Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population.
Ectropion
Ichthyosis
Lamellar ichthyosis
TGM1
Journal
International ophthalmology
ISSN: 1573-2630
Titre abrégé: Int Ophthalmol
Pays: Netherlands
ID NLM: 7904294
Informations de publication
Date de publication:
Oct 2023
Oct 2023
Historique:
received:
03
04
2023
accepted:
22
06
2023
medline:
18
9
2023
pubmed:
6
8
2023
entrez:
5
8
2023
Statut:
ppublish
Résumé
To describe the ocular clinical characteristics of a group of Mexican patients with lamellar ichthyosis (LI) arising from TGM1 pathogenic variants. Ophthalmological exploration, pedigree analysis and genetic screening were performed in patients with an established clinical diagnosis of lamellar ichthyosis from families located in a small community in the Southeast of Mexico. Nine patients with LI in five families were identified. There were six affected females. All patients (9/9) demonstrated eye lid abnormalities with eight patients showing lid margin abnormalities. Madarosis was present in only three individuals and corneal scarring was documented in two. All nine individuals carried biallelic TGM1 variants, either homozygously or as compound heterozygous. Ocular anomalies are common in individuals with TGM1-related LI. The occurrence of a variety of private or rare mutations hampers the identification of a genotype-phenotype correlation for ocular anomalies in this disorder.
Identifiants
pubmed: 37542530
doi: 10.1007/s10792-023-02774-3
pii: 10.1007/s10792-023-02774-3
pmc: PMC10504104
doi:
Substances chimiques
Transglutaminases
EC 2.3.2.13
transglutaminase 1
EC 2.3.2.13
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
3659-3665Informations de copyright
© 2023. The Author(s).
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