BMC Ophthalmology · 3 authors, 1 centre
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This systematic review analyzed genetic findings in Pakistani families with inherited retinal dystrophies (IRDs) from 1999 to 2023. The central result was the identification of 277 unique genetic variants, with over 95% being recessively inherited, likely driven by high consanguinity rates.
This study is a systematic review that retrospectively analyzed 126 published research articles reporting on IRDs in Pakistani families from 1999 to April 2023. The authors extracted and validated genetic and clinical data. The results identified 277 unique sequence variants across 87 genes. Key findings include that approximately 88.81% of variants were homozygous, over 95% of cases showed recessive inheritance, and retinitis pigmentosa was the most common IRD. Mutations in the PDE6A gene were the leading cause. A major limitation is that causality of variants was not assessed by this review, and the data may be skewed by literature from only two provinces. The implications highlight the distinct genetic architecture of IRDs in Pakistan due to consanguinity.
