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Ophthalmic Genet2026;1-4.September 3, 2026Journal Article

A novel ZEB1 splice-site variant causing early-onset type 3 posterior polymorphous corneal dystrophy and suspected corneal ectasia.

Nisha Rani1, Srikanta Kumar Padhy2, Sohini Mandal1
1Cornea & Anterior Segment Service, Shantilal Shanghvi Cornea Institute, L V Prasad Eye Institute, Bhubaneswar, India.
2Vitreretina Services, Anant Bajaj Retina Institute, L V Prasad Eye Institute, Bhubaneswar, India.
PubMed DOI

Abstract

Posterior polymorphous corneal dystrophy type 3 (PPCD3) is an autosomal dominant endothelial dystrophy caused by variations in the ZEB1 gene. We report a pediatric case presenting with progressive visual impairment associated with simultaneous features of corneal ectasia and endothelial dystrophy. A 9-year-old boy presented with progressive diminution of vision and high myopia. Slit-lamp examinati…

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