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Peters anomaly MeSH Supplementary Concept Data 2025
A hereditary, autosomal recessive eye abnormality consisting of central corneal LEUKOMA, absence of the posterior CORNEAL STROMA and DESCEMET MEMBRANE, and a variable degree of IRIS and lenticular attachments to the central aspect of the posterior CORNEA. It occurs as an isolated ocular abnormality or in association with other ocular defects; such as Krause-Kivlin syndrome (OMIM: 261540). Mutations in the CYP1B!, PITX2, and PAX6 genes have been identified. OMIM: 604229