PMID: 9541447Apr 16, 1998Paper

Congenital glaucoma associated with Rubinstein-Taybi syndrome

Acta Ophthalmologica Scandinavica
L Quaranta, C A Quaranta

Abstract

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. Examination of this patient revealed bilateral antimongoloid slants of the palpebral fissures, and bilateral congenital glaucoma. Gonioscopic examination revealed the iris to be inserted flatly into the trabecular meshwork. This case emphasizes the importance of detailed, complete ocular examinations in patients with Rubinstein-Taybi syndrome, and also highlights the occurrence of ocular abnormalities rarely associated with this disease.

Citations

Jun 23, 2012·Eye·J DaCosta, J Brookes
Sep 27, 2000·The British Journal of Ophthalmology·M M van GenderenR C Hennekam
Sep 4, 2012·Clinical Ophthalmology·David J JacobsElizabeth Hodapp
Aug 18, 2009·Survey of Ophthalmology·Mohamed A NassrZeynel A Karcioglu
Jan 30, 2004·Clinical & Experimental Ophthalmology·Jane R MacKinnonDavid A Mackey
May 5, 2017·Ophthalmic Plastic and Reconstructive Surgery·Mohammad Javed Ali, Friedrich Paulsen
Jan 27, 2021·Journal of Pediatric Ophthalmology and Strabismus·Helen H Yeung
Mar 9, 2006·Journal français d'ophtalmologie·P Dureau

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