Rubinstein Taybi syndrome with secondary glaucoma: An unusual case report and review of literature

Abstract

Rubinstein Taybi syndrome is a rare neurodevelopmental disorder characterized by broad thumbs and first toe, microcephaly, developmental delay, beaked nose, talon cusps, and various systemic abnormalities like cardiac defects, hearing loss, respiratory infections, and ocular abnormalities which are common with this syndrome. The various ocular abnormalities reported in the literature are corneal opacities, lacrimal gland abnormalities, strabismus, coloboma, retinal dysfunction, and congenital glaucoma. We hereby report the case of a 7-year-old boy who presented in the glaucoma clinic of a tertiary eye care center with large eyeballs and a typical dysmorphic face characterized by high-arched brows with a low-hanging columella, grimacing smile, talon cusps, diffuse corneal haze, and enlarged corneal diameters (12.5 mm) and who was subsequently diagnosed with congenital glaucoma after evaluation under anesthesia (EUA). EUA revealed raised intraocular pressure (IOP) of 22 mmHg, and optic never head cupping in the right eye (RE) was 0.8:1 the other eye had a total leucomatous corneal opacity. The child was started on topical antiglaucoma medication in RE, and subsequent evaluation revealed well-controlled IOP on these medications.