RP1L1 and microphthalmia: Detected variants in MFRP and RP1L1 allowed us not only to clarify the clinical diagnosis of Families 17 and 40, but to establish new genotype–phenotype correlations by associating the posterior microphthalmos, pigmentary retinopathy syndrome with foveoschisis without optic nerve drusen [50] and fundus flavimaculatus with MFRP and RP1L1 mutations, respectively.