Systemic and Ophthalmic Anomalies in Congenital Anophthalmic or Microphthalmic Patients
Systemic and Ophthalmic Anomalies in Congenital Anophthalmic or Microphthalmic Patients
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DOI：
10.1007/978-3-540-85542-2_7
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发表时间：
2010-01-01
期刊：
影响因子：
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通讯作者：
Guthoff, Rudolf F.
中科院分区：
文献类型：
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作者：
Schittkowski, Michael P.;Guthoff, Rudolf F.
先天性临床无眼球和盲眼小眼球是极其罕见的疾病，患病率为 1-20/100,000 名新生儿。男性和女性之间的疾病分布大致相等。单侧无眼球的发生率几乎是双侧无眼球的两倍。小眼症是患者就诊的最不常见的原因。除了一个例外，家族史并未出现这种情况。怀孕过程本身通常没有异常。血缘关系和病理性染色体异常指向遗传因素的可能作用，这越来越成为研究的焦点。正如预期的那样，产科分娩并不是临床状况的决定因素。对每个病例的综合评估需要进行彻底的眼科检查，辅以经验丰富的儿科医生的评估。无眼球患者（50%）的相关全身检查结果比小眼球患者（17.6%）更多。单侧和双侧无眼球的发育异常发生率没有差异。通常，病理学特征为 Goldenhar 综合征和裂隙。通常需要磁共振成像 (MRI) 来检测发育性脑异常。约 75% 的受影响儿童存在鼻泪管病理学。最常见的发现是泪小管狭窄。25% 的单侧小眼球患者和 50% 的单侧无眼球患者对侧眼有异常，主要表现为缺损、皮样瘤、巩膜角膜和青光眼。由于单眼存在这种病理，单侧小眼球患者中有 2 名（12.5%），单侧无眼球患者中有 13 名（34.2%）。单侧无眼的患者以及所有 20 名双侧无眼的患者均被归类为法定失明。因此，小眼球的总体失明率为 17.6%，无眼的总体失明率为 3.4 倍（56.9%）。
Congenital clinical anophthalmos and blind microphthalmos are extremely rare conditions, with a prevalence rate of 1–20/100,000 newborns.Distribution of the conditions is approximately equal between males and females.Unilateral anophthalmos is encountered almost twice as frequently as bilateral anophthalmos. Microphthalmos is the least-common reason why patients present for surgery.With a single exception, the family histories were not positive for the conditions.The course of pregnancy itself was routinely unexceptional. Consanguinity and pathological chromosomal abnormalities point to the possible role of genetic factors, which are increasingly becoming the focus for research.As expected, obstetric delivery was not a determinant of the clinical condition.Comprehensive evaluation of each case requires a thorough ophthalmological examination supplemented by assessment by an experienced pediatrician.Associated systemic findings were more numerous in patients with anophthalmos (50%) than in those with microphthalmos (17.6%). There was no difference in the rate of developmental anomalies in unilateral and bilateral anophthalmos. Typically, the pathology is characterized by Goldenhar syndrome and clefting.Magnetic resonance imaging (MRI) is generally necessary to detect developmental cerebral anomalies.Nasolacrimal duct pathology was present in about 75% of the affected children. Canalicular stenoses were the most common finding.Twenty-five percent of patients with unilateral microphthalmos and 50% of patients with unilateral anophthalmos had anomalies in the fellow eye, chiefly in the form of coloboma, dermoid, sclerocornea, and glaucoma.On account of this pathology in a single eye, 2 (12.5%) of the patients with unilateral microphthalmos and 13 (34.2%) of the patients with unilateral anophthalmos, as well as all 20 patients with bilateral anophthalmos, were classified as legally blind.Therefore, the overall blindness rate was 17.6% in microphthalmos and 3.4 times higher (56.9%) in anophthalmos.