Phenotype-guided genetic testing of pediatric inherited retinal disease in the united arab emirates

Conclusion: Phenotype-guided genetic testing had a remarkable yield for this patient population. Recessive disease is often from homozygous mutations. Cone-dominated phenotypes are common. There are apparent founder mutations for several genes that could be used in a targeted genetic testing strategy. Molecular diagnosis is particularly important in affected children when inherited retinal dystrophy could be a sign of syndromic disease as proper earlier diagnosis minimizes potential extraocular morbidity.
Source: RETINA - Category: Opthalmology Tags: Original Study Source Type: research