Multimodal imaging of an RPGR carrier female. (4th May 2021)

• Record Type: Journal Article
• Authors: Kilgore, David A.; Kilgore, Tyler A.; Sukpraprut-Braaten, Suporn; Schaefer, Gerald B.; Uwaydat, Sami H.
• Is Part Of: Ophthalmic genetics. Volume 42:Number 3(2021)
• Page Start: 312
• Page End: 316
• Publication Date: 2021-05-04
• Subjects: Tapetal-like reflex -- crystalline retinopathy -- retinitis pigmentosa GTPase regulator gene (RPGR) -- female carrier -- inherited retinal degeneration; Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.1080/13816810.2021.1881981
• Languages: English
• ISSNs: 1381-6810

Abstract

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.