Macular Degeneration, X-Linked Atrophic malady
Category: Genetic diseases (common)
Aliases & Descriptions for Macular Degeneration, X-Linked Atrophic:
macular degeneration, x-linked atrophic:
Inheritance: x-linked recessive inheritance
UniProtKB/Swiss-Prot:68 Macular degeneration, X-linked, atrophic: An 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.
MalaCards based summary: Macular Degeneration, X-Linked Atrophic, is also known as macular degeneration, x-linked, atrophic, and has symptoms including macular degeneration and reduced visual acuity. An important gene associated with Macular Degeneration, X-Linked Atrophic is RPGR (Retinitis Pigmentosa GTPase Regulator).
Description from OMIM:50 300834
Genetic tests related to Macular Degeneration, X-Linked Atrophic:
Search GEO for disease gene expression data for Macular Degeneration, X-Linked Atrophic.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet