Pauleikhoff D, Bornfeld N, Bird A C, Wessing A
Universitäts-Augenklinik, Essen, Federal Republic of Germany.
Graefes Arch Clin Exp Ophthalmol. 1992;230(4):362-5. doi: 10.1007/BF00165946.
Facioscapulohumeral (FSH) muscular dystrophy is known to be associated with retinal telangiectasis. However, there are only few reports of severe visual loss due to exudative complications, so the risk to vision has not been established. Because of the possible therapeutic implications, we have described two cases of young girls who developed FSH muscular dystrophy and exudative retinal detachment due to telangiectasis. In the first patient, the severity of the disease precluded visual recovery despite extensive photo- and cryotherapy. In the other, visual acuity in both affected eyes was retained after treatment. Fundus examinations in young children at risk of having the gene for FSH muscular dystrophy may be justified so that retinal vascular disease can be detected before it becomes untreatable.
面肩肱型（FSH）肌营养不良症已知与视网膜毛细血管扩张有关。然而，仅有少数关于渗出性并发症导致严重视力丧失的报道，因此视力风险尚未明确。鉴于可能的治疗意义，我们描述了两例患有FSH肌营养不良症并因毛细血管扩张导致渗出性视网膜脱离的年轻女孩病例。在首例患者中，尽管进行了广泛的光凝和冷冻治疗，但疾病的严重程度使视力无法恢复。在另一例患者中，治疗后双眼视力得以保留。对有FSH肌营养不良症基因风险的幼儿进行眼底检查可能是合理的，以便在视网膜血管疾病变得无法治疗之前就能检测到。
