Журнал клинической и экспериментальной офтальмологии
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Female Choroideremia Carrier: Importance of Genetic Testing and Imaging in Accurate Diagnosis

Miguel E Hernandez-Emanuelli, Pedro J Davila, Natalio J Izquierdo

Choroideremia (CHM), a rare chorioretinal dystrophy with an incidence of 1 in 50,000 to 1 in 100,000, is marked by progressive atrophy of the retina and choroid. Choroideremia is caused by mutations in the CHM gene, which encodes Rab Escort Protein-1 (REP-1), involved in vesicular trafficking. Often misdiagnosed as Retinitis Pigmentosa (RP), distinguishing them is crucial. We present a case of choroideremia initially misdiagnosed as RP, emphasizing the importance of genetic testing and fundus auto-fluorescence imaging. Accurate diagnosis is essential for proper genetic counseling and timely enrollment in emerging gene therapies. This case highlights the role of multi-modal imaging in guiding the diagnostic process for choroideremia.