Disease - Macular degeneration, atrophic, X-linked
- DefinitionAn ocular disorder characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment. Some patients manifest extensive macular degeneration plus peripheral loss of retinal pigment epithelium and choriocapillaries. Full-field electroretinograms (ERGs) show normal cone and rod responses in some affected males despite advanced macular degeneration.
- AcronymMDXLA
- Cross references
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Browse 1 entry- X-linked retinitis pigmentosa GTPase regulator · Gene: RPGR (RP3, XLRP3) · Homo sapiens (Human) · 1020 amino acids · Evidence at protein level · Annotation score: 5/5