Associated Papers
RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals.
Van Vooren E et al.
Investigative Ophthalmology & Visual Science, 2025
RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals.
Vooren EV et al.
Research Square, 2025
Genetic Characterization of 191 Probands with Inherited Retinal Dystrophy by Targeted NGS Analysis.
Mihalich A et al.
Genes, 2024
38927702 (PubMed )
Supplement: genes-15-00766-s001.zip › Tab._S3.xlsx › Foglio1
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S2
Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy.
Testa F et al.
Scientific Reports, 2022
RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study.
Testa F et al.
Investigative Ophthalmology & Visual Science, 2022
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