Best-like vitelliform maculopathy in a child with Kabuki syndrome: A novel association

Kabuki syndrome (KS), also known as Niikawa–Kuroki syndrome, is a rare genetic disorder with an estimated incidence of 1 in 32,000 births, characterized by distinctive facial features, developmental delay, and multisystem involvement. Ocular manifestations include ptosis, strabismus, and, less commonly, retinal anomalies. Maculopathy is extremely rare in KS, with only a few cases reported to date. We report a unique case of a child with genetically confirmed Kabuki syndrome presenting with Best-like macular lesions, adding to the limited literature on retinal involvement in this condition.