MACULAR TELANGIECTASIA TYPE 2 IN AN OTHERWISE HEALTHY TEENAGE BOY WITH CONSANGUINEOUS PARENTS.

PURPOSE: To report a case of macular telangiectasia Type 2 in a teenage boy with consanguineous parents.

METHOD: Clinical case report and literature review.

RESULTS: A healthy 14-year-old boy presented with mildly reduced vision in both eyes. Visual acuity was 20/30 in the right eye and 20/25 in the left eye. Fundus examination revealed intraretinal crystals in both eyes and an intraretinal pigment plaque temporal to the fovea in the left eye. Neither eye showed evidence of choroidal neovascular membrane or peripheral telangiectasia. Fluorescein angiography revealed temporal juxtafoveal leakage in both eyes. Spectral-domain optical coherence tomography showed ellipsoid layer and external limiting membrane disruption in the right eye and an inner retinal pigment plaque with shadowing in the left eye. The patient was of South Asian descent, and his parents were first cousins. His younger brother and parents were unaffected with a normal fundus examination.

CONCLUSION: This is the youngest reported case of a healthy individual with MacTel Type 2, which usually manifests in the fifth or sixth decade. This is also the only reported case of MacTel Type 2 with consanguineous parents. This proband offers a unique opportunity to study possible monogenic etiologies of the condition.