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Posterior polymorphous corneal dystrophy 2(PPCD2)

MedGen UID:
377757
Concept ID:
C1852795
Disease or Syndrome
Synonym: Corneal Dystrophy, Posterior Polymorphous, 2
 
Gene (location): COL8A2 (1p34.3)
 
Monarch Initiative: MONDO:0012199
OMIM®: 609140

Definition

Posterior polymorphous corneal dystrophy-2 (PPCD2) is characterized by formation of blister-like lesions within the corneal endothelium or by regions of endothelial basement membrane thickening with associated corneal edema. The normal amitotic endothelial cells are replaced by epithelial-like cells that possess abundant intermediate filaments, desmosomes, and microvilli. The endothelium becomes multilayered and the abnormally proliferating cells may extend outwards from the cornea over the trabecular meshwork to cause glaucoma (summary by Biswas et al., 2001). For a general phenotypic description and a discussion of genetic heterogeneity of PPCD, see PPCD1 (122000). [from OMIM]

Clinical features

From HPO
Corneal dystrophy
MedGen UID:
3619
Concept ID:
C0010036
Disease or Syndrome
The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.
Corneal opacity
MedGen UID:
40485
Concept ID:
C0010038
Finding
A reduction of corneal clarity.

Recent clinical studies

Etiology

Kannabiran C, Chaurasia S, Ramappa M, Mootha VV
Indian J Ophthalmol 2022 Jul;70(7):2239-2248. doi: 10.4103/ijo.IJO_992_22. PMID: 35791103Free PMC Article
Elhusseiny AM, Saeed HN
Cornea 2022 Jun 1;41(6):734-739. Epub 2021 Aug 30 doi: 10.1097/ICO.0000000000002847. PMID: 34469341
Davidson AE, Hafford-Tear NJ, Dudakova L, Sadan AN, Pontikos N, Hardcastle AJ, Tuft SJ, Liskova P
Eur J Hum Genet 2020 Jan;28(1):126-131. Epub 2019 Jun 14 doi: 10.1038/s41431-019-0448-8. PMID: 31201376Free PMC Article
Chaurasia S, Mittal R, Bichappa G, Ramappa M, Murthy SI
Int Ophthalmol 2017 Aug;37(4):945-952. Epub 2016 Sep 22 doi: 10.1007/s10792-016-0360-y. PMID: 27658681
Woreta FA, Davis GW, Bower KS
Surv Ophthalmol 2015 Mar-Apr;60(2):115-22. Epub 2014 Aug 23 doi: 10.1016/j.survophthal.2014.08.003. PMID: 25307289

Diagnosis

Kannabiran C, Chaurasia S, Ramappa M, Mootha VV
Indian J Ophthalmol 2022 Jul;70(7):2239-2248. doi: 10.4103/ijo.IJO_992_22. PMID: 35791103Free PMC Article
Elhusseiny AM, Saeed HN
Cornea 2022 Jun 1;41(6):734-739. Epub 2021 Aug 30 doi: 10.1097/ICO.0000000000002847. PMID: 34469341
Davidson AE, Hafford-Tear NJ, Dudakova L, Sadan AN, Pontikos N, Hardcastle AJ, Tuft SJ, Liskova P
Eur J Hum Genet 2020 Jan;28(1):126-131. Epub 2019 Jun 14 doi: 10.1038/s41431-019-0448-8. PMID: 31201376Free PMC Article
Weiss JS, Møller HU, Aldave AJ, Seitz B, Bredrup C, Kivelä T, Munier FL, Rapuano CJ, Nischal KK, Kim EK, Sutphin J, Busin M, Labbé A, Kenyon KR, Kinoshita S, Lisch W
Cornea 2015 Feb;34(2):117-59. doi: 10.1097/ICO.0000000000000307. PMID: 25564336
Seitz B, Lisch W
Dev Ophthalmol 2011;48:116-153. Epub 2011 Apr 26 doi: 10.1159/000324081. PMID: 21540634

Therapy

Nakagawa S, Ishii K
Medicine (Baltimore) 2024 Aug 2;103(31):e39211. doi: 10.1097/MD.0000000000039211. PMID: 39093770Free PMC Article
Bhullar PK, Venkateswaran N, Kim T
Cornea 2021 May 1;40(5):652-655. doi: 10.1097/ICO.0000000000002514. PMID: 33065714
Woreta FA, Davis GW, Bower KS
Surv Ophthalmol 2015 Mar-Apr;60(2):115-22. Epub 2014 Aug 23 doi: 10.1016/j.survophthal.2014.08.003. PMID: 25307289

Prognosis

Bhullar PK, Venkateswaran N, Kim T
Cornea 2021 May 1;40(5):652-655. doi: 10.1097/ICO.0000000000002514. PMID: 33065714
Davidson AE, Hafford-Tear NJ, Dudakova L, Sadan AN, Pontikos N, Hardcastle AJ, Tuft SJ, Liskova P
Eur J Hum Genet 2020 Jan;28(1):126-131. Epub 2019 Jun 14 doi: 10.1038/s41431-019-0448-8. PMID: 31201376Free PMC Article
Sorkin N, Einan-Lifshitz A, Boutin T, Showail M, Borovik A, Chan CC, Rootman DS
Can J Ophthalmol 2019 Apr;54(2):190-195. Epub 2018 Aug 23 doi: 10.1016/j.jcjo.2018.05.012. PMID: 30975342
Dudakova L, Evans CJ, Pontikos N, Hafford-Tear NJ, Malinka F, Skalicka P, Horinek A, Munier FL, Voide N, Studeny P, Vanikova L, Kubena T, Rojas Lopez KE, Davidson AE, Hardcastle AJ, Tuft SJ, Liskova P
Exp Eye Res 2019 May;182:160-166. Epub 2019 Mar 7 doi: 10.1016/j.exer.2019.03.002. PMID: 30851240
Chaurasia S, Mittal R, Bichappa G, Ramappa M, Murthy SI
Int Ophthalmol 2017 Aug;37(4):945-952. Epub 2016 Sep 22 doi: 10.1007/s10792-016-0360-y. PMID: 27658681

Clinical prediction guides

Davidson AE, Hafford-Tear NJ, Dudakova L, Sadan AN, Pontikos N, Hardcastle AJ, Tuft SJ, Liskova P
Eur J Hum Genet 2020 Jan;28(1):126-131. Epub 2019 Jun 14 doi: 10.1038/s41431-019-0448-8. PMID: 31201376Free PMC Article
Dudakova L, Evans CJ, Pontikos N, Hafford-Tear NJ, Malinka F, Skalicka P, Horinek A, Munier FL, Voide N, Studeny P, Vanikova L, Kubena T, Rojas Lopez KE, Davidson AE, Hardcastle AJ, Tuft SJ, Liskova P
Exp Eye Res 2019 May;182:160-166. Epub 2019 Mar 7 doi: 10.1016/j.exer.2019.03.002. PMID: 30851240
Noguchi A, Okumura N, Sotozono C, Kinoshita S
Cornea 2018 Jul;37(7):813-817. doi: 10.1097/ICO.0000000000001612. PMID: 29757851
Del Turco C, Pierro L, Querques G, Gagliardi M, Corvi F, Manitto MP, Bandello FM
Eur J Ophthalmol 2015 Mar-Apr;25(2):177-9. Epub 2014 Oct 8 doi: 10.5301/ejo.5000526. PMID: 25363852
Nguyen DQ, Hosseini M, Billingsley G, Héon E, Churchill AJ
Acta Ophthalmol 2010 Sep;88(6):695-9. doi: 10.1111/j.1755-3768.2009.01511.x. PMID: 19432861

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