Associated Papers
Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.
Lieviant JA et al.
European Journal of Human Genetics : Ejhg, 2025
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
Bilateral Sector Macular Dystrophy Associated with PRPH2 Variant c.623G>A (p.Gly208Asp).
Kellner S et al.
Journal of Clinical Medicine, 2025
Quantification of Optical Coherence Tomography Features in >3500 Patients with Inherited Retinal Disease Reveals Novel Genotype-Phenotype Associations.
Woof W et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease.
De Geer K et al.
Acta Ophthalmologica, 2025
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
Expanding the Mutation Spectrum for Inherited Retinal Diseases.
Lynn J et al.
Genes, 2024
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.
Abu Elasal M et al.
Genes, 2024
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
Lin S et al.
Ophthalmology. Retina, 2024
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.
Heath Jeffery RC et al.
Investigative Ophthalmology & Visual Science, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
Analysis of the Outer Retinal Bands in ABCA4 and PRPH2-Associated Retinopathy using OCT.
Heath Jeffery RC et al.
Ophthalmology. Retina, 2024
MULTIMODAL RETINAL IMAGING REVEALS NEW PATHOGENIC INSIGHTS IN CENTRAL AREOLAR CHOROIDAL DYSTROPHY: A CASE SERIES.
Romano F et al.
Retinal Cases & Brief Reports, 2024
Longitudinal Analysis of Functional and Structural Outcome Measures in PRPH2-Associated Retinal Dystrophy.
Heath Jeffery RC et al.
Ophthalmology. Retina, 2023
Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.
Falsini B et al.
Scientific Reports, 2022
New Insights on the Regulatory Gene Network Disturbed in Central Areolar Choroidal Dystrophy-Beyond Classical Gene Candidates.
Kazmierczak de Camargo JP et al.
Frontiers in Genetics, 2022
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.
Peeters MHCA et al.
Human Mutation, 2021
Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan.
Oishi A et al.
Genes, 2021
Stargardt misdiagnosis: How ocular genetics helps.
Ibanez MB et al.
American Journal of Medical Genetics. Part A, 2021
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy.
Gill JS et al.
The British Journal of Ophthalmology, 2019
High-Resolution Adaptive Optics Retinal Image Analysis at Early Stage Central Areolar Choroidal Dystrophy With PRPH2 Mutation.
Gocho K et al.
Ophthalmic Surgery, Lasers & Imaging Retina, 2016
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
Alapati A et al.
Investigative Ophthalmology & Visual Science, 2014
Central areolar choroidal dystrophy (CACD) and age-related macular degeneration (AMD): differentiating characteristics in multimodal imaging.
Smailhodzic D et al.
Investigative Ophthalmology & Visual Science, 2011
Macular dystrophy associated with the Arg172Trp substitution in peripherin/RDS: genotype-phenotype correlation.
Anand S et al.
Retina (philadelphia, Pa.), 2009
Late-onset cone photoreceptor degeneration induced by R172W mutation in Rds and partial rescue by gene supplementation.
Conley S et al.
Investigative Ophthalmology & Visual Science, 2007
Transgenic animal studies of human retinal disease caused by mutations in peripherin/rds.
Ding XQ et al.
Advances in Experimental Medicine and Biology, 2006
Atypical presentation of pattern dystrophy in two families with peripherin/RDS mutations.
Grover S et al.
Ophthalmology, 2002
Detection of alterations in all three exons of the peripherin/RDS gene in Swedish patients with retinitis pigmentosa using an efficient DGGE system.
Ekström U et al.
Molecular Pathology : Mp, 1998
A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration.
Ekström U et al.
Ophthalmic Genetics, 1998
The role of the peripherin/RDS gene in retinal dystrophies.
Kohl S et al.
Acta Anatomica, 1998
A correlation between computer-predicted changes in secondary structure and the phenotype of retinal degeneration associated with mutations in peripherin/RDS.
Nakazawa M et al.
Current Eye Research, 1997
Signal transduction in the retina and inherited retinopathies.
Shastry BS
Cellular and Molecular Life Sciences : Cmls, 1997
Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene.
Felbor U et al.
Human Mutation, 1997
Molecular genetics of central retinal dystrophies.
Moore AT et al.
Australian and New Zealand Journal of Ophthalmology, 1996
Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration.
Keen TJ et al.
Human Mutation, 1996