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Rigshospitalet - en del af Københavns Universitetshospital
E-pub ahead of print

A unilateral foveal vitelliform lesion in a choroideremia carrier

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PURPOSE: To describe a unilateral foveal vitelliform lesion associated with subnormal visual acuity in a choroideremia carrier.

METHODS: Retrospective case report, assessment of best-corrected visual acuity, fundus photography, wide-angle scanning laser ophthalmoscopy, optical coherence tomography, and microperimetry.

PATIENT: A 37-year-old woman with a pathogenic 907C>T mutation in the choroideremia gene encoding Rab escort protein-1 (REP-1) presented with blurred vision in her left eye.

RESULTS: Snellen best-corrected visual acuity was 20/20 in the right eye and 20/32 in the left eye, a unilateral decrease since it was 20/20 in both eyes at the most recent examination nine years earlier. In the left eye, a large vitelliform lesion with a diameter of 1300 µm had developed in the fovea, whereas in the right eye, a smaller similar lesion was seen close to the fovea. Both eyes showed classical radial patterns of multiple bright fundus patches with associated autofluorescence defects and focal drusenoid lesions of the outer retina.

CONCLUSION: With its large size and foveal location the vitelliform lesion in this patient's left eye is an unusual manifestation in an otherwise common REP-1 mutation carrier state, and its unilaterality fits the assumption of random X-chromosome inactivation.

OriginalsprogEngelsk
TidsskriftRetinal Cases & Brief Reports
ISSN1935-1089
DOI
StatusE-pub ahead of print - 2021

ID: 62051836