Rare Diseases Symptoms Automatic Extraction

Macular dystrophy in Kabuki syndrome: a new clinical feature?

[kabuki syndrome]

Kabuki syndrome is a rare and genetically heterogenous condition that has both systemic and ophthalmic complications. Macular dystrophy has not previously been noted in conjunction with this syndrome. The authors present a 14-year-old girl with Kabuki syndrome with macular dystrophy and confirmatory electrodiagnostics.