Work

New Phenotype in Two Siblings with Familial FLVCR1 Mutation: Neurotrophic Keratopathy

Year: 2025

Type: article

Abstract: mutations can disrupt choline transport and therefore acetylcholine production. Acetylcholine increases cGMP in the cornea, promoting epithelial growth. A lack of this neurotransmitter in the cornea leads to epithelial destruction. The development of neurotrophic keratopathy in this patient and her sibling may be a new phenotypic feature of this novel variant.

Source: Turkish Journal of Ophthalmology

DOI: 10.4274/tjo.galenos.2025.05043

Authors: Betül Dertsiz Kozan, Mehmet Fuat Alakuş, Hamza Polat

Institutions: Sağlık Bilimleri Üniversitesi, Diyarbakır Gazi Yaşargil Eğitim ve Araştırma Hastanesi

Language: English

Topic: Ocular Surface and Contact Lens

Subfield: Public Health, Environmental and Occupational Health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4415569213

FWCI: 0.849

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Cited by: 1

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