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Cornea plana 2(CNA2)

MedGen UID:
346616
Concept ID:
C1857574
Disease or Syndrome
Synonyms: CNA2; CORNEA PLANA 2, AUTOSOMAL RECESSIVE
 
Gene (location): KERA (12q21.33)
 
Monarch Initiative: MONDO:0009014
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

From HPO
Arcus senilis
MedGen UID:
8179
Concept ID:
C0003742
Finding
A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years.
Hypermetropia
MedGen UID:
43780
Concept ID:
C0020490
Disease or Syndrome
An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
Cornea plana
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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