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LTBP2 variants in childhood glaucoma: Phenotypic expansion and clinical experience

Anshuman Verma1, Arif O Khan2,3, Venkatesh Pochaboina1

  • 1Institute of Rare Eye Diseases and Ocular Genetics, LV Prasad Eye Institute, Hyderabad, India.

Molecular Vision
|May 19, 2025
PubMed

Insights

This study identifies a wider range of eye conditions linked to latent transforming growth factor-β-binding protein 2 (LTBP2) gene variants in children with glaucoma. Early surgery and prompt treatment of retinal issues are key for managing LTBP2-related pediatric glaucoma.

Area of Science:

  • Ophthalmology
  • Genetics
  • Pediatric Medicine

Background:

  • Childhood glaucoma is a severe condition with various underlying causes.
  • Latent transforming growth factor-β-binding protein 2 (LTBP2) gene mutations have been associated with certain ocular abnormalities.
  • Understanding the full spectrum of LTBP2-related phenotypes is crucial for accurate diagnosis and management in pediatric glaucoma.

Purpose of the Study:

  • To describe the spectrum of ocular phenotypes associated with LTBP2 gene variants in Indian children diagnosed with glaucoma.
  • To present genetic evidence supporting the link between LTBP2 variants and specific ocular findings.
  • To highlight clinical experiences and management strategies for pediatric glaucoma cases with LTBP2-related phenotypes.

Main Methods:

  • Whole-exome sequencing was performed on 189 children with childhood glaucoma.
  • Eighteen children with confirmed LTBP2 variants and related phenotypes were included for detailed analysis.
  • Clinical data, genetic variants (confirmed by Sanger sequencing), and management outcomes were reviewed.

Main Results:

  • All 18 children presented with megalocornea, iridodonesis, and ectopia lentis.
  • Pupillary abnormalities, including persistent pupillary membrane and ectropion uveae, were common.
  • Secondary glaucoma occurred in 72% of eyes, with older age at lensectomy increasing risk; retinal pathology was noted in 47%.

Conclusions:

  • The study expands the known phenotype spectrum of LTBP2-related disorders in pediatric glaucoma, including novel features like persistent pupillary membrane and ectropion uveae.
  • Nonsense LTBP2 variants were strongly associated with these ocular manifestations.
  • Early lensectomy and timely management of retinal pathology are vital to prevent secondary glaucoma and sight-threatening complications.
Abstract

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