Novel compound heterozygous variants in SIX6 cause a PAX2 like Dysplastic Optic Disc with macular abnormalities without coexistent microphthalmia or cataract.

Abstract excerpt

BACKGROUND: Congenital optic disc dysplasia with coexistent macular abnormalities is seen in Morning-glory disc anomaly, optic disc pit, PAX6-related disc coloboma, and in the PAX2-related Papillo-renal syndrome. We report novel compound heterozygous variants in SIX6 causing optic disc dysplasia and macular abnormality without coexisting cataract or microphthalmia for the first time in Chinese ethnicity and also...

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