Familial Exudative Vitreoretinopathy Initially Diagnosed as Incontinentia Pigmenti in an Asymptomatic Teenager: A Case Report.

ABSTRACT: In this case report, we aim to illustrate a presentation of familial exudative vitreoretinopathy (FEVR) that closely resembles incontinentia pigmenti (IP) and the role of genetic testing that is of no cost to the patient in providing the correct diagnosis. We present a case of an 11-year-old female-to-male transgender patient with a history of hypodontia and skin hypopigmentation who was incidentally found to have a retinal lesion on ultra-widefield fundus imaging during routine screening. Ultra-widefield fluorescein angiography confirmed bilateral peripheral ischemic retinopathy that was successfully treated with laser. The patient was presumed to have IP; however, genetic testing was negative. Due to cost, further genetic testing was declined by the family, and the patient had no further

SUBMITTER: Karmouta R 

PROVIDER: S-EPMC10673348 | biostudies-literature | 2023 Jan-Dec

REPOSITORIES: biostudies-literature