Background: 48, XXYY syndrome is a rare sex chromosome aneuploidy with severe systemic features. Ophthalmic manifestation of 48, XXYY syndrome include hypertelorism, epicanthic folds, hooded eye lids, strabismus, retinitis pigmentosa and Duane's syndrome.
Case: We present mild foveal hypoplasia in a 12-year-old boy with 48, XXYY syndrome using swept-source optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA). The boy was referred for assessment of strabismus and poor visual acuity. OCT revealed persistence of inner retinal layers, and thinning of the outer nuclear layer in the perifoveal region with thickening of the outer plexiform layer. OCTA revealed increased vessel density with reduced foveal avascular zone.
Conclusion: We described novel OCT and OCTA features of bilateral foveal hypoplasia and reduction of FAZ in a case of 48, XXYY syndrome based on detailed clinical observation and thorough genetic testing. This case expanded the current literature of this rare sex chromosome abnormality and suggest the importance of retinal examinations in 48, XXYY syndrome.
Keywords: 48, XXYY syndrome; OCT; OCTA; foveal hypoplasia.