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March 25, 2026Journal of Clinical MedicineOpen Access

The Genetic Landscape of Paediatric Cataract in Saudi Arabia: A Two-Decade Cohort with Novel Variants, Genotype–Phenotype Correlations, and Bioinformatic Analysis

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Authors

MAMashael Mohammed AlsugairFAFay M. AlsuhaymHAHitham Aldharee

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Overview

A retrospective cohort study investigates genetic factors of paediatric cataract in Saudi Arabia, suggesting a need for early genetic testing.

Key Points

  • This study aims to explore the genetic spectrum and inheritance patterns of paediatric cataracts in Saudi Arabia, emphasizing genotype–phenotype correlations.
  • Conducted a retrospective cohort study from 2000 to 2019.
  • Collected clinical, ocular, and systemic data from two major referral centres.
  • Performed genetic analysis using whole-exome and whole-genome sequencing.
  • Utilized bioinformatic tools and AI for variant interpretation.
  • Analyzed genotype–phenotype relationships.
  • Identified 28 cases of genetically confirmed paediatric cataracts.
  • Found pathogenic variants in 13 genes, with autosomal recessive inheritance predominating.
  • Discovered two novel variants in COL18A1 and RAB3GAP2 genes.
  • Noted significant phenotypic variability among patients with the same mutation.
  • Syndromic cataracts were associated more frequently with loss-of-function variants and multisystem features.

Cite This Study

Alsugair et al. (2026) studied this question.

synapsesocial.com/papers/69c37afeb34aaaeb1a67d11bhttps://doi.org/10.3390/jcm15062420
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Genetics of bilateral pediatric cataract in the Israeli and Palestinian populations2024 · 3 citations
  2. 2Genetic Risk Factors and Clinical Implications of Glaucoma in the Saudi Population: A Review2026
  3. 3Candidate Genes for Non-Syndromic Pediatric Cataracts2026
  4. 4Genetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia2025 · 3 citations
  5. 5Identification of 4 Novel Variants in 19 Families with Congenital Cataracts2024