Genotype–phenotype spectrum in isolated and syndromic nanophthalmos

To describe a series of patients with isolated or syndromic nanophthalmos with the underlying genetic causes, including novel pathogenic variants and their functional characterization and to study the association of retinal dystrophy in patients with MFRP variants, based on a detailed literature review of genotype phenotype correlations. Novel pathogenic variants in MFRP (c. 1180G>A), and PRSS56 , and a recurrent de novo variant in FAM111A in a patient with Kenny Caffey syndrome type 2, were identified. Nanophthalmos is a genetically heterogeneous condition, and the severity of ocular manifestations appears not to correlate with variants in a specific gene...