Smith Kate A V, Jones Sophie M, Nischal Ken K
From the Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children, London, United Kingdom.
Am Orthopt J. 2009;59:76-83. doi: 10.3368/aoj.59.1.76.
Epidermolysis bullosa (EB) is a genetic disorder resulting in blistering of the skin and mucous membranes. While ocular surface complications in EB patients are well documented, there are no reports* on the incidence of refractive errors and orthoptic problems in these patients.
Fifty-five consecutive EB patients underwent examination including visual acuity, cover test, ocular motility and assessment of binocular single vision, cycloplegic refraction, and fundus examination.
Twenty-one of the 55 patients (38%) had reduced visual acuity (0.3 logMAR or less) in at least one eye, and 13 / 55 (24%) had bilaterally reduced visual acuity. Twenty-nine percent of patients had refractive errors; 20% hypermetropic, 5% myopic, 16% astigmatism, and 11% anisometropic. Fifteen percent of patients had a constant or intermittent tropia; 9% exotropia and 4% esotropia. Thirteen percent of patients had a significant phoria (> 10(Δ)); all were exophoric. Sixteen percent had convergence insufficiency. This cohort of EB patients demonstrated a high prevalence of reduced visual acuity, strabismus and refractive errors compared with normal pediatric data from the literature.
A large proportion of patients with EB across the subgroups have clinically significant refractive errors and strabismus. In view of the improved survival of EB patients, visual morbidity is of increasing importance. This study highlights the need for careful orthoptic and ophthalmic surveillance of children with EB.
大疱性表皮松解症（EB）是一种导致皮肤和黏膜出现水疱的遗传性疾病。虽然EB患者眼部表面并发症已有充分记录，但尚无关于这些患者屈光不正和斜视问题发生率的报道。
连续55例EB患者接受了包括视力、遮盖试验、眼球运动及双眼单视评估、散瞳验光和眼底检查在内的检查。
55例患者中有21例（38%）至少一只眼睛视力下降（LogMAR视力0.3或更低），13例（24%）双眼视力下降。29%的患者有屈光不正；20%为远视，5%为近视，16%为散光，11%为屈光参差。15%的患者有恒定性或间歇性斜视；9%为外斜视，4%为内斜视。13%的患者有明显的隐斜（>10棱镜度）；均为外隐斜。16%的患者有集合不足。与文献中正常儿童数据相比，这组EB患者视力下降、斜视和屈光不正的患病率较高。
各亚组中很大一部分EB患者有具有临床意义的屈光不正和斜视。鉴于EB患者存活率的提高，视觉损害的重要性日益增加。本研究强调了对EB患儿进行仔细的斜视和眼科监测的必要性。
