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X-linked cone-rod dystrophy 1 (CORDX1, COD1)
Epidemiology: rare, males
Pathology:
1) primarily affects the cone photoreceptors
2) granularity of the macular retinal pigment epithelium
Genetics:
1) X-linked
2) mutations in RPGR gene
3) penetrance nearly 100%
Clinical manifestations:
1) progressive disorder
2) decreased visual acuity
3) myopia
4) photophobia
5) abnormal color vision
6) full peripheral visual fields
7) granularity of the macular retinal pigment epithelium
8) variable age at onset & severity of symptoms
Special laboratory:
- decreased photopic electroretinographic responses
Related
retinitis pigmentosa type 3 (RP3)
retinitis pigmentosa, X-linked with deafness & sinorespiratory infections
X-linked retinitis pigmentosa GTPase regulator (RPGR, RP3, XLRP3)
General
X-linked cone-rod dystrophy
Database Correlations
OMIM 304020
References
- OMIM :accession 304020