Novel Pathogenic Variants in and Genes in Three Patients with Similar Retinal Dystrophy Phenotypes.

INTRODUCTION

The intraflagellar transport (IFT) complex plays a key role in protein transport and turnover within photoreceptors. and gene mutations have been associated with skeletal ciliopathies that occur concurrently with retinal dystrophy. These mutations have also been associated with non-syndromic retinal dystrophies. This phenotypic heterogeneity can make diagnosis challenging. Here, we report novel variants in and genes in 3 patients with similar retinal dystrophy phenotypes.

CASE PRESENTATIONS

Two siblings (a 51-year-old male and 46-year-old male) who presented with a similar retinal dystrophy, skeletal abnormalities, and kidney disease were found to have the same novel variant in the gene, along with another, previously reported variant. An unrelated individual with a similar retinal phenotype was found to have a novel variant in the gene, although this was noted as a variant of uncertain significance. The patients underwent testing with the Blueprint Genetics (Blueprint Genetics Oy, Keilaranta 16 A-B, 02150 Espoo, Finland) "My Retina Tracker Program Panel Plus" panel.

CONCLUSION

Novel variants in the and genes encoding the IFT complex may contribute to similar retinal dystrophy phenotypes, as noted in our case series.