A UNILATERAL FOVEAL VITELLIFORM LESION IN A CHOROIDEREMIA CARRIER

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

A retrospective case report, assessment of the best-corrected visual acuity, fundus photography, wide-angle scanning laser ophthalmoscopy, optical coherence tomography, and microperimetry.

A 37-year-old woman with a pathogenic 907C>T mutation in the choroideremia gene encoding Rab escort protein-1 presented with blurred vision in her left eye.The Snellen best-corrected visual acuity was 20/20 in the right eye and 20/32 in the left eye, a unilateral decrease because 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 1,300 µ m 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.

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