Ocular manifestations in classic homocystinuria

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 Ten patients with HCU (20 eyes) were included. The most frequent findings wereectopia lentis(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 Eye abnormalities are very frequent in late-diagnosed HCU patients. The presence ofectopia lentisshould always raise the diagnostic hypothesis of HCU.

Automated summary

Eye abnormalities are common in late-diagnosed HCU patients, with ectopia lentis and myopia being the most frequent findings. Regular ophthalmological evaluations are important for these patients.