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Updated: Jun 14, 2025

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Congenital retinal folds.

Lydia Zhong1, Alisha Dhallan1, Gregg T Lueder1

  • 1Department of Ophthalmology and Visual Sciences and Pediatrics, Washington University School of Medicine, St. Louis, Missouri.

Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|January 30, 2025
PubMed
Summary
This summary is machine-generated.

Congenital retinal folds (CRFs) are rare, with genetic testing revealing mutations linked to familial exudative vitreoretinopathy (FEVR) and other unclear genes. Close monitoring for complications like retinal detachment is crucial.

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Area of Science:

  • Ophthalmology
  • Genetics

Background:

  • Congenital retinal folds (CRFs) represent a rare ocular condition with poorly understood origins.
  • CRFs are frequently observed alongside other eye conditions, notably familial exudative vitreoretinopathy (FEVR).

Observation:

  • A series of five patients with unilateral CRFs underwent comprehensive genetic analysis.
  • Four out of five patients exhibited identifiable genetic mutations.

Findings:

  • Mutations in FZD4 and TSPAN12, known FEVR-associated genes, were detected.
  • Mutations in IMPDH1 and PEX1 were identified, though their specific roles in CRF pathogenesis remain undetermined.
  • Associated conditions included strabismus in four patients, necessitating surgical correction.
  • Two patients experienced tractional retinal detachments requiring vitrectomy.
  • Visual outcomes were generally poor, with visual acuity ranging from 20/600 to no light perception.

Implications:

  • Genetic testing is vital for congenital retinal folds (CRFs) to assess familial risk and guide management.
  • The genetic underpinnings of CRFs are complex and not fully elucidated.
  • Patients with CRFs require vigilant monitoring for potential complications, including retinal detachment.