Al-Muhsen Saleh, Al-Hemidan Amal, Al-Shehri Amer, Al-Harbi Abdullah, Al-Ghonaium Abdulaziz, Al-Saud Bandar, Al-Mousa Hamoud, Al-Dhekri Hasan, Arnaout Rand, Al-Mohsen Ibrahim, Alsmadi Osama
Department of Pediatrics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
J AAPOS. 2009 Aug;13(4):396-9. doi: 10.1016/j.jaapos.2009.05.011.
Chronic granulomatous disease (CGD) is a primary immunodeficiency disease caused by a genetic defect in the NADPH oxidase complex of phagocytic cells. Recent reports indicate that chorioretinal lesions are more common than previously suspected. In this study, ocular findings of CGD patients are described with particular emphasis on chorioretinal lesions as a potentially serious ocular complication of CGD.
Medical records of CGD patients attending an immunodeficiency clinic at a tertiary care center from January 2004 to December 2006 were reviewed. Patients underwent full ophthalmologic examination. Patients with chorioretinal lesions were investigated for various causes of chorioretinitis. Molecular studies for common CGD-causing genes were performed in patients with chorioretinal lesions.
This cohort included 32 CGD patients: 14 (44%) had abnormal eye findings, 11 (34%) had anterior segment disease, and 4 (12.5%) had chorioretinal lesions. Posterior segment findings consisted of uniformly similar hypopigmented atrophic punched-out chorioretinal scars around the arcades and mid-equator sparing of the macula. One patient had exudative hemorrhagic total retinal detachment in the right eye. Two siblings with chorioretinal lesions had mutation in CYBB, an X-linked gene. Another patient carried a missense mutation in NCF2, causing autosomal-recessive disease.
While ocular manifestation is common in CGD, chorioretinal lesions seem less frequent. However, they present potential risk of visual loss; it is recommended that patients undergo regular ophthalmologic examinations. This report provides further evidence that chorioretinal lesions occur not only in X-linked, but they can also occur in the autosomal-recessive form of CGD.
慢性肉芽肿病（CGD）是一种原发性免疫缺陷病，由吞噬细胞的NADPH氧化酶复合体中的基因缺陷引起。最近的报告表明，脉络膜视网膜病变比以前怀疑的更为常见。在本研究中，描述了CGD患者的眼部表现，特别强调脉络膜视网膜病变是CGD潜在的严重眼部并发症。
回顾了2004年1月至2006年12月在一家三级医疗中心免疫缺陷门诊就诊的CGD患者的病历。患者接受了全面的眼科检查。对患有脉络膜视网膜病变的患者调查了脉络膜视网膜炎的各种病因。对患有脉络膜视网膜病变的患者进行了常见CGD致病基因的分子研究。
该队列包括32例CGD患者：14例（44%）有异常眼部表现，11例（34%）有眼前段疾病，4例（12.5%）有脉络膜视网膜病变。后段表现为在视网膜血管弓和中纬线周围有均匀相似的色素减退性萎缩性圆形脉络膜视网膜瘢痕，黄斑区未受累。1例患者右眼发生渗出性出血性全视网膜脱离。两名患有脉络膜视网膜病变的兄弟姐妹在X连锁基因CYBB中有突变。另一名患者在NCF2中携带错义突变，导致常染色体隐性疾病。
虽然眼部表现在CGD中很常见，但脉络膜视网膜病变似乎较少见。然而，它们存在视力丧失的潜在风险；建议患者定期进行眼科检查。本报告进一步证明脉络膜视网膜病变不仅发生在X连锁型CGD中，也可发生在常染色体隐性型CGD中。
