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Corneal dystrophy, posterior polymorphous, 4(PPCD4)

MedGen UID:
1648359
Concept ID:
C4747961
Disease or Syndrome
Synonyms: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4; PPCD4
 
Gene (location): GRHL2 (8q22.3)
 
Monarch Initiative: MONDO:0054832
OMIM®: 618031

Definition

PPCD4 is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape. There is inter- and intrafamilial as well as intraindividual variability. Symptoms can include blurred vision due to corneal edema, reduced visual acuity, secondary glaucoma, and corectopia; some affected individuals are asymptomatic. Rare patients have undergone enucleation for painful eye (Liskova et al., 2018). For a discussion of genetic heterogeneity of PPCD, see 122000. [from OMIM]

Clinical features

From HPO
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
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.

Recent clinical studies

Etiology

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
Noguchi A, Okumura N, Sotozono C, Kinoshita S
Cornea 2018 Jul;37(7):813-817. doi: 10.1097/ICO.0000000000001612. PMID: 29757851
Ahn YJ, Choi SI, Yum HR, Shin SY, Park SH
Optom Vis Sci 2017 Apr;94(4):476-481. doi: 10.1097/OPX.0000000000001039. PMID: 28009792
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
Savige J, Sheth S, Leys A, Nicholson A, Mack HG, Colville D
Clin J Am Soc Nephrol 2015 Apr 7;10(4):703-9. Epub 2015 Feb 3 doi: 10.2215/CJN.10581014. PMID: 25649157Free PMC Article

Diagnosis

Liskova P, Hafford-Tear NJ, Skalicka P, Malinka F, Jedlickova J, Ďuďáková Ľ, Pontikos N, Davidson AE, Tuft S
Acta Ophthalmol 2022 Nov;100(7):e1426-e1430. Epub 2022 Feb 17 doi: 10.1111/aos.15114. PMID: 35174971
Noguchi A, Okumura N, Sotozono C, Kinoshita S
Cornea 2018 Jul;37(7):813-817. doi: 10.1097/ICO.0000000000001612. PMID: 29757851
Ahn YJ, Choi SI, Yum HR, Shin SY, Park SH
Optom Vis Sci 2017 Apr;94(4):476-481. doi: 10.1097/OPX.0000000000001039. PMID: 28009792
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
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

Therapy

Krolo I, Kasumović A, Radman I, Pavić P
Eur J Ophthalmol 2021 Jul;31(4):1584-1587. Epub 2021 Feb 25 doi: 10.1177/1120672121997672. PMID: 33631984
Bhullar PK, Venkateswaran N, Kim T
Cornea 2021 May 1;40(5):652-655. doi: 10.1097/ICO.0000000000002514. PMID: 33065714
Bower KS, Trudo EW, Ryan DS, Sia RK, Mines MJ, Stutzman RD, Wroblewski KJ
J Cataract Refract Surg 2011 Jun;37(6):1101-8. doi: 10.1016/j.jcrs.2010.12.045. PMID: 21596253
Anshu A, Chee SP, Mehta JS, Tan DT
Ophthalmology 2009 Apr;116(4):624-30. Epub 2009 Feb 4 doi: 10.1016/j.ophtha.2008.10.031. PMID: 19195708

Prognosis

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
Savige J, Sheth S, Leys A, Nicholson A, Mack HG, Colville D
Clin J Am Soc Nephrol 2015 Apr 7;10(4):703-9. Epub 2015 Feb 3 doi: 10.2215/CJN.10581014. PMID: 25649157Free PMC Article
Ciralsky J, Colby K
Semin Ophthalmol 2007 Oct-Dec;22(4):241-6. doi: 10.1080/08820530701745157. PMID: 18097987

Clinical prediction guides

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
Savige J, Sheth S, Leys A, Nicholson A, Mack HG, Colville D
Clin J Am Soc Nephrol 2015 Apr 7;10(4):703-9. Epub 2015 Feb 3 doi: 10.2215/CJN.10581014. PMID: 25649157Free PMC Article
Shimizu S, Krafchak C, Fuse N, Epstein MP, Schteingart MT, Sugar A, Eibschitz-Tsimhoni M, Downs CA, Rozsa F, Trager EH, Reed DM, Boehnke M, Moroi SE, Richards JE
Am J Med Genet A 2004 Nov 1;130A(4):372-7. doi: 10.1002/ajmg.a.30267. PMID: 15384081Free PMC Article
Kivelä T, Uusitalo M
Prog Retin Eye Res 1998 Jul;17(3):385-428. doi: 10.1016/s1350-9462(98)00001-9. PMID: 9695798

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