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Retrospective case series identifies pathogenic variants affecting foveal hypoplasia in high myopia siblings, indicating diagnostic considerations.
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.
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