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Posterior polymorphous corneal dystrophy 1(PPCD1)

MedGen UID:
343836
Concept ID:
C1852555
Disease or Syndrome
Synonyms: Corneal endothelial dystrophy 1, autosomal dominant; PPCD1
 
Gene (location): OVOL2 (20p11.23)
 
Monarch Initiative: MONDO:0007378
OMIM®: 122000

Definition

A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23. [from MONDO]

Clinical features

From HPO
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Corneal opacity
MedGen UID:
40485
Concept ID:
C0010038
Finding
A reduction of corneal clarity.
Glaucoma
MedGen UID:
42224
Concept ID:
C0017601
Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Epiphora
MedGen UID:
57518
Concept ID:
C0152227
Disease or Syndrome
Abnormally increased lacrimation, that is, excessive tearing (watering eye).
Anterior synechiae of the anterior chamber
MedGen UID:
488783
Concept ID:
C0152252
Disease or Syndrome
Adhesions between the iris and the cornea.
Band-shaped keratopathy
MedGen UID:
56354
Concept ID:
C0155120
Disease or Syndrome
An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation.
Posterior polymorphous corneal dystrophy
MedGen UID:
87382
Concept ID:
C0339284
Disease or Syndrome
Posterior polymorphous corneal dystrophy (PPCD) is a rare disorder involving metaplasia and overgrowth of corneal endothelial cells (Krafchak et al., 2005). In patients with PPCD, these cells manifest in an epithelial morphology and gene expression pattern, produce an aberrant basement membrane, and, sometimes, spread over the iris and nearby structures in a way that increases the risk for glaucoma. Symptoms can range from very aggressive to asymptomatic and nonprogressive, even within the same family. The age of diagnosis is, most often, in the second or third decade of life. Clinically, PPCD is characterized by vesicles, bands, and polymorphous opacities at the level of the Descemet membrane and corneal endothelium. Peripheral anterior iris adhesions, iris atrophy, pupillary ectropion, and corectopia may also develop. Occasional severe visual disability results from secondary glaucoma or corneal edema. On ultrastructural examination, corneal endothelial cells show fibroblastic and epithelial-like transformation (summary by Liskova et al., 2012). Genetic Heterogeneity of Posterior Polymorphous Corneal Dystrophy Other forms of PPCD include PPCD2 (609140), caused by mutation in the COL8A2 gene (120252) on chromosome 1p34.3; PPCD3 (609141), caused by mutation in the ZEB1 gene (189909) on chromosome 10p; and PPCD4 (618031), caused by mutation in the GRHL2 gene (608576) on chromosome 8q22.
Iris atrophy
MedGen UID:
96095
Concept ID:
C0423319
Disease or Syndrome
Loss of iris tissue (atrophy)
Uveal ectropion
MedGen UID:
602252
Concept ID:
C0423325
Disease or Syndrome
Presence of iris pigment epithelium on the anterior surface of the iris.
Congenital ectopic pupil
MedGen UID:
224790
Concept ID:
C1271219
Congenital Abnormality
Ectopia pupillae is a congenital eye malformation in which the pupils are displaced from their normal central position.
Abnormal Descemet membrane morphology
MedGen UID:
868919
Concept ID:
C4023330
Anatomical Abnormality
Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium.
Abnormal corneal endothelium morphology
MedGen UID:
868921
Concept ID:
C4023332
Anatomical Abnormality
Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea.
Thinning of Descemet membrane
MedGen UID:
1376185
Concept ID:
C4477011
Finding
A reduction in the thickness of Descemet's membrane.

Professional guidelines

PubMed

Lechner J, Dash DP, Muszynska D, Hosseini M, Segev F, George S, Frazer DG, Moore JE, Kaye SB, Young T, Simpson DA, Churchill AJ, Héon E, Willoughby CE
Invest Ophthalmol Vis Sci 2013 May 3;54(5):3215-23. doi: 10.1167/iovs.13-11781. PMID: 23599324

Recent clinical studies

Diagnosis

Janeschitz-Kriegl L, Kamdar D, Quinodoz M, Kaminska K, Folcher M, György B, Meyer P, Wild A, Escher P, Scholl HPN, Rivolta C, Goldblum D
Cornea 2022 Jan 1;41(1):89-94. doi: 10.1097/ICO.0000000000002843. PMID: 34469340

Prognosis

Lai IN, Yellore VS, Rayner SA, D'Silva NC, Nguyen CK, Aldave AJ
Mol Vis 2010 Dec 18;16:2829-38. PMID: 21203404Free PMC Article
Yellore VS, Papp JC, Sobel E, Khan MA, Rayner SA, Farber DB, Aldave AJ
Genet Med 2007 Apr;9(4):228-34. doi: 10.1097/gim.0b013e31803c4dc2. PMID: 17438387

Clinical prediction guides

Lai IN, Yellore VS, Rayner SA, D'Silva NC, Nguyen CK, Aldave AJ
Mol Vis 2010 Dec 18;16:2829-38. PMID: 21203404Free PMC Article
Yellore VS, Papp JC, Sobel E, Khan MA, Rayner SA, Farber DB, Aldave AJ
Genet Med 2007 Apr;9(4):228-34. doi: 10.1097/gim.0b013e31803c4dc2. PMID: 17438387

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