Disease: Late onset dominant cone dystrophy
- A clinical and electrophysiological case study of a child with a novel frame shift mutation in the CACNA1F and missense variation of RIMS1 genes
- A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration
- A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene
- An unusual retinal phenotype associated with a novel mutation in RHO
- Autosomal Recessive Rod-Cone Dystrophy Associated With Compound Heterozygous Variants in <em>ARL3</em> Gene
- Autosomal Recessive Rod-Cone Dystrophy Associated With Compound Heterozygous Variants in ARL3 Gene
- Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association
- Clinical and genetic heterogeneity in retinitis pigmentosa
- Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration
- Expanded Phenotypic Spectrum of Retinopathies Associated with Autosomal Recessive and Dominant Mutations in PROM1
- Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene
- Four different gene-related cone-rod dystrophy: clinical and genetic findings in six Chinese families with diverse modes of inheritance
- Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy
- Incomplete penetrance of <em>CRX</em> gene for autosomal dominant form of cone-rod dystrophy
- Incomplete penetrance of CRX gene for autosomal dominant form of cone-rod dystrophy
- Late onset dominant cone dystrophy with early blue cone involvement
- Late-onset cone photoreceptor degeneration induced by R172W mutation in Rds and partial rescue by gene supplementation
- Mechanistically distinct mouse models for CRX-associated retinopathy
- Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss
- New COL6A6 Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family
- Phenotype-genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion-insertion variant causing a splicing defect
- Phenotypic findings in C1QTNF5 retinopathy (late-onset retinal degeneration)
- Pseudoinflammatory macular dystrophy
- Retinitis pigmentosa and color vision deficiency in Kamigoto island, Nagasaki Prefecture
- RNA interference gene therapy in dominant retinitis pigmentosa and cone-rod dystrophy mouse models caused by GCAP1 mutations
- RNAi-mediated gene suppression in a GCAP1(L151F) cone-rod dystrophy mouse model
- RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily
- Short wavelength-automated perimetry compared with standard achromatic perimetry in autosomal dominant optic atrophy
- Targeted inactivation of synaptic HRG4 (UNC119) causes dysfunction in the distal photoreceptor and slow retinal degeneration, revealing a new function
- The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene
- Visual phenotype in patients with Arg41Gln and ala196+1bp mutations in the CRX gene