KEGG DISEASE: Lisch epithelial corneal dystrophy

KEGG

DISEASE: Lisch epithelial corneal dystrophy

Entry

H02822                      Disease

Name

Lisch epithelial corneal dystrophy

Description

Lisch epithelial corneal dystrophy (LECD) is a rare corneal dystrophy with characteristic whorling pattern on clinical exam with distinct pathological findings that include the presence of giant vacuoles replacing the epithelium. It has been reported that mutations in MCOLN1 cause this disease. MCOLN1 encodes a member of the TRP cation channel gene family. It localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
  Disorders of the eyeball anterior segment
   Disorders of the cornea
    9A70  Hereditary corneal dystrophies
     H02822  Lisch epithelial corneal dystrophy

Gene

MCOLN1 [HSA:57192] [KO:K04992]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Patterson K, Chong JX, Chung DD, Lisch W, Karp CL, Dreisler E, Lockington D, Rohrbach JM, Garczarczyk-Asim D, Muller T, Tuft SJ, Skalicka P, Wilnai Y, Samra NN, Ibrahim A, Mandel H, Davidson AE, Liskova P, Aldave AJ, Bamshad MJ, Janecke AR

Title

Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1.

Journal

Am J Ophthalmol 258:183-195 (2024)
DOI:10.1016/j.ajo.2023.10.011

Reference

Authors

Pole C, Sise A, Joag M, Galor A, Bermudez-Magner JA, Dubovy S, Karp CL

Title

High-Resolution Optical Coherence Tomography Findings of Lisch Epithelial Corneal Dystrophy.

Journal

Cornea 35:392-4 (2016)
DOI:10.1097/ICO.0000000000000722

LinkDB

» Japanese version

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