한국인 레베르선천흑암시 환자의 임상양상

Clinical Characteristics of Leber`s Congenital Amaurosis in Korea

Purpose: To study the clinical characteristics and visual prognosis of Leber’s congenital amaurosis in Korea. Methods: Children who were diagnosed with Leber`s congenital amaurosis at Seoul Natioanl University Children`s Hospital between 1992 and 2004, were included in this study. The medical records pertaining to the clinical characteristics and visual outcomes of the patients were retrospectively reviewed. Results: The mean age of the patients at presentation and during the subsequent follow-up period was 15.5 and 62.7 months, respectively. The principal symptoms included lack of fixation (69.0%) and nystagmus (23.8%). At first observation, nystagmus was found in 40 patients, and the appearance of the fundi were variable, including `normal` (23.8%), pigmentary degeneration (54.8%), vascular attenuation (35.7%) and macular coloboma (19.0%). At the age of three to five years, 44.4% of patients had hyperopia greater than +5D. At the time of last follow-up, the visual acuities of the patients who were examined after the age of four were `hand motion` in 68.7%, ≥20/400 in 9.4%. No patient had visual acuity better than 20/200. Eight (25%) patients could read with glasses or low-vision aids. Conclusions: The visual prognosis of patients with Leber’s congenital amaurosis was poor in most cases, but a majority of our patients displayed a stable clinical course. Progression was rare, and one fourth of the patients were able to read with appropriate aides. In conclusion, regular follow-up care to assess visual function is necessary for optimal outcomes.