Analysis of Etiologic Factors in Pediatric Rhegmatogenous Retinal Detachment With Genetic Testing

The purpose of this study was to investigate the etiology and clinical features of nontraumatic rhegmatogenous retinal detachment (RRD) in children. Consecutive, cross-sectional study. In this study, 112 operative eyes of 102 patients ≤18 years of age with nontraumatic RRD were included. Comprehensi...

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Bibliographic Details
Published in:American journal of ophthalmology 2020-10, Vol.218, p.330-336
Main Authors: Chen, Chonglin, Huang, Sijian, Sun, Limei, Li, Songshan, Huang, Li, Wang, Zhirong, Luo, Xiaoling, Ding, Xiaoyan
Format: Article
Language:English
Subjects:
Age
Cataracts
Congenital diseases
Disease
Etiology
Families & family life
Genetic testing
Marfan syndrome
Mutation
Patients
Pediatrics
Retina
Retinal detachment
Risk factors
Surgery
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Summary:The purpose of this study was to investigate the etiology and clinical features of nontraumatic rhegmatogenous retinal detachment (RRD) in children. Consecutive, cross-sectional study. In this study, 112 operative eyes of 102 patients ≤18 years of age with nontraumatic RRD were included. Comprehensive ophthalmic examinations were performed in all patients. Genetic testing was performed in 34 patients with hereditary congenital/developmental diseases. The etiology of RRD was analyzed. The average age was 12.2 ± 4.5 years (range, 1-18 years). The percentages of male and female patients were 74.5% (76/102) and 25.5% (26/102), respectively. The most common etiologic factors were congenital/developmental anomalies (51/102, 50%), followed by simple myopia (34/102, 33.3%) and previous intraocular surgery (6/102, 5.9%). More than half (31/51, 60.8%) of the patients with congenital/developmental anomalies had familial exudative vitreoretinopathy. Further analysis of the underlying etiologic factors based on age revealed that the most common etiology of RRD in patients ≤12 years of age was congenital/developmental anomalies (28/48, 58.3%); however, simple myopia was the major etiologic factor in patients >12 years of age (27/54, 50%). Congenital/developmental diseases were the most common etiologies of pediatric nontraumatic RRD in China. Familial exudative vitreoretinopathy accounted for most of the congenital/developmental anomalies.
ISSN:0002-9394
1879-1891
DOI:10.1016/j.ajo.2020.02.015