Associated Papers
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
Genetic and bioinformatic analysis of RHO and PRPH2 variants in north Indian retinitis pigmentosa patients.
Bhardwaj A et al.
Japanese Journal of Ophthalmology, 2025
Genotype-Phenotype Correlations in PRPH2 Retinopathies: A Comprehensive Analysis of 36 Patients from the Oxford Eye Hospital, UK.
Al-Khuzaei S et al.
Genes, 2025
Real-World Engagement with Free Genotyping by Patients with Inherited Retinal Disease in a Single Private Retinal Centre in Australia.
Fry LE et al.
Seminars in Ophthalmology, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
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
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
Whole-exome sequencing reveals a retinitis pigmentosa-causative PRPH2 variant as a secondary finding in a patient with pseudoxanthoma elasticum.
Miyazaki A et al.
The Journal of Dermatology, 2023
Compound dominant-null heterozygosity in a family with RP1-related retinal dystrophy.
Buckley TMW et al.
American Journal of Ophthalmology Case Reports, 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
Clinical and molecular findings in patients with pattern dystrophy.
Sodi A et al.
Ophthalmic Genetics, 2021
Recessive pediatric-onset cone-rod dysfunction or dominant maculopathy in a consanguineous family harboring the peripherin mutation p.Arg220Gln.
Khan AO
Ophthalmic Genetics, 2019
In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors.
Becirovic E et al.
Plos Genetics, 2016
Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa.
Leroy BP et al.
The British Journal of Ophthalmology, 2007
In vivo assessment of photoreceptor function in human diseases caused by photoreceptor-specific gene mutations.
Cideciyan AV
Methods in Enzymology, 2000
The role of the peripherin/RDS gene in retinal dystrophies.
Kohl S et al.
Acta Anatomica, 1998
Preferential rod and cone photoreceptor abnormalities in heterozygotes with point mutations in the RDS gene.
Jacobson SG et al.
Experimental Eye Research, 1996
Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration.
Keen TJ et al.
Human Mutation, 1996