Journal of Clinical and Experimental Ophthalmology
Open Access
ISSN: 2155-9570
ISSN: 2155-9570
Department of Ophthalmology and Visual Sciences, Louisiana State University, New Orleans, LA 70112, USA
Case Report
Use of Multimodal Imaging for Early Diagnosis of Choroideremia in an Asymptomatic Young Adult
Author(s): Casey Contreary* and 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 o.. View More»
DOI:
10.35248/2155-9570.21.s18.001