<i>LOXL3</i> -related foveal hypoplasia in siblings

PURPOSE: as a candidate gene for this phenotype. METHOD: Retrospective case series. RESULTS: variant was consistent with pseudohypoparathyroidism. The boy had been previously diagnosed with this by an endocrinologist, and phenotypic reassessment confirmed the same diagnosis in his sister. CONCLUSIONS: pathogenic variants should be considered in the differential diagnosis of foveal hypoplasia with high myopia.