Goldblatt D, Butcher J, Thrasher A J, Russell-Eggitt I
Immunobiology Unit and Molecular Immunology Units, Institute of Child Health, The Great Ormond Street Children's Hospital, London, United Kingdom.
J Pediatr. 1999 Jun;134(6):780-3. doi: 10.1016/s0022-3476(99)70299-4.
To investigate the frequency of retinal lesions in patients with chronic granulomatous disease (CGD) and to seek such lesions in carriers.
Seventy-four individuals from 33 families were recruited; 38 had CGD (30 X-linked and 8 autosomal recessive inheritance). All participants (including 33 control subjects) underwent measurement of visual acuity, anterior segment examination by slit lamp, and dilated funduscopy.
Nine of 38 (23.7%) of the affected children had chorioretinal lesions compared with 0 of 33 control subjects. All 9 were known to have X-linked CGD and absent gp91(phox). The "typical" retinal abnormality consisted of "punched out" chorioretinal lesions associated with pigment clumping lying along major retinal vessels. Unexpectedly, 3 XL-CGD asymptomatic carriers also had typical chorioretinal lesions.
Retinal lesions are relatively common in patients with XL-CGD and may interfere with vision and thus should be sought in such patients.
研究慢性肉芽肿病（CGD）患者视网膜病变的发生率，并在携带者中寻找此类病变。
招募了来自33个家庭的74名个体；38例患有CGD（30例X连锁遗传和8例常染色体隐性遗传）。所有参与者（包括33名对照受试者）均接受了视力测量、裂隙灯眼前节检查和散瞳眼底检查。
38名患病儿童中有9名（23.7%）患有脉络膜视网膜病变，而33名对照受试者中无一例患病。已知所有9例均患有X连锁CGD且缺乏gp91（phox）。“典型”的视网膜异常表现为沿主要视网膜血管分布的与色素团块相关的“凿孔状”脉络膜视网膜病变。出乎意料的是，3名X连锁CGD无症状携带者也有典型的脉络膜视网膜病变。
视网膜病变在X连锁CGD患者中相对常见，可能会影响视力，因此应在这类患者中进行检查。
