retinitis pigmentosa type 3 (RP3)

Pathology

• choroidoretinal degeneration

Genetics

• mutations in RPGR gene

Clinical manifestations

• no visual defects
• scintillating, golden-hued, patchy appearance most apparent around the macula (tapetal-like retinal reflex)

More general terms

• retinitis pigmentosa (RP)

Additional terms

• retinitis pigmentosa, X-linked with deafness & sinorespiratory infections
• X-linked cone-rod dystrophy
• X-linked retinitis pigmentosa GTPase regulator (RPGR, RP3, XLRP3)

Database

• OMIM: https://mirror.omim.org/entry/300389
• OMIM: https://mirror.omim.org/entry/312610