Nationally Commissioned Xeroderma Pigmentosum Service, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom; Department of Ophthalmology, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.
Nationally Commissioned Xeroderma Pigmentosum Service, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom; King's College London, Kings Health Partners, Division of Genetics and Molecular Medicine, St John's Institute of Dermatology, Guy's Hospital, London, United Kingdom.
Ophthalmology. 2017 Nov;124(11):1652-1661. doi: 10.1016/j.ophtha.2017.04.031. Epub 2017 May 26.
To document the ocular manifestations of xeroderma pigmentosum (XP), presenting via the United Kingdom (UK) XP service, and to analyze the correlations between XP genotype and ophthalmic phenotype.
Prospective observational case series.
Eighty-nine patients seen by the UK Nationally Commissioned XP Service, from April 2010 to December 2014, with a genetically confirmed diagnosis of XP.
Patients underwent a full ophthalmic examination at each visit. Clinical features from both eyes were recorded on a standard proforma. The most recent assessments were analyzed. A 2-tailed Fisher exact test was used to assess for differences in ocular features between patients in XP subgroups with impaired transcription coupled nucleotide excision repair (TC-NER) (category 1: XP-A, B, D, F, and G) and preserved TC-NER (category 2: XP-C, E, and V).
Lid and periocular abnormalities, ocular surface pathologies, neuro-ophthalmologic abnormalities, lens and retinal abnormalities, and visual acuity (VA).
Ninety-three percent of XP patients in our cohort had ocular involvement, with 65% describing photophobia. The most common abnormalities were in the periocular skin and ocular surface, including interpalpebral conjunctival melanosis (44%) and conjunctival injection (43%). Eleven percent of patients had required treatment for periocular cancers and 2% for ocular surface cancers. The most common neuro-ophthalmologic finding was minimal pupillary reaction to light (25%). Patients in category 2 had significantly more ocular surface abnormalities than patients in category 1, including a greater proportion of conjunctival injection (P = 0.003), conjunctival corkscrew vessels (P < 0.001), corneal scarring (P = 0.01) and pingueculae under the age of 50 (P = 0.02). Meanwhile, patients in category 1 had a higher proportion of poorly reactive pupils (P < 0.001) and abnormal ocular movements (P = 0.03) compared with those in category 2. Five patients (6%) presented to ophthalmologists with ocular surface signs related to XP, before any formal diagnosis of XP was made.
A large proportion of XP patients have ocular involvement. Regular examination by an ophthalmologist is essential, especially in screening for eyelid and ocular surface tumors. The ocular phenotype-genotype segregation within XP patients suggests that XP is a heterogeneous and complex disease. With further study, we hope to offer these patients more individualized patient care.
通过英国 XP 服务，记录 Xeroderma Pigmentosum（XP）的眼部表现，并分析 XP 基因型与眼部表型之间的相关性。
前瞻性观察性病例系列。
2010 年 4 月至 2014 年 12 月，英国国家委托 XP 服务共观察了 89 例经基因证实的 XP 患者。
每位患者在每次就诊时均接受全面的眼科检查。在标准表格上记录双眼的临床特征。分析最近的评估结果。使用双尾 Fisher 确切检验评估有缺陷转录偶联核苷酸切除修复（TC-NER）（第 1 组：XP-A、B、D、F 和 G）和保留 TC-NER（第 2 组：XP-C、E 和 V）的 XP 亚组患者的眼部特征是否存在差异。
眼睑和眶周异常、眼表病变、神经眼科异常、晶状体和视网膜异常以及视力（VA）。
我们队列中的 93%的 XP 患者存在眼部受累，65%的患者描述畏光。最常见的异常是眶周皮肤和眼表，包括睑裂间结膜黑色素沉着（44%）和结膜充血（43%）。11%的患者需要治疗眶周癌，2%的患者需要治疗眼表癌。最常见的神经眼科发现是对光最小的瞳孔反应（25%）。第 2 组患者的眼表异常明显多于第 1 组，包括更多的结膜充血（P=0.003）、结膜螺旋血管（P<0.001）、角膜瘢痕（P=0.01）和 50 岁以下的翼状胬肉（P=0.02）。同时，第 1 组患者瞳孔反应不良的比例较高（P<0.001），眼球运动异常的比例也高于第 2 组（P=0.03）。5 名（6%）患者在正式诊断 XP 之前，因与 XP 相关的眼表体征就诊眼科医生。
很大一部分 XP 患者有眼部受累。眼科医生的定期检查至关重要，尤其是在筛查眼睑和眼表肿瘤方面。XP 患者的眼部表型-基因型分离表明 XP 是一种异质性和复杂的疾病。随着进一步的研究，我们希望为这些患者提供更多的个体化治疗。
