Associated Papers
Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.
Zhang L et al.
Investigative Ophthalmology & Visual Science, 2025
41117592 (PubMed )
Supplement: iovs-66-13-32_s002.xlsx › Sheet1
Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort.
Testa F et al.
Investigative Ophthalmology & Visual Science, 2025
40900079 (PubMed )
Supplement: iovs-66-12-5_s001.pdf
Expanding Genetic and Clinical Spectra of Inherited Retinal Dystrophies: Identification of Three Novel PRPH2 Variants.
Cascella R et al.
Biomedicines, 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
New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review.
Wang Y et al.
International Journal of Molecular Sciences, 2023
37047703 (PubMed )
Supplement: ijms-24-06728-s001.zip › WangYW-PRPH2-sup_Table_S2_sub.xlsx › Sheet2
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
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L et al.
Investigative Ophthalmology & Visual Science, 2021
33576794 (PubMed )
Supplement: iovs-62-2-13_s001.xlsx › Table_S3_AD
Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa.
Karali M et al.
International Journal of Molecular Sciences, 2019
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
Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene.
Felbor U et al.
Human Mutation, 1997
Preferential rod and cone photoreceptor abnormalities in heterozygotes with point mutations in the RDS gene.
Jacobson SG et al.
Experimental Eye Research, 1996
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