National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Ophthalmology. 2011 Dec;118(12):2335-42. doi: 10.1016/j.ophtha.2011.05.036. Epub 2011 Sep 28.
Trichothiodystrophy (TTD) is a rare, autosomal recessive disorder characterized by sulfur-deficient brittle hair and multisystem abnormalities. Many TTD patients have a defect in known DNA repair genes. This report systematically evaluates the ocular manifestations of the largest-to-date cohort of TTD patients and xeroderma pigmentosum (XP)/TTD patients.
Case series.
Thirty-two participants, ages 1 to 30 years, referred to the National Eye Institute for examination from 2001 to 2010; 25 had TTD and 7 had XP/TTD.
Complete, age- and developmental stage-appropriate ophthalmic examination.
Visual acuity (VA), best-corrected VA, ocular motility, state of the ocular surface and corneal endothelial cell density, corneal diameter, and lens assessment.
Developmental abnormalities included microcornea (44% TTD), microphthalmia (8% TTD, 14% XP/TTD), nystagmus (40% TTD), and infantile cataracts (56% TTD, 86% XP/TTD). Corrective lenses were required by 65% of the participants, and decreased best-corrected VA was present in 28% of TTD patients and 71% of XP/TTD patients. Degenerative changes included dry eye (32% TTD, 57% XP/TTD) and ocular surface disease identified by ocular surface staining with fluorescein (32% TTD) that usually are exhibited by much older patients in the general population. The 2 oldest TTD patients exhibited clinical signs of retinal/macular degeneration. Four XP/TTD patients presented with corneal neovascularization.
These TTD and XP/TTD study participants had a wide variety of ocular findings including refractive error, infantile cataracts, microcornea, nystagmus, and dry eye/ocular surface disease. Although many of these can be ascribed to abnormal development--likely owing to abnormalities in basal transcription of critical genes--patients may also have a degenerative course.
FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosures may be found after the references.
毛发硫营养不良症（TTD）是一种罕见的常染色体隐性遗传疾病，其特征为含硫量低的脆性毛发和多系统异常。许多 TTD 患者的已知 DNA 修复基因存在缺陷。本报告系统评估了迄今为止最大规模的 TTD 患者和着色性干皮病（XP）/TTD 患者队列的眼部表现。
病例系列。
32 名参与者，年龄 1 至 30 岁，于 2001 年至 2010 年被国家眼科研究所推荐进行检查；其中 25 名患有 TTD，7 名患有 XP/TTD。
全面、适合年龄和发育阶段的眼科检查。
视力（VA）、最佳矫正视力（BCVA）、眼球运动、眼表和角膜内皮细胞密度、角膜直径和晶状体评估。
发育异常包括小角膜（44% TTD）、小眼球（8% TTD，14% XP/TTD）、眼球震颤（40% TTD）和婴儿型白内障（56% TTD，86% XP/TTD）。65%的参与者需要矫正镜片，28%的 TTD 患者和 71%的 XP/TTD 患者存在最佳矫正视力下降。退行性变化包括干眼症（32% TTD，57% XP/TTD）和眼部表面疾病（32% TTD 存在用荧光素染色检测到的眼表染色），这些通常在一般人群中年龄较大的患者中出现。2 名最年长的 TTD 患者表现出视网膜/黄斑变性的临床征象。4 名 XP/TTD 患者出现角膜新生血管。
这些 TTD 和 XP/TTD 研究参与者有各种各样的眼部发现，包括屈光不正、婴儿型白内障、小角膜、眼球震颤和干眼症/眼表疾病。尽管其中许多可归因于异常发育——可能是由于关键基因的基础转录异常——但患者也可能有退行性病程。
