ArticleFrontiers in medicine2026
Case Report: Acute keratoconus as the presenting feature in undiagnosed Norrie disease: hypothesis from a novel NDP mutation.
Article in Frontiers in medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Norrie disease is a rare X-linked recessive disorder characterized by congenital blindness, with approximately one-third of patients developing progressive sensorineural hearing loss and neurodevelopmental abnormalities. While over 200 pathogenic variants in the Case Presentation: We report a 33-year-old Chinese male who presented with acute hydrops of the right cornea as the initial clinical manifestation leading to the diagnosis of Norrie disease. Comprehensive ophthalmological examination revealed bilateral keratoconus (right eye with acute Descemet's membrane rupture), spherophakia, shallow anterior chambers, and characteristic grayish-white fibrovascular masses in the vitreous cavity. Whole-genome sequencing identified a novel hemizygous mutation in Conclusion: This represents, to our knowledge, the first report of Norrie disease presenting with acute keratoconus (hydrops) as the initial diagnostic manifestation in an undiagnosed adult. The novel p. Ser47_Ile48delinsPheLeu mutation expands both the mutational spectrum of
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