Ocular manifestations in classic homocystinuria
Patrícia Ioschpe Gus, Karina Carvalho Donis, Diane Ruschel Marinho, Tiago Franco Martins, Carolina Fischinger Moura de Souza, Rafael Barboza Carloto, Gabriel Leivas, Ida Vanessa Döederlein Schwartz
Abstract
BACKGROUND: Classic homocystinuria (HCU), or cystathionine beta-synthase (CBS) deficiency, is a rare inborn error of methionine metabolism. Main clinical features may include skeletal and vascular manifestations, developmental delay, intellectual disability and eye disorders. MATERIAL AND METHODS: This is an observational and retrospective study aiming at describing eye abnormalities presented by a cohort of late-diagnosed HCU patients. Data regarding ophthalmological evaluation included visual acuity, refraction, biomicroscopy, Perkins tonometry, fundus examination, retinography, biometry, ocular ultrasound, optical coherence tomography, anterior segment photography and topography. RESULTS: (n = 20) and myopia (n = 9). Biometry, ultrasound, OCT and topography findings were available for four patients. One patient had keratoconus; one had abnormal retinal pigmentation; and two had lens surgery scars with irregular astigmatism. CONCLUSIONS: should always raise the diagnostic hypothesis of HCU.