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Autosomal recessive nanophthalmos has been linked to a homozygous CRB1 variant in a single Turkish family presenting with severe hyperopia (>+8.0 D), reduced axial length (18–19 mm), retinal dystrophy, macular edema, and optic disc drusen. Genome-wide homozygosity mapping identified a 28-Mb region encompassing CRB1, and direct sequencing revealed a novel homozygous c.2498G>A (p.Gly833Asp) variant segregating with disease in two affected siblings (PMID:23077403).
Evidence Strength: Limited genetic evidence supports CRB1 involvement in nanophthalmos, based on a single family (two probands) with congruent clinical and genetic findings. No functional assays directly demonstrate a pathogenic role of CRB1 variants in ocular axial growth or refractive development.
Key Take-home: While CRB1 mutations are well-established in retinal dystrophies, this report expands its phenotypic spectrum to include syndromic nanophthalmos, warranting inclusion of CRB1 in genetic testing panels for nanophthalmos.
Gene–Disease AssociationLimitedSingle family report with two probands and no additional segregation Genetic EvidenceLimitedOne homozygous CRB1 variant in two affected siblings; no replication Functional EvidenceLimitedLack of functional studies directly linking CRB1 variants to nanophthalmos phenotype |