Ocular and systemic features of Rubinstein–Taybi syndrome in a 12-year-old female

Abstract

Rubinstein–Taybi syndrome (RTS) is an extremely rare congenital neurodevelopmental disorder caused by mutation in the CREBBP and EP300 genes. It is characterized by wide and angulated thumbs and toes, facial dysmorphism, intellectual disabilities, ocular abnormalities, and postnatal growth retardation. Ocular features of the syndrome are diverse, including nasolacrimal obstructions, downslanting palpebral fissures, telecanthus, high-arched eyebrows, strabismus, glaucoma, cataract, and refractive errors. This case report discusses the ocular findings in a 12-year-old patient with the disease.