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Optical coherence tomography features of x-linked choroideremia
Aude Affortit-Demoge1, Giuseppe Querques, Cecilia Angulo-Bocco
1From the *Department of Ophthalmology, University of Paris XII, Centre Hospitalier Intercommunal de Creteil, Creteil, France; and the †Department of Ophthalmology, Ospedali Riuniti, University of Foggia, Foggia, Italy.
Retinal Cases & Brief Reports
|November 13, 2014
Summary
Optical coherence tomography (OCT) in X-linked choroideremia (CHM) shows retinal thinning where the choriocapillaris is lost. Preserved choriocapillaris areas maintain normal retinal thickness.
Area of Science:
- Ophthalmology
- Medical Imaging
- Genetics
Background:
- X-linked choroideremia (CHM) is a genetic retinal dystrophy.
- Understanding its pathogenesis is crucial for developing treatments.
Purpose of the Study:
- To characterize the optical coherence tomography (OCT) findings in patients with X-linked choroideremia (CHM).
Main Methods:
- A prospective, observational case series involving four patients (eight eyes) with CHM.
- Utilized color fundus photography, fluorescein angiography, indocyanine green angiography, and OCT.
Main Results:
- OCT demonstrated significant retinal thinning (mean 124 μm) and increased choroidal reflectivity in areas of choriocapillaris loss.
- Conversely, areas with preserved choriocapillaris exhibited normal retinal thickness (mean 256 μm).
Conclusions:
- OCT imaging reveals a direct correlation between the preservation of choriocapillaris and normal retinal thickness in CHM.
- OCT is a valuable tool for assessing structural changes in CHM.

