Advances in retinal imaging technology have largely contributed to the understanding of the natural history, prognostic markers and disease mechanisms of geographic atrophy (GA) due to age-related macular degeneration. There is still no therapy available to halt or slow the disease process. In order to evaluate potential therapeutic effects in interventional trials, there is a need for precise ...

In this article, the author updates information on cerebro-oculo-facio-skeletal (COFS) syndrome. The condition is rare, with autosomal recessive inheritance, and manifests abnormal facies, ocular changes (eg, cataracts, retinal degeneration, microcornea, optic atrophy), in utero and postnatal growth retardation, severe psychomotor retardation, cerebral and cerebellar degeneration with calcifica...

Hallervorden-Spatz disease (HSD) was and is known as a rare disorder primarily characterized by progressive extrapyramidal dysfunction and dementia alongside optic nerve atrophy or retinal degeneration and pyramidal signs. The rate of occurence of HSD is thus far unknown. Progress in DNA diagnostics stirred up a nomenclature and from HSD, or, perhaps better put, the Hallervorden-Spatz syndrome,...

CASE REPORT A 65-year-old female, with poor visual acuity in right eye since childhood, was referred to our hospital. Funduscopic examination revealed bone-spicule pigmentation and choroidal and retinal pigment epithelium atrophy along the vascular arcades, with macular involvement in right eye. The patient was diagnosed with pigmented paravenous retinochoroidal atrophy (PPRCA). DISCUSSION PP...

Retinitis pigmentosa (RP) is a group of inherited retinal disorders characterized by progressive loss of photoreceptors and eventually leads to retina degeneration and atrophy. Until now, the exact pathogenesis and etiology of this disease has not been clear, and many approaches for RP therapies have been carried out in animals and in clinical trials. In recent years, stem cell transplantation-...

Advances in retinal imaging technology have largely contributed to the understanding of the natural history, prognostic markers and disease mechanisms of geographic atrophy (GA) due to age-related macular degeneration. There is still no therapy available to halt or slow the disease process. In order to evaluate potential therapeutic effects in interventional trials, there is a need for precise ...

Advances in retinal imaging technology have largely contributed to the understanding of the natural history, prognostic markers and disease mechanisms of geographic atrophy (GA) due to age-related macular degeneration. There is still no therapy available to halt or slow the disease process. In order to evaluate potential therapeutic effects in interventional trials, there is a need for precise ...