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Article

Phenotype and genotype analysis in patients with macular corneal dystrophy.

The British journal of ophthalmology - 1 Nov 2014

Nowinska Anna K, Wylegala Edward, Teper Sławomir, Wróblewska-Czajka Ewa, Aragona Pasquale, Roszkowska Anna M, Micali Antonio, Pisani Antonina, Puzzolo Domenico

Abstract excerpt

AIM: The aim of this study was to analyse corneal morphological organisation and identify mutations in the carbohydrate sulfotransferase 6 gene (CHST6) in patients with macular corneal dystrophy originating in a Polish population. METHODS: Macular corneal dystrophy was diagnosed in 24 patients based on the slit-lamp exam, confocal microscopy, 1310 nm time domain and 840 nm spectral domain optical coherence...

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Share to Microscopy, Confocal
Share to Corneal Dystrophies, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Mutation, Missense

Share to Sulfotransferases

Share to Tomography, Optical Coherence

Share to Visual Acuity

Share to Young Adult

Source

Identifiers

PMID: 24926691
DOI: 10.1136/bjophthalmol-2014-305098

Genes

CHST6

Provenance

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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