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Superficial corneal dystrophy

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Anterior corneal dystrophy; anterior corneal dystrophy; corneal epithelium corneal dystrophy (disease); Dystrophy of anterior cornea; dystrophy of anterior cornea; superficial corneal dystrophy
SNOMED CT: Anterior corneal dystrophy (430888006); Dystrophy of anterior cornea (430888006)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
X-linked recessive inheritance
MedGen UID:
Concept ID:
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
Monarch Initiative: MONDO:0020212
Orphanet: ORPHA98625


The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy. [from ORDO]

Professional guidelines


Camesasca FI, Vinciguerra R, Legrottaglie EF, Morenghi E, Trazza S, Vinciguerra P
J Refract Surg 2023 Jun;39(6):422-429. Epub 2023 Jun 1 doi: 10.3928/1081597X-20230503-01. PMID: 37306202
Dai H, Zhang Y, Li R, Li Y, Li G
Curr Eye Res 2022 Mar;47(3):436-442. Epub 2021 Nov 2 doi: 10.1080/02713683.2021.1995004. PMID: 34724870
Ruutila M, Fagerholm P, Lagali N, Hjortdal J, Bram T, Moilanen J, Kivelä TT
Cornea 2021 Feb 1;40(2):133-141. doi: 10.1097/ICO.0000000000002427. PMID: 33155577

Recent clinical studies


Haddad R, Font RL, Fine BS
Am J Ophthalmol 1977 Feb;83(2):213-8. doi: 10.1016/0002-9394(77)90619-5. PMID: 299986

Clinical prediction guides

Griffith DG, Fine BS
Am J Ophthalmol 1967 Jun;63(6):1659-66. doi: 10.1016/0002-9394(67)93643-4. PMID: 4165382

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