J Korean Ophthalmol Soc > Volume 48(9); 2007 > Article
Journal of the Korean Ophthalmological Society 2007;48(9):1257-1262.
DOI: https://doi.org/10.3341/jkos.2007.48.9.1257    Published online September 30, 2007.
Clinical Characteristics of Leber's Congenital Amaurosis in Korea.
Joon Seo Hwang, Jeong Hun Kim, Ho Kyung Choung, Jang Won Heo, Seong Joon Kim, Young Suk Yu
1Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea. ysyu@snu.ac.kr
2Department of Ophthalmology, Seoul Municipial Boramae Hospital, Seoul, Korea.
3Seoul Artificial Eye Center, Seoul National University Hospital Clinical Research Institute, Seoul, Korea.
한국인 레베르선천흑암시 환자의 임상양상
황준서1,3,김정훈1,3,정호경1,2,허장원1,2,김성준1,3,유영석1,3
Department of Ophthalmology, Seoul National University College of Medicine1, Seoul, Korea Department of Ophthalmology, Seoul Municipial Boramae Hospital2, Seoul, Korea Seoul Artificial Eye Center, Seoul National University Hospital Clinical Research Institute3, Seoul, Korea
Correspondence:  Young Suk Yu, M.D.
Abstract
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%, > or =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.
Key Words: Leber's congenital amaurosis;Nystagmus;Congenital retinal dystrophy;Visual prognosis;Congenital blindness


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