrome. Clin Genet. 2001;59:99-105 pubmed
    ..The karyotype was normal in all affected children. This hitherto undescribed combination of oculo-skeletal symptoms shows most resemblance with connective tissue disorders, suggesting a range of candidate genes for mutation analysis...
  52. Lafaut B, Loeys B, Leroy B, Spileers W, de Laey J, Kestelyn P. Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree. Graefes Arch Clin Exp Ophthalmol. 2001;239:575-82 pubmed
    ..To report the clinical and electrophysiological findings in a three-generation pedigree with autosomal dominant vitreoretinochoroidopathy...
  53. Gupta S, Leonard B, Damji K, Bulman D. A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration. Am J Ophthalmol. 2002;133:203-10 pubmed
    ..To describe the genetic basis of an autosomal dominant vitreoretinopathy in a large French-Canadian kindred...
  54. Weleber R. Inherited and orphan retinal diseases: phenotypes, genotypes, and probable treatment groups. Retina. 2005;25:S4-S7 pubmed
  55. Wu W, Drenser K, Trese M, Capone A, Dailey W. Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene. Arch Ophthalmol. 2007;125:225-30 pubmed
    ..To correlate the ophthalmic findings of patients with pediatric vitreoretinopathies with mutations occurring in the Norrie disease gene (NDP)...
  56. Chaudhry I, Shamsi F, Elzaridi E, Arat Y, Riley F. Congenital cystic eye with intracranial anomalies: a clinicopathologic study. Int Ophthalmol. 2007;27:223-33 pubmed
    ..To describe clinical, imaging and histopathologic findings of congenital cystic eyes associated with intracranial malformations...
  57. Gould D, Mears A, Pearce W, Walter M. Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25. Am J Hum Genet. 1997;61:765-8 pubmed
  58. Zhang K, Garibaldi D, Kniazeva M, Albini T, Chiang M, Kerrigan M, et al. A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease. Am J Ophthalmol. 1999;128:720-4 pubmed
    ..To identify additional mutations in the ABCR gene and describe the clinical features of four affected siblings with autosomal recessive Stargardt disease...
  59. Tso M, Goldberg M, Gund G. Preface. Retina. 2005;25:S1-S3 pubmed
  60. Boonstra F, van Nouhuys C, Schuil J, de Wijs I, van der Donk K, Nikopoulos K, et al. Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy. Invest Ophthalmol Vis Sci. 2009;50:4379-85 pubmed publisher
    ..To describe the ophthalmic characteristics and to identify the molecular cause of FEVR in a cohort of Dutch probands and their family members...
  61. Weidemann F, Sommer C, Duning T, Lanzl I, Möhrenschlager M, Naleschinski D, et al. Department-related tasks and organ-targeted therapy in Fabry disease: an interdisciplinary challenge. Am J Med. 2010;123:658.e1-658.e10 pubmed publisher
  62. Juriloff D, Harris M, Mah D, Benson A. The lidgap-Gates (lgGa) mutation for open eyelids at birth maps to mouse chromosome 13. Mamm Genome. 1996;7:403-7 pubmed
    ..Evidence is also presented for a common unlinked recessive suppressor of the open eyelids trait caused by lgGa...
  63. Mills M, Windle J, Albert D. Retinoblastoma in transgenic mice: models of hereditary retinoblastoma. Surv Ophthalmol. 1999;43:508-18 pubmed
    ..Current therapeutic innovations developed by means of the transgenic models are described...
  64. Bok D. Contributions of genetics to our understanding of inherited monogenic retinal diseases and age-related macular degeneration. Arch Ophthalmol. 2007;125:160-4 pubmed
    ..In the end, patients with inherited ocular disease will be the final and highly deserving beneficiaries...
  65. Aguirre G, Komaromy A, Cideciyan A, Brainard D, Aleman T, Roman A, et al. Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation. PLoS Med. 2007;4:e230 pubmed
    ..We therefore studied the cortex of RPE65-mutant dogs before and after retinal gene therapy. Then, we inquired whether there is visual pathway integrity and responsivity in adult humans with LCA due to RPE65 mutations (RPE65-LCA)...
  66. Suzuki O, Kague E, Bagatini K, Tu H, Heljasvaara R, Carvalhaes L, et al. Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome. Mol Vis. 2009;15:801-9 pubmed
    ..In addition, we tested whether mutations in this gene lead to absence of the COL18A1 gene product and attempted to better characterize the functional effect of a previously reported missense mutation...
  67. Berger W. Molecular dissection of Norrie disease. Acta Anat (Basel). 1998;162:95-100 pubmed
    ..Further histological, functional and molecular studies of the mouse model are needed to provide additional information on disease associated pathways...
  68. Engle E. Applications of molecular genetics to the understanding of congenital ocular motility disorders. Ann N Y Acad Sci. 2002;956:55-63 pubmed
    ..Functional studies of the CFEOM genes should provide additional insight into the unique features of the extraocular lower motor neuron axis in health and disease. (For full (refs. 1-9), see reference list of the main paper.)..
  69. Vidaurri de la Cruz H, Tamayo Sánchez L, Duran McKinster C, Orozco Covarrubias M, Ruiz Maldonado R. Phakomatosis pigmentovascularis II A and II B: clinical findings in 24 patients. J Dermatol. 2003;30:381-8 pubmed
    ..No other types of PPV were found. Systemic involvement in PPV was related to the body surface area affected by the vascular macules. Ectodermal and mesodermal migration disorders might be involved in the pathogenesis of PPV...
  70. Turner A. Ocular conditions of neonatal foals. Vet Clin North Am Equine Pract. 2004;20:429-40, vii-viii pubmed
    ..Congenital conditions may be recognized for the first time in older animals during their first thorough eye examination...
  71. Hardie J, Mercieca F, Fenech T, Cuschieri A. Familial pseudoexfoliation in Gozo. Eye (Lond). 2005;19:1280-5 pubmed
    ..To describe the occurrence of pseudoexfoliation in three Gozitan families...
  72. Rim P, Magna L, Ramalho A. Genetics and prevention of blindness. Arq Bras Oftalmol. 2006;69:481-5 pubmed
    ..To verify the perception of Brazilian ophthalmologists regarding the role played by Genetics in their routine medical activity and their conduct when dealing with patients, with hereditary diseases who need genetic counseling...
  73. Riveiro Alvarez R, Trujillo M, Cantalapiedra D, Vallespin E, Villaverde C, Valverde D, et al. Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0536. Hum Genet. 2006;118:777 pubmed
  74. Sun W, Gerth C, Maeda A, Lodowski D, Van Der Kraak L, Saperstein D, et al. Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations. Vision Res. 2007;47:2055-66 pubmed
    ..Thus, impairment of retinal structure and function for patients carrying these mutations correlated with the biochemical properties of the mutants...
  75. Kaminska A, Sokołowska Oracz A, Pawluczyk Dyjecińska M, Szaflik J. [Variability of clinical manifestations in the family with Axenfeld-Rieger syndrome]. Klin Oczna. 2007;109:321-6 pubmed
    ..This study presents various clinical manifestations of Axenfeld-Rieger syndrome within one family...
  76. Gogate P, Kishore H, Dole K, Shetty J, Gilbert C, Ranade S, et al. The pattern of childhood blindness in Karnataka, South India. Ophthalmic Epidemiol. 2009;16:212-7 pubmed publisher
    ..To determine the causes of severe visual impairment and blindness in children in schools for the blind in southern Karnataka state of India...
  77. Richards A, McNinch A, Martin H, Oakhill K, Rai H, Waller S, et al. Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. Hum Mutat. 2010;31:E1461-71 pubmed publisher
    ..We have identified 57 novel mutations including missense changes in both COL2A1 and COL11A1 and have also detected two cases of complete COL2A1 gene deletions using MLPA...
  78. Van de Vosse E, Walpole S, Nicolaou A, van der Bent P, Cahn A, Vaudin M, et al. Characterization of SCML1, a new gene in Xp22, with homology to developmental polycomb genes. Genomics. 1998;49:96-102 pubmed
    ..SCML1 appears to be a new human member of this gene group and may play an important role in the control of embryonal development...
  79. Leppanen M, Martenson J, Maki K. Results of ophthalmologic screening examinations of German Pinschers in Finland--a retrospective study. Vet Ophthalmol. 2001;4:165-9 pubmed
    ..To retrospectively review ophthalmologic findings in German Pinschers in Finland...
  80. Mielke J, Freudenthaler N, Schlote T, Bartz Schmidt K. [Pseudohypopyon of cholesterol crystals occurring 16 years after retinal detachment in x-linked retinoschisis]. Klin Monbl Augenheilkd. 2001;218:741-3 pubmed
    ..Cholesterol crystals of the anterior chamber can be found as a marked feature of advanced cholesterosis bulbi; typically following i. o. hemorrhage after severe trauma, retinal detachment or M. Coats...
  81. Behndig A. Phacoemulsification in spherophakia with corneal touch. J Cataract Refract Surg. 2002;28:189-91 pubmed
    ..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...
  82. Khairallah M, Ladjimi A, Ben Yahia S, Zaouali S, Messaoud R, Boulima K. Elevated macular retinoschisis associated with Goldmann-Favre syndrome successfully treated with grid laser photocoagulation. Retina. 2002;22:234-7 pubmed
  83. Larijani B, Hume A, Tarafder A, Seabra M. Multiple factors contribute to inefficient prenylation of Rab27a in Rab prenylation diseases. J Biol Chem. 2003;278:46798-804 pubmed
    ..We suggest that the restricted phenotypes observed in these diseases result from multiple contributing factors...
  84. Lee M, Ritter R, Hirose T, Vu C, Edwards A. Snowflake vitreoretinal degeneration: follow-up of the original family. Ophthalmology. 2003;110:2418-26 pubmed
    ..The ocular findings, systemic features, and genetic loci distinguishing known genetic causes of vitreoretinal degenerations were studied in the original Snowflake family...
  85. Blair J. Hurdles and opportunities for a venture capitalist investing in therapies for orphan retinal diseases. Retina. 2005;25:S105-S108 pubmed
  86. Bok D. The role of RPE65 in inherited retinal diseases. Retina. 2005;25:S61-S62 pubmed
  87. Ryan S. Governmental, university, pharmaceutical, and foundation partnerships to advance translational research in retinal disease. Retina. 2005;25:S82 pubmed
  88. Bass S, Noble K. Autosomal dominant pericentral retinochoroidal atrophy. Retina. 2006;26:71-9 pubmed
    ..To describe a family pedigree with a newly described hereditary retinal disease...
  89. Khashu M, Osiovich H, Rudman D, Lopez E, Langlois S. The tale of a belly button: Rieger syndrome. Clin Pediatr (Phila). 2006;45:453-5 pubmed
  90. Cai X, Conley S, Naash M. Nanoparticle applications in ocular gene therapy. Vision Res. 2008;48:319-24 pubmed
    ..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...
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