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Scholars Journal of Medical Case Reports | Volume-10 | Issue-11
Multimodal Imaging of Retinochoroidopathy in Choroideremia Carrier
Shinji Makino
Published: Nov. 5, 2022 | 224 188
DOI: 10.36347/sjmcr.2022.v10i11.003
Pages: 1081-1084
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Abstract
A 48-year-old woman was referred for ocular fundus abnormality by medical checkup. She had no subjective complaints. Fundus examination revealed diffuse moth-eaten appearance with chorioretinal atrophy in both eyes. Moreover, patchy areas of depigmentation were observed around the optic disc and in the peripheral retina. Fundus autofluorescence showed mosaic appearance in widespread retina, and patchy hypoautofluorescence areas corresponding to patchy areas of depigmentation. Although optical coherence tomography scan through the fovea of both eyes showed relatively preserved foveal contour and retinal layers, subtle irregularities at the level of the retinal pigment epithelium and ellipsoid zone observed. Based on these collective findings, we diagnosed our patient with retinochoroidopathy in choroideremia carrieir. Choroideremia is rare, occurring even less frequently as a symptomatic disease in female carriers. Our findings may contribute to a better understanding of this rare condition.