[Mucolipidosis type IV and corneal lesion: A pediatric case report]

J Fr Ophtalmol. 2018 Mar;41(3):e121-e122. doi: 10.1016/j.jfo.2017.11.007. Epub 2018 Mar 13.

[Article in French]

Authors

A Taleb¹, C Rodier Bonifas², S Boucher², V Kocaba², F Mege Chevallier², C Burillon²

Affiliations

¹ Édouard Herriot hospital, 8, avenue Rockefeller, 69373 Lyon, France. Electronic address: aude.taleb@chu-lyon.fr.
² Édouard Herriot hospital, 8, avenue Rockefeller, 69373 Lyon, France.

PMID: 29548701
DOI: 10.1016/j.jfo.2017.11.007

No abstract available

Keywords: Corneal opacity; Lysosomal disorder; Maladie de surcharge; Mucolipidose type 4; Mucolipidosis type 4; Opacité cornéenne.

Publication types

Case Reports
Letter

MeSH terms

Child, Preschool
Corneal Diseases / diagnosis*
Corneal Diseases / etiology*
Corneal Diseases / surgery
Corneal Dystrophies, Hereditary / diagnosis
Corneal Dystrophies, Hereditary / etiology
Corneal Dystrophies, Hereditary / surgery
DNA Mutational Analysis
Humans
Keratoplasty, Penetrating
Male
Mucolipidoses / complications*
Mucolipidoses / diagnosis*
Mucolipidoses / surgery
Mutation
Transient Receptor Potential Channels / genetics

Substances

MCOLN1 protein, human
Transient Receptor Potential Channels