
Congenital glaucoma associated with Rubinstein‐Taybi syndrome
Author(s) -
Quaranta Luciano,
Quaranta Carlo A.
Publication year - 1998
Publication title -
acta ophthalmologica scandinavica
Language(s) - Uncategorized
Resource type - Journals
eISSN - 1600-0420
pISSN - 1395-3907
DOI - 10.1034/j.1600-0420.1998.760122.x
Subject(s) - rubinstein–taybi syndrome , medicine , palpebral fissure , glaucoma , ptosis , congenital disorder , eyelid , hypoplasia , ophthalmology , surgery , dermatology
Rubinstein-Taybi syndrome is a constellation of clinical findings characterized by mental and motor retardation, broad thumbs and broad first toes, marked growth retardation, microcrania, typical facies, high-arched palate, and cryptorchidism in males. Ocular and adnexal abnormalities are quite common and include antimongoloid slant of the palpebral fissures, epicanthal folds, congenital obstruction of the lacrimal excretory system, ptosis, strabismus, and severe ametropia. Macrocornea, microophthalmos, colobomas of the iris and of the optic nerve head, congenital cataract, and optic nerve atrophy have also been described. Congenital glaucoma is a rare complication. We examined a patient with Rubinstein-Taybi syndrome with bilateral congenital glaucoma.