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

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 left exotropia, the patient's corrected-distance visual acuity (CDVA) was 20/25 in the right and 20/40 in the left eye. Fundoscopy revealed small optic nerves on both sides, and venous tortuosity in both eyes. SD-OCT displayed normal foveal contour and retinal nerve fiber layer thickness bilaterally.

CONCLUSION

This is, to the best of our knowledge, the first detailed ophthalmologic report of a patient with DSD with 2q22 duplication with a presentation of a novel phenotype.