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Article

Autosomal recessive congenital hereditary corneal dystrophy associated with a novel SLC4A11 mutation in two consanguineous Tunisian families.

The British journal of ophthalmology - 1 Feb 2022

Chibani Zohra, Abid Imen Zone, Söderkvist Peter, Feki Jamel, Aifa Mounira Hmani

Abstract excerpt

BACKGROUND: Autosomal recessive congenital hereditary corneal dystrophy (CHED) is a rare isolated developmental anomaly of the eye characterised by diffuse bilateral corneal clouding that may lead to visual impairment requiring corneal transplantation. CHED is known to be caused by mutations in the solute carrier family 4 member 11 (SLC4A11) gene which encodes a membrane transporter protein (sodium bicarbonate...

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Identifiers

PMID: 33879471
DOI: 10.1136/bjophthalmol-2020-318204

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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