David A Kilgore1, Tyler A Kilgore2, Suporn Sukpraprut-Braaten3, Gerald B Schaefer4, Sami H Uwaydat1. 1. Jones Eye Institute, Department of Ophthalmology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA. 2. College of Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA. 3. Department of Graduate Medical Education, Unity Health-White County Medical Center, Searcy, Arkansas, USA. 4. Department of Genetics, Arkansas Children's Hospital, Little Rock, Arkansas, USA.
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.
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.