RESUMEN
Resumo É relatado o caso de duas pacientes gemelares idênticas do sexo feminino portadoras de distrofia retiniana em investigação. A principal hipótese diagnóstica é a amaurose congenita de leber. Foi realizada avaliação pelo setor de visão subnormal em centro oftalmológico, com orientação de uso de recursos ópticos e não ópticos para melhoria principalmente das relações socioeducativas das pacientes.
Abstract In this paper, we report a two identical female twin patients with retinal distrophy in investigation. The main diagnostic hypothesis is the leber congenital amaurosis. The patients were evaluated by the Low Vision Center at the Hospital Oftalmologico de Sorocaba, São Paulo-Brazil, using optical and non-optical resources for mainly patient's socio-educational relationship improvement.
RESUMEN
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.
Asunto(s)
Niño , Humanos , Ceguera , Coloboma , Anteojos , Estudios de Seguimiento , Vidrio , Hiperopía , Corea (Geográfico) , Registros Médicos , Pronóstico , Estudios Retrospectivos , Seúl , Agudeza VisualRESUMEN
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.