Adult-onset foveomacular vitelliform dystrophy (AFVD) was first described by Gass four
decades ago. AFVD is characterized by subretinal vitelliform macular lesions and is usually …

Over 175 pathogenic mutations in the Peripherin-2 (PRPH2) gene are linked to various
retinal diseases. We report the phenotype and genotype of eight families (24 patients) with …

In our previous study, potential pathological mutations of RetNet genes were detected in
23.8%(71/298) of probands with early-onset high myopia (eoHM), based on whole exome …

Mutations in PRPH2, encoding peripherin‐2, are associated with the development of a wide
variety of inherited retinal diseases (IRDs). To determine the causality of the many PRPH2 …

PRPH2, one of the most frequently inherited retinal dystrophy (IRD)-causing genes, implies
a high phenotypic variability. This study aims to analyze the PRPH2 mutational spectrum in …

Central areolar choroidal dystrophy (CACD) is a rare hereditary disease that mainly affects
the macula, resulting in progressive and usually profound visual loss. Being part of …

Background The commonest genetic form of juvenile or early adult onset macular
degeneration is Stargardt Disease (STGD) caused by recessive mutations in the gene …

Stargardt disease (STGD) is the leading cause of juvenile macular degeneration associated
with progressive central vision loss, photophobia, and colour vision abnormalities. In this …

We report the molecular basis of the largest Tunisian cohort with inherited retinal
dystrophies (IRD) reported to date, identify disease-causing pathogenic variants and …

BACKGROUND AND OBJECTIVE: To report the clinical features of Japanese patients at
Stage 1 and 2 of central areolar choroidal dystrophy (CACD). PATIENTS AND METHODS …