The light-sensitive outer segment organelle of the vertebrate photoreceptor cell is a modified
cilium filled with hundreds of flattened 'disc'membranes that provide vast light-absorbing …

Central areolar choroidal dystrophy is an inherited disorder characterized by progressive
choriocapillaris atrophy and retinal degeneration and is usually associated with mutations in …

Mutations in the photoreceptor-specific tetraspanin gene peripherin-2 (PRPH2) lead to
widely varying forms of retinal degeneration ranging from retinitis pigmentosa to macular …

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 …

Mutations in the PRPH2 gene encoding the photoreceptor-specific protein PRPH2 (also
known as peripherin-2 or rds) cause a broad range of autosomal dominant retinal diseases …

Purpose To evaluate the outer retinal bands using OCT in ABCA4-and PRPH2-associated
retinopathy and develop a novel imaging biomarker to differentiate between these 2 …

We present a long-term follow-up in autosomal dominant gyrate atrophy-like choroidal
dystrophy (adGALCD) and propose a possible genotype/phenotype correlation. Ophthalmic …

Human stem cell-derived organoids enable both disease modeling and serve as a source of
cells for transplantation. Human retinal organoids are particularly important as a source of …

Purpose To establish disease progression rates in total lesion size (TLS), decreased
autofluorescence (DAF) area, total macular volume (TMV), and mean macular sensitivity …

The light-sensitive outer segment organelle of photoreceptor cells contains a stack of
hundreds of flat, disc-shaped membranes called discs. The rims of these discs contain a …