ISSN: 2155-9570
Department of Surgery, University of Puerto Rico, San Juan, Puerto Rico, USA
Case Report
Female Choroideremia Carrier: Importance of Genetic Testing and Imaging in Accurate Diagnosis
Author(s): Miguel E Hernandez-Emanuelli*, Pedro J Davila and 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... View More»
DOI:
10.35248/2155-9570.24.15.975