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

Am J Ophthalmol. 2020 Oct:218:330-336. doi: 10.1016/j.ajo.2020.02.015. Epub 2020 Feb 27.

Abstract

Purpose: The purpose of this study was to investigate the etiology and clinical features of nontraumatic rhegmatogenous retinal detachment (RRD) in children.

Design: Consecutive, cross-sectional study.

Methods: 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.

Results: 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%).

Conclusions: 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Arthritis / complications
  • Child
  • Child, Preschool
  • Congenital Abnormalities / etiology*
  • Connective Tissue Diseases / complications
  • Cross-Sectional Studies
  • Developmental Disabilities / complications*
  • Exome Sequencing
  • Familial Exudative Vitreoretinopathies / complications*
  • Female
  • Genetic Testing
  • Hearing Loss, Sensorineural / complications
  • Humans
  • Infant
  • Male
  • Marfan Syndrome / complications
  • Myopia / complications
  • Retinal Detachment / complications
  • Retinal Detachment / diagnosis*
  • Retinal Detachment / etiology*
  • Risk Factors

Supplementary concepts

  • Stickler syndrome, type 1