Quality of life and long-time follow-up of patients with optic nerve hypoplasia.

PURPOSE: To assess long-term outcome of visual function, comorbidities, and quality of life in patients with optic nerve hypoplasia (ONH). METHODS: We retrospectively analyzed the medical data of ONH patients. The study cohort comprised a subset of patients who had participated in a 2009-2012 population-based study of ONH patients, supplemented by a smaller group of patients who were examined subsequently. Patients who participated in follow-up examination from 2018 to 2021 were included. Best-corrected visual acuity (BCVA), retinoscopy, visual fields, and ocular characteristics were examined, and records were accessed for comorbidities. The Pediatric Quality of Life Inventory (PedsQL) was used to assess health-related quality of life in the final cohort. RESULTS: A total of 31 patients were included, 22 of whom had participated in the earlier study. Of the 31, 23 had bilateral disease. Median age at the first visit was 7.8 years (range, 0.4-19.2), and age at follow-up was 16.3 years (range, 9.0-28.3); median follow-up was 8.5 years (range, 5.1-12.6). Median BCVA in the better-seeing eye of patients with bilateral disease improved from 0.25 (range, 0-1.0) at first visit to 0.57 (range, 0-1.3) at follow-up (P = 0.11). There was no difference in cycloplegic refraction. Visual field defects were common. Optic disk parameters remained unchanged. Significant neurological, cognitive, endocrinological, and neuropsychiatric comorbidities were frequent. PedsQL demonstrated a composite score of 63.6 (range, 19.8-100), with the highest scores in physical and lowest in school functioning, with strong correlation between BCVA and the patients' PedsQL scores (P = -0.728). CONCLUSIONS: Poor BCVA in ONH children persisted throughout adolescence. PedsQL scores, which have not been reported previously, were low compared to other chronic extraocular diseases and correlated strongly with BCVA, although hormonal and neurological comorbidities were common.