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T Fukuchi, T Hirose; Clinical course in Norrie disease . Invest. Ophthalmol. Vis. Sci. 2002;43(13):1177.
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Purpose:To describe a clinical course of Norrie disease with a special emphasis on the early stage and a possible treatment option. Methods:Complete ophthalmological examinations that included the examination under general anesthesia were performed in 22 eyes of 11 boys. The ages of patients at our initial examination period ranged from 2 weeks to 4 years (mean: 11.3 months, SD: 16 months). The diagnosis was made from the clinical findings, positive family history of blindness consistent with X-linked recessive trait, and positive DNA test. Fundus photographs, fluorescein angiogram, and ultrasonogram were performed whenever indicated. Results:Five eyes of 6 patients showed leukocoria with no view of the fundus at initial visit. Fundus examination and ultrasonogram revealed vitreous hemorrhage in 6 eyes, retinal detachment (RD) in 21 eyes (partial RD in 6, funnel shaped RD in 13 eyes), and subretinal hemorrhage with total RD in 8. Most infants were found to have a total retinal detachment at the age of 2 months. Persistent hyaloid system was observed in all eyes at initial visit. Ten cases underwent vitrectomy (6 closed vitrectomies and 4 open sky vitrectomies) and these eyes failed to reattach the retina or keep the retina attached except for one. In this eye, the multiple vessels run over the surrounding retina only for a short distance from the disc; major portion of the retina was avascular, and hyaloid system persisted. Vision at 2 years and 9 months followed-up after surgery was 20/540. Six patients aged 2 weeks to 2 months allowed us to observe relatively early stage of the disease before they probably would have developed total retinal detachment. Conclusion:Persistent hyaloid artery with arrested development of the retinal vessels appears in early findings of Norrie disease. Vitreous hemorrhage occurs early followed by retinal detachment. Clinical course starting from vitreous hemorrhage to total retinal detachment in cases we could observe was alarmingly rapid. Early vitrectomy before the retinal detachment becomes extensive may save same vision in Norrie disease.
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