Ophthalmologic features in a female-phenotype 46,XY patient with 2q22.2 duplication.

Abstract excerpt

AIM: We describe the ophthalmologic findings in a patient with a disorder of sex development (DSD) and chromosome 2q22 duplication. METHODS: The patient underwent a comprehensive ophthalmologic examination including visual acuity testing, refraction, slit-lamp biomicroscopy, fundus examination, spectral-domain optical coherence tomography (SD-OCT), and fundus autofluorescence. RESULTS: Other than a large-angle...

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