macular corneal dystrophy

Summary
Synonym
  • Fehr corneal dystrophy
  • MACULAR DYSTROPHY, CORNEAL, 1
Definition
A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea.
Super Class
stromal dystrophy
Disease Ontology
DOID:2565
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4166 CHST6 carbohydrate sulfotransferase 6
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 15 in total
HPO ID HPO Term
HP:0007856 Punctate opacification of the cornea
HP:0200026 Ocular pain
HP:0000495 Recurrent corneal erosions
HP:0012155 Decreased corneal sensation
HP:0000484 Hyperopic astigmatism
HP:0001939 Abnormality of metabolism/homeostasis
HP:0000613 Photophobia
HP:0007759 Opacification of the corneal stroma
HP:0000531 Corneal crystals
HP:0001141 Severely reduced visual acuity
Displaying 1 entry
Gene ID Gene Symbol Description
4166 CHST6 carbohydrate sulfotransferase 6

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 8, 2025