Ophthalmic features of CHARGE syndrome with CHD7 mutations
Ophthalmic features of CHARGE syndrome with CHD7 mutations
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DOI：
10.1002/ajmg.a.34400
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发表时间：
2012-03-01
影响因子：
2
通讯作者：
Kosaki, Kenjiro
中科院分区：
文献类型：
--
作者：
Nishina, Sachiko;Kosaki, Rika;Kosaki, Kenjiro
尽管视力障碍的严重程度因病例而异，但 CHARGE 综合征中已描述了缺损和各种眼部异常。我们进行了一项多中心研究，以阐明分子证实的 CHARGE 综合征患者的眼科特征。对在四个中心接受治疗的 19 名 CHARGE 综合征患者和确诊的 CHD7 突变患者的 38 只眼睛进行了回顾性研究。 Colobomata 影响了 18 名患者 35 只眼睛的后段。双侧视网膜脉络膜和视盘缺损15例，单侧缺损3例。 13名患者的21只眼的缺损全部或部分累及黄斑部。我们证实，在已确诊的 CHD7 突变患者中，双侧大视网膜脉络膜缺损代表了 CHARGE 综合征的典型眼科特征；然而，即使眼睛的缺损较大，也可能形成黄斑。根据缺损、黄斑缺损和小眼球的存在情况对眼睛缺陷的解剖学严重程度进行分级。对一只眼睛与另一只眼睛的严重程度进行比较，发现两只眼睛之间存在低至中度的一致性，反映了 CHARGE 综合征患者的普遍面部不对称性。蛋白质截断的位置和眼睛的解剖严重程度显着相关。我们认为，视网膜形态和功能的早期诊断可能对患者有益，因为这种关注可能会决定弱视治疗（例如光学矫正和修补）是否能有效促进视觉潜力，或者是否需要对视力不佳进行护理。 (c) 2012 年 Wiley 期刊公司。
Coloboma and various ocular abnormalities have been described in CHARGE syndrome, although the severity of visual impairment varies from case to case. We conducted a multicenter study to clarify the ophthalmic features of patients with molecularly confirmed CHARGE syndrome. Thirty-eight eyes in 19 patients with CHARGE syndrome and confirmed CHD7 mutations treated at four centers were retrospectively studied. Colobomata affected the posterior segment of 35 eyes in 18 patients. Both retinochoroidal and optic disk colobomata were bilaterally observed in 15 patients and unilaterally observed in 3 patients. The coloboma involved the macula totally or partially in 21 eyes of 13 patients. We confirmed that bilateral large retinochoroidal colobomata represents a typical ophthalmic feature of CHARGE syndrome in patients with confirmed CHD7 mutations; however, even eyes with large colobomata can form maculas. The anatomical severity of the eye defect was graded according to the presence of colobomata, macula defect, and microphthalmos. A comparison of the severity in one eye with that in the other eye revealed a low-to-moderate degree of agreement between the two eyes, reflecting the general facial asymmetry of patients with CHARGE syndrome. The location of protein truncation and the anatomical severity of the eyes were significantly correlated. We suggested that the early diagnosis of retinal morphology and function may be beneficial to patients, since such attention may determine whether treatment for amblyopia, such as optical correction and patching, will be effective in facilitating the visual potential or whether care for poor vision will be needed. (c) 2012 Wiley Periodicals, Inc.