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Updated: Sep 30, 2025

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Inherited retinal dystrophies in a Kuwaiti tribe.

M G Pandova1, T Abduljalil2, A E Elshafey3

  • 1Ophthalmology Department, Kuwait Oil Company Hospital, Kuwait.

Ophthalmic Genetics
|March 11, 2022
PubMed
Summary

This study investigated inherited retinal diseases (IRDs) in a Kuwaiti tribe, identifying multiple genetic mutations causing varied phenotypes and disease progression in affected families.

Keywords:
Kuwaiti tribeRetinitis pigmentosaleber amaurosisrod-cone dystrophy

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Area of Science:

  • Ophthalmology and Genetics
  • Molecular Biology and Clinical Diagnosis
  • Population Genetics and Disease Spectrum

Background:

  • Inherited retinal diseases (IRDs) represent a diverse group of genetic disorders affecting vision.
  • High consanguinity rates in certain populations, like Middle Eastern tribes, can increase the prevalence of recessive genetic conditions.
  • Understanding the genetic and clinical spectrum of IRDs is crucial for diagnosis and potential therapeutic strategies.

Purpose of the Study:

  • To comprehensively evaluate the clinical manifestations and genetic underpinnings of inherited retinal diseases (IRDs) within a specific Kuwaiti tribal population.
  • To identify the spectrum of mutations responsible for IRDs in this cohort.
  • To correlate genotype with phenotype, observing variations in disease presentation and progression.

Main Methods:

  • Clinical evaluation of 44 patients from 28 nuclear families, including symptom assessment, visual acuity, fundus examination, OCT, and microperimetry.
  • Electrophysiological testing using full-field (ffERG) and multifocal electroretinography (mERG).
  • Genotyping to identify specific mutations associated with the observed IRD phenotypes.

Main Results:

  • Autosomal recessive retinitis pigmentosa (arRP) linked to the RP1 c.606C>A mutation was identified in 17 patients, presenting with nyctalopia and macular atrophy.
  • Eleven patients showed cone/rod or macular dystrophy due to RP1 c.606C>A (p.Asp202Glu), with vision deterioration in adolescence.
  • Eleven patients had arRP with the PDE6B c.992+1G>A mutation, showing early onset myopia and cataract; five had Leber congenital amaurosis with RPGRIP1 c.1107delA mutation.

Conclusions:

  • The studied Kuwaiti tribe exhibits a high prevalence of IRDs due to multiple mutated genes, characteristic of populations with long-standing consanguinity.
  • Identical mutations can lead to diverse phenotypes and variable disease progression, highlighting the complexity of IRDs.
  • The study underscores the importance of considering multiple gene involvement and clinical nuances in diagnosing and managing patients with pathogenic mutations.