Fahnehjelm Cecilia, Dafgård Kopp Eva, Wincent Josephine, Güven Evin, Nilsson Mattias, Olsson Monica, Teär Fahnehjelm Kristina
Department of Paediatrics, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden.
Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Ophthalmic Genet. 2022 Apr;43(2):172-183. doi: 10.1080/13816810.2021.1989600. Epub 2022 Feb 2.
To report ocular outcome, somatic co-morbidities, genetics, and quality of life in children born with anophthalmia (A) or microphthalmia (M).
Thirty-five children (19 boys) with A/M underwent ophthalmological examinations and a review of medical records. Parents of 12/22 cases completed the Pediatric Quality of Life Inventory (PedsQL).
Age at examination ranged from 7 months to 18 years (median 2.3 years). Ten cases were totally blind or had light perception. Isolated A/M occurred in 16/35 cases, while somatic, psychomotor, neuroradiological and/or genetic pathology occurred in 19/35 cases both in the bilateral (7/9) and in the unilateral group (12/26). Among 26 unilateral cases, 4/16 with one normal eye had associated problems compared to 9/10 if the contralateral eye was pathological ( < .01). There was an increased risk for heart defects in children with psychomotor delay ( = .04). Pathogenic genetic abnormalities were identified in 10/24 cases. Neuroimaging demonstrated pathology in 14/20 cases with corpus callosum dysgenesis (6/20) being the most common. The median total PedsQL score of parent reports for ages 2-12 was 52.4 (range 22.6-100).
Somatic, psychomotor and/or neuroradiological pathologies were more common in bila-teral than unilateral cases, but the difference was not significant. There was decreased risk in unilateral cases with one normal eye. Genetic defects occurred in both unilateral and bilateral cases. Health-related quality of life was reduced.
报告先天性无眼（A）或小眼症（M）患儿的眼部预后、躯体合并症、遗传学特征及生活质量。
对35例患有A/M的患儿（19例男孩）进行眼科检查并查阅病历。12/22例患儿的家长完成了儿童生活质量量表（PedsQL）。
检查时年龄范围为7个月至18岁（中位数2.3岁）。10例患儿完全失明或仅有光感。16/35例为单纯A/M，19/35例患儿存在躯体、精神运动、神经放射学和/或遗传学病变，双侧（7/9）和单侧组（12/26）均有。在26例单侧病例中，16例中4例单眼正常者存在相关问题，而对侧眼有病理性改变者中这一比例为9/10（P<0.01）。精神运动发育迟缓患儿患心脏缺陷的风险增加（P=0.04）。24例中有10例发现致病性基因异常。神经影像学检查显示20例中有14例存在病变，胼胝体发育不全最为常见（6/20）。2-12岁患儿家长报告的PedsQL总分中位数为52.4（范围22.6-100）。
双侧病例中躯体、精神运动和/或神经放射学病变比单侧病例更常见，但差异无统计学意义。单眼正常的单侧病例风险降低。单侧和双侧病例均存在基因缺陷。健康相关生活质量降低。
