MFRP and Retinal dystrophy: Two variants were identified within genes known to be implicated in retinal degeneration, one each in RP1L1 and MFRP. The c.3978_3979insGAA (p.Lys1326_Thr1327insGlu) variant in RP1L1 (NM_178857.5) identified as heterozygous in all three individuals has not been previously observed in the general population or in individuals with retinal dystrophy.