A novel c.1937T>C (p.Leu646Pro) missense mutation in a patient with Leber congenital amaurosis

Over 21 genes have been associated with the inherited retinal dystrophy, Leber congenital amaurosis (LCA). A comprehensive genotype-phenotype correlation in such heterogenous cases helps guide further genetic studies and therapies. We report 2 children (10-month-old girl and an 8-month-old boy) who presented with low vision in the first year of life. Both patients manifested nystagmus, sluggish pupillary reactions, hyperopia, and normal fundus. Focussed exome sequencing was performed because LCA was suspected. A novel c.1937T>C (p.Leu646Pro) missense mutation was found in exon 9 of the tyrosine kinase domain of the GUCY2D gene in both patients.

Automated summary

In this study, we report two children with Leber congenital amaurosis (LCA), a form of inherited retinal dystrophy. Both patients were found to carry a novel missense mutation in exon 9 of the GUCY2D gene. This finding contributes to the understanding of the genetic basis of LCA and may guide future research and therapy.