Журнал клинической и экспериментальной офтальмологии
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Use of Multimodal Imaging for Early Diagnosis of Choroideremia in an Asymptomatic Young Adult

Casey Contreary* , Maria Reinoso

Choroideremia is a rare, X-linked chorioretinal dystrophy caused by mutations in the CHM gene. Diagnosis is suggested by the characteristic phenotype, X-linked family history and level of Rab Escort Protein 1 (REP1) in peripheral blood mononuclear cells. Genetic testing is essential for confirmation. This case describes the use of multimodal imaging for early diagnosis of choroideremia in an asymptomatic young adult. A 27-year-old asymptomatic male was referred to the retina clinic at Louisiana State University Health Care Network in March 2020 for incidental findings. He did not have any visual complaints. His clinical examination was subtle relative to the classic extensive chorioretinal atrophy with scleral exposure typically seen on fundus examination and color fundus photography in choroideremia. Multimodal imaging findings prompted genetic testing leading to an early diagnosis of choroideremia. Multimodal imaging helps understand the natural history and improved evaluation and diagnosis of rare conditions.