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Table 1 Ocular clinical characteristics of 48, XXYY syndrome in previous studies

From: Macular hypoplasia and high myopia in 48, xxyy syndrome: a unique case of 48, xxyy syndrome that presents with high myopia and macular dysplasia

Patient

Ocular finding

Reference

12y,Male

Duane syndrome and mild myopia

Weis et al., 2011

8m,Male

Alternating exotropia, foveal hypoplasia and reduction of the foveal avascular zone

Chen et al., 2023

28y,Male

Lightly pigmented retinal pigment epithelium and choroid, peripapillary atrophy, pattern visual evoked potentials and pattern electroretinogram were undetectable bilaterally and high myopia

Karampelas et al., 2013