Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2)Mutational analysis of the OA1 gene in ocular albinismBest's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 geneEFEMP1 is not associated with sporadic early onset drusenA novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosisA novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelidVisual improvement in Leber congenital amaurosis and the CRX genotypeClinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genesNeuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a geneUpdate on the molecular genetics of retinitis pigmentosaCRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservationInfantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture)Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLCLumpers or splitters? The role of molecular diagnosis in Leber congenital amaurosisNew recognized ophthalmic morphologic anomalies in CHARGE syndrome caused by the R2319C mutation in the CHD7 genePosterior polar cataract: genetic analysis of a large familyA case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutationAutosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R)A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophyRichner-Hanhart syndrome (tyrosinemia type II). Case report and literature reviewA novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomalyNovel susceptibility genes associated with diabetic cataract in a Taiwanese populationAnalysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma PatientsRhodopsin: the functional significance of asn-linked glycosylation and other post-translational modificationsClinical and genetic studies of an autosomal dominant cone-rod dystrophy with features of Stargardt disease.Electrophysiology and ocular blood flow in a family with dominant optic nerve atrophy and a mutation in the OPA1 gene.Unilateral ocular duplication.Comparative data on SD-OCT for the retinal nerve fiber layer and retinal macular thickness in a large cohort with Marfan syndrome.The clinical evaluation of infantile nystagmus: What to do first and why.IRPA scientific newsletter--a new website to integrate data on hereditary retinal disorders.Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene.Clinical relevance of optineurin sequence alterations in Japanese glaucoma patients.Coats-type retinal telangiectasia in case of Kabuki make-up syndrome (Niikawa-Kuroki syndrome).Glucocorticoid receptor polymorphisms and intraocular pressure response to intravitreal triamcinolone acetonide.Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees.The effect of therapy refusal against medical advice in retinoblastoma patients in a setting where treatment delays are common.Autofluorescence and infrared retinal imaging in patients and obligate carriers with neuronal ceroid lipofuscinosis.RPE65: role in the visual cycle, human retinal disease, and gene therapy.Microperimetry and OCT findings in female carriers of choroideremia.A novel nonsense mutation in rhodopsin gene in two Indonesian families with autosomal recessive retinitis pigmentosa.
P1433
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Ophthalmic Genetics
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