Boucher S, Rodier Bonifas C, Mathis T, Janin-Manificat H, Fleury J, Burillon C
Service d'ophtalmologie, hôpital Edouard-Herriot, hospices civils de Lyon, 5, place d'Arsonval, 69003 Lyon, France.
Service d'ophtalmologie, hôpital Edouard-Herriot, hospices civils de Lyon, 5, place d'Arsonval, 69003 Lyon, France; Faculté de médecine Lyon Est, 8, avenue Rockefeller, 69003 Lyon, France.
J Fr Ophtalmol. 2016 Feb;39(2):133-8. doi: 10.1016/j.jfo.2015.07.016. Epub 2016 Feb 8.
Retrospective study analyzing clinical characteristics and treatment of children affected by Leber-Coats' disease.
Children with Leber-Coats' disease seen in Edouard-Herriot Hospital, Lyon, between January 2004 and September 2013 were included. The following clinical characteristics were reported: sex, age at diagnosis, presenting symptom, Shields' stage, treatment used, and visual outcomes.
Ten children were included in our study. Mean age at diagnosis was 5.5 years. The disease was unilateral in 9/10 cases. The presenting symptom was loss of vision in 7/10 cases, strabismus in 3/10 cases, and microphthalmos in 1 case. The diagnosis was made fortuitously during a follow-up of familial congenital cataract in 2 patients. No cases of leukocoria were seen. Shields' stages were distributed as follows: stage 1, 2A and 2B: 1 case each, stage 3A1: 7 cases, stage>3A1: no cases. Laser photocoagulation was used up to stage 2B, combined with cryotherapy in stage 3A. Stage 1 and 2A were associated with relatively good final visual acuity. Significant macular lipid exudate (stage>2A) was associated with a worse prognosis.
These epidemiological data help us to better characterize these patients' prognosis. Early diagnosis seems to improve visual outcomes.
回顾性研究分析患有勒伯氏先天性黑蒙病的儿童的临床特征及治疗情况。
纳入2004年1月至2013年9月期间在里昂爱德华·赫里奥特医院就诊的勒伯氏先天性黑蒙病患儿。记录以下临床特征：性别、诊断时年龄、首发症状、希尔德斯分期、治疗方法及视力预后。
本研究纳入10名儿童。诊断时的平均年龄为5.5岁。10例中有9例为单眼患病。首发症状方面，10例中有7例为视力丧失，3例为斜视，1例为小眼球。2例患儿在家族性先天性白内障随访期间偶然确诊。未观察到白瞳症病例。希尔德斯分期分布如下：1期、2A期和2B期各1例，3A1期7例，>3A1期无病例。激光光凝治疗至2B期，3A期联合冷冻疗法。1期和2A期最终视力相对较好。明显的黄斑脂质渗出（>2A期）预后较差。
这些流行病学数据有助于我们更好地描述这些患者的预后情况。早期诊断似乎能改善视力预后。
