목적 : 한국인 레베르선천흑암시 환자의 임상양상과 시력 예후에 대해 알아본다. 대상과 방법 : 1992년에서 2004년까지 서울대학교병원 소아안과에서 레베르선천흑암시로 진단된 42명의 환자들을 대상으로 후향적 연구를 시행하였다. 환자들은 생후 6개월 이전에 발견된 심한 시력 저하 소견이 있었고, 망막전위도검사에서 반응이 모두 소실되어 있었다. 결과 : 초진시 평균 연령, 평균 추적 관찰 기간은 각각 15.5, 62.7개월이었다. 주소는 눈을 맞추지 못함이 66.7%, 눈떨림이 23.8%였다. 초진시 눈떨림은 40명의 환자에서 관찰되었고, 안저 소견은 다양하여 정상 23.8%, 망막 색소 변성 54.8%, 혈관 세약 35.7%, 황반 결손 19.0% 등이었다. 3～5세에서 44.4%가 +5D 이상의 원시를 보였다. 4세 이후 시력을 측정한 환자의 마지막 경과 관찰시 시력은 68.7%가 안전수동 이하였고, 9.4%만이 20/400 이상이었고, 20/200보다 좋은 시력을 가진 경우는 없었다. 이 중 8명(25%)의 환자가 저시력 보조기구나 안경의 도움으로 글을 읽을 수 있었다. 결론 : 레베르선천흑암시는 시력 예후가 매우 불량한 것으로 알려져 있지만 1/4은 글을 읽을 수 있고, 1/3은 혼자서 거동이 가능하였다. 따라서 적극적인 경과 관찰을 통해 시력 획득에 노력해야 한다.

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.

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.

Leber's congenital amaurosis, Nystagmus, Congenital retinal dystrophy, Visual prognosis, Congenital blindness