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Long-term clinical prognosis of 335 infant single-gene positive FEVR cases

Chunli Chen1,2,3, Yizhe Cheng1,2, Zhihan Zhang1,2

  • 1Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China.

BMC Ophthalmology
|August 2, 2022
PubMed

Insights

Familial exudative vitreoretinopathy (FEVR) prognosis varies by gene mutation. Early intervention and lens-sparing surgery improve outcomes in severe FEVR cases, though some may require repeat procedures.

Area of Science:

  • Ophthalmology
  • Genetics
  • Pediatric Medicine

Background:

  • Familial exudative vitreoretinopathy (FEVR) is a genetic disorder affecting retinal vascular development.
  • Understanding the genotype-phenotype correlation is crucial for predicting FEVR prognosis.
  • Long-term clinical outcomes in infants with single-gene FEVR mutations require detailed analysis.

Purpose of the Study:

  • To analyze the clinical prognosis of infants diagnosed with familial exudative vitreoretinopathy (FEVR) and single-gene mutations.
  • To correlate specific gene mutations with FEVR severity and treatment response.
  • To evaluate long-term visual outcomes and surgical interventions in FEVR patients.

Main Methods:

  • Retrospective case study of 355 infants with single-gene positive FEVR.
  • Genotyping to identify specific mutations.
  • Clinical assessment, staging, and long-term follow-up including visual acuity and surgical outcomes.

Main Results:

  • 20% of infants presented with strabismus. Significant differences in clinical phenotypes were observed across genotypes (P < 0.001), with NDP mutations showing the most severe and ZNF408 the mildest phenotypes.
  • Stage 4-5 FEVR cases underwent vitrectomy (lensectomy or lens-sparing vitrectomy), with 78.58% maintaining transparent lenses after LSV.
  • Long-term follow-up (2-10 years) revealed retinal unfolding in 37.96% of post-surgery cases, with 69.57% achieving good prognosis after secondary surgery. Overall, 20% had vision >20/200.

Conclusions:

  • LRP5 gene mutations were most common; phenotype severity correlated with specific gene mutations.
  • Transcorneal vitrectomy with lensectomy or LSV are primary surgical options for Stage 4-5 FEVR.
  • Earlier FEVR onset indicates a worse prognosis, underscoring the need for active surgical intervention and lens preservation in advanced stages.
Abstract

Keywords:
Clinical featuresFEVRGenePrognosisRelation between phenotypes and genotypes

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