Multimodal imaging of an RPGR carrier female

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.

KEYWORDS:

• Tapetal-like reflex
• crystalline retinopathy
• retinitis pigmentosa GTPase regulator gene (RPGR)
• female carrier
• inherited retinal degeneration

Declaration of Interest

The authors have no conflicts of interest to declare. The authors alone are responsible for the content and writing of this article.

Additional information

Funding

This work was sponsored in part by an endowment from the Martha Wood Bentley Chair in Ophthalmology.