Coexistence of Meesmann Corneal Dystrophy and a Pseudo-Unilateral Lattice Corneal Dystrophy in a Patient With a Novel Pathogenic Variant in the Keratin K3 Gene: A Case Report.

Abstract

PURPOSE:

This study aims to clinically and genetically report a case of coexisting Meesmann corneal dystrophy (MECD) and pseudo-unilateral lattice corneal dystrophy (LCD).

METHODS:

Clinical characterization was supported by a complete ophthalmological evaluation, including visual acuity measurement and slit-lamp examination. Molecular diagnosis was performed by whole-exome sequencing analyzing the gelsolin, keratin K3 (KRT3), keratin K12, and transforming growth factor-beta-induced genes.

RESULTS:

A 57-year-old woman presented with recurrent corneal erosions over 17 years and visual impairment in both eyes. Ophthalmological evaluation revealed multiple central tiny cysts in the epithelium of both eyes and lattice linear lesions only in the right cornea. In both eyes, a corneal posterior crocodile shagreen degeneration could also be observed. These findings were compatible with a MECD and a unilateral LCD. Molecular analysis identified the novel heterozygous nucleotide substitution c.1492G>A (amino acid change p.Glu498Lys) in the KRT3 gene, in cosegregation with the MECD familial phenotype. However, no genetic evidence supported the unique LCD phenotype observed in the patient.

CONCLUSIONS:

To the best of our knowledge, this is the first report of a pseudo-unilateral LCD in a patient with coexistent MECD. Moreover, the genetic analysis showed a novel mutation in the previously MECD-associated gene KRT3.

• Authors: Víctor Abad-Morales, Miriam Barbany, Oscar Gris, José Luis Güell, Esther Pomares
• Journal: Cornea (Cornea) Vol. 40 Issue 3 Pg. 370-372 (Mar 01 2021) ISSN: 1536-4798 [Electronic] United States
• PMID: 33346999 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc.

Chemical References

• Gelsolin
• KRT12 protein, human
• KRT3 protein, human
• Keratin-12
• Keratin-3
• Transforming Growth Factor beta

Topics

• Amyloid Neuropathies, Familial (complications, genetics)
• Corneal Dystrophies, Hereditary (complications, genetics)
• Corneal Dystrophy, Juvenile Epithelial of Meesmann (complications, genetics)
• DNA Mutational Analysis
• Female
• Gelsolin (genetics)
• Humans
• Keratin-12 (genetics)
• Keratin-3 (genetics)
• Male
• Middle Aged
• Mutation, Missense
• Pedigree
• Transforming Growth Factor beta (genetics)
• Exome Sequencing