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Article

Familial Gelatinous Drop-Like Corneal Dystrophy Caused by a Novel Nonsense TACSTD2 Mutation.

Cornea - 1 Jul 2016

Cabral-Macias Jesus, Zenteno Juan C, Ramirez-Miranda Arturo, Navas Alejandro, Bermudez-Magner Jose A, Boullosa-Graña Víctor M, Graue-Hernandez Enrique O, Buentello-Volante Beatriz

Abstract excerpt

PURPOSE: To describe the clinical findings and results of molecular analysis in a Mexican family diagnosed with gelatinous drop-like corneal dystrophy (GDLD). METHODS: Ophthalmological examination was performed in 1 unaffected and 4 affected relatives. Molecular analysis included polymerase chain reaction amplification and direct nucleotide sequencing of the entire TACSTD2 gene-coding region in genomic DNA....

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Share to Amyloidosis, Familial
Share to Antigens, Neoplasm

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Codon, Nonsense

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Share to Corneal Dystrophies, Hereditary

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Source

Identifiers

PMID: 27149532
DOI: 10.1097/ICO.0000000000000863

Genes

TACSTD2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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