X-linked cone-rod dystrophy 1 (CORDX1, COD1)

Epidemiology

rare, males

Pathology

• primarily affects the cone photoreceptors
• granularity of the macular retinal pigment epithelium

Genetics

• X-linked
• mutations in RPGR gene
• penetrance nearly 100%

Clinical manifestations

• progressive disorder
• decreased visual acuity
• myopia
• photophobia
• abnormal color vision
• full peripheral visual fields
• granularity of the macular retinal pigment epithelium
• variable age at onset & severity of symptoms

Diagnostic procedures

• decreased photopic electroretinographic responses

More general terms

• X-linked cone-rod dystrophy

Additional terms

• retinitis pigmentosa type 3 (RP3)
• retinitis pigmentosa, X-linked with deafness & sinorespiratory infections
• X-linked retinitis pigmentosa GTPase regulator (RPGR, RP3, XLRP3)

Database

• OMIM: https://mirror.omim.org/entry/304020