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Cornea plana 2(CNA2)

MedGen UID:
346616
Concept ID:
C1857574
Disease or Syndrome
Synonyms: CNA2; CORNEA PLANA 2, AUTOSOMAL RECESSIVE
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:curators]
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): KERA (12q21.33)
OMIM®: 217300

Definition

Cornea plana is clinically characterized by reduced corneal curvature leading in most cases to hyperopia, hazy corneal limbus, and arcus lipoides at an early age. CNA2 is a severe form of the disorder, which is frequently associated with additional ocular manifestations (summary by Tahvanainen et al., 1996). For discussion of genetic heterogeneity of CNA, see CNA1 (121400). [from OMIM]

Clinical features

Corneal arcus
MedGen UID:
8179
Concept ID:
C0003742
Finding
A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera.
Hypermetropia
MedGen UID:
43780
Concept ID:
C0020490
Disease or Syndrome
A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed)
Flat cornea
MedGen UID:
576329
Concept ID:
C0344529
Congenital Abnormality
Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age.
Decreased corneal thickness
MedGen UID:
473349
Concept ID:
C1096274
Disease or Syndrome
A decreased anteroposterior thickness of the cornea.

Recent clinical studies

Prognosis

Roos L, Bertelsen B, Harris P, Bygum A, Jensen H, Grønskov K, Tümer Z
BMC Med Genet 2015 Jun 23;16:40. doi: 10.1186/s12881-015-0179-9. PMID: 26099342Free PMC Article

Clinical prediction guides

Roos L, Bertelsen B, Harris P, Bygum A, Jensen H, Grønskov K, Tümer Z
BMC Med Genet 2015 Jun 23;16:40. doi: 10.1186/s12881-015-0179-9. PMID: 26099342Free PMC Article

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