Visual functions, ocular characteristics and visual quality of life in patients with homocystinuria.
Aran KoyeMattias Nilsson BenfattoDavid M EpsteinMikael OscarsonKristina Teär FahnehjelmPublished in: Ophthalmic genetics (2024)
The prevalence of myopia, ectopia lentis and monocular blindness was high in HCU-patients, which was reflected in their visual quality of life. Diagnosis was often delayed after the first ocular manifestation, increasing the risk of other severe non-ocular complications.