Multimodal imaging of an RPGR carrier female. (4th May 2021) - Kilgore, David A.
ABSTRACT: Background : Retinitis pigmentosa GTPase regulator ( RPGR ) gene mutations are a common cause of X-linked retinitis pigmentosa and X-linked cone-rod dystrophy. There have been no previous reports of association with crystalline retinopathy or pseudo-crystalline retinopathy. Materials and Methods : We describe the history, clinical findings, retinal imaging, and electrodiagnostic studies of a patient with a tapetal-like reflex (TLR) and pseudo-crystalline retinopathy secondary to RPGR mutation. Case Description : Asymptomatic TLR secondary to RPGR mutation was diagnosed in a 14-year-old African American female with a family history of retinal dystrophy and no other past ophthalmic or medical history. Pseudo-crystalline retinopathy was observed on the Optos scanning laser ophthalmoscopy (SLO) imaging system but not on color fundus photography (CFP). Evidence of a TLR secondary to RPGR mutation was confirmed by CFP, autofluorescence, and genetic testing. Conclusion : We present a case of pseudo-crystalline retinopathy seen on Optos imaging in a patient with a TLR secondary to RPGR mutation.