X-linked atrophic macular degeneration

X-linked atrophic macular degeneration is a severe peripheral retinal degeneration leading to global blindness. It has been reported that affected males had primarily macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment. It has been identified that a nonsense mutation in RPGR causes this disease. RPGR encodes a protein crucial for the transport of visual signal proteins between the photoreceptor inner and outer segments.

Nervous system disease

RPGR [HSA:6103] [KO:K19607]

PMID:12160730