Advanced molecular approaches pave the road to a clear-cut diagnosis of hereditary retinal dystrophies.

Purpose: The aim of this study was to identify the molecular genetic basis of hereditary retinal dystrophies (HRDs) in five unrelated Iranian families.

Methods: Whole exome sequencing and Sanger sequencing were performed in all families. Variants were analyzed using various bioinformatics databases and software.

Results: Based on the selected strategies, we identified potentially causative variants in five families with HRDs: the novel homozygous deletion mutation c.586_589delTTTG (p.F196Sfs*56) in the gene of family A, the novel homozygous missense mutation c.2389T>C (p.S797P) in the gene in family B, the novel homozygous frameshift mutation c.2707dupA (p.S903Kfs*66) in the gene in family C, the novel homozygous splice mutation c.584-1G>T in the gene in family D, and the novel homozygous missense mutation c.1819G>C (p.G607R) rs61749412 in the gene of family E.

Conclusions: This study highlights the presence of five novel variants associated with retinal dystrophies in selected Iranian families with hereditary blindness.