Department of Clinical Neuroscience, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Region Västra Götaland, Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.
Acta Ophthalmol. 2020 Dec;98(8):848-858. doi: 10.1111/aos.14427. Epub 2020 May 21.
Congenital anophthalmia (A) and microphthalmia (M) are rare developmental defects, which could be isolated or syndromic. Our objective was to describe a cohort of children and young adults with A/M treated with ocular prosthesis, emphasizing clinical features, diagnosis, treatment, and follow-up.
Eighteen individuals (10 female) with unilateral A (n = 3) and M (n = 15) with a mean age of 9.5 years (range 0.8-31.8) and treated with ocular prosthesis were included. Data on medical history, clinical examinations and management of ocular prosthesis were collected. Genetic screening with microarray and whole-exome sequencing targeting 121 A/M-related genes was performed.
A/M appeared isolated (seven cases) or as part of a syndromic condition (11 cases). In 4/16 patients, mutations were detected in TFAP2A, CHD7, FOXE3 and BCOR-genes. In one patient, a possibly causal microdeletion 10q11 was shown. Associated ocular anomalies such as cataract and cysts were found in 16 (89%) of the A/M eyes, and in nine (50%) ophthalmological findings were found in the fellow eyes. The median ages at which the conformer and ocular prosthesis first were initiated were 7.8 months and 1.5 years. 16/17 patients fulfilled satisfactory orbital growth and cosmetic results when treated with ocular prosthesis from an early age.
Based upon our findings, a multidisciplinary approach, including genetic assessment, is necessary to cover all aspects of A/M. Imaging, ultrasound and visual evoked potentials should be included. Early management is crucial for the outcome, in terms of non-ocular findings, vision in the fellow eye, and for facial cosmetic development.
先天性无眼症（A）和小眼症（M）是罕见的发育缺陷，可孤立存在或作为综合征的一部分。我们的目的是描述一组接受义眼治疗的 A/M 患儿和年轻患者，重点介绍临床特征、诊断、治疗和随访。
纳入了 18 名患有单侧 A（n=3）和 M（n=15）的个体（10 名女性），平均年龄为 9.5 岁（范围 0.8-31.8），并接受了义眼治疗。收集了病史、临床检查和义眼管理的数据。对 121 个 A/M 相关基因进行了微阵列和外显子组测序的基因筛查。
A/M 表现为孤立性（7 例）或作为综合征的一部分（11 例）。在 16 名患者中的 4 名中，检测到 TFAP2A、CHD7、FOXE3 和 BCOR 基因突变。在一名患者中，显示出可能的因果关系微缺失 10q11。在 16 名（89%）A/M 眼中发现了白内障和囊肿等相关眼部异常，在 9 名（50%）眼中发现了眼伴发异常。开始使用塑形镜和义眼的中位年龄分别为 7.8 个月和 1.5 岁。16/17 名患者在早期接受义眼治疗时，眼眶生长和美容效果均令人满意。
根据我们的发现，需要多学科方法，包括遗传评估，以涵盖 A/M 的所有方面。应包括影像学、超声和视觉诱发电位检查。早期管理对于非眼部发现、对侧眼视力和面部美容发育的结果至关重要。
