[Leber-Coats' disease: A retrospective study of 10 patients].

INTRODUCTION

Retrospective study analyzing clinical characteristics and treatment of children affected by Leber-Coats' disease.

METHOD: 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.

RESULTS

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.

CONCLUSION

These epidemiological data help us to better characterize these patients' prognosis. Early diagnosis seems to improve visual outcomes.