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Pre-descemet corneal dystrophy

MedGen UID:
573065
•Concept ID:
C0339282
•
Congenital Abnormality
Synonyms: PDCD; pre-descemet corneal dystrophy; Pre-Descemet corneal dystrophy; Pre-descemet's corneal dystrophy
SNOMED CT: Pre-descemet corneal dystrophy (231934009); Pre-descemet's corneal dystrophy (231934009)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017392
Orphanet: ORPHA293462

Definition

Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPre-descemet corneal dystrophy
Follow this link to review classifications for Pre-descemet corneal dystrophy in Orphanet.

Recent clinical studies

Etiology

IC3D Classification of Corneal Dystrophies-Edition 3.
Weiss JS, Rapuano CJ, Seitz B, Busin M, Kivelä TT, Bouheraoua N, Bredrup C, Nischal KK, Chawla H, Borderie V, Kenyon KR, Kim EK, Møller HU, Munier FL, Berger T, Lisch W
Cornea 2024 Apr 1;43(4):466-527. Epub 2024 Feb 12 doi: 10.1097/ICO.0000000000003420. PMID: 38359414Free PMC Article
Multimodal imaging of pre-Descemet corneal dystrophy.
Alafaleq M, Georgeon C, Grieve K, Borderie VM
Eur J Ophthalmol 2020 Sep;30(5):908-916. Epub 2019 Jul 12 doi: 10.1177/1120672119862505. PMID: 31298040

Diagnosis

IC3D Classification of Corneal Dystrophies-Edition 3.
Weiss JS, Rapuano CJ, Seitz B, Busin M, Kivelä TT, Bouheraoua N, Bredrup C, Nischal KK, Chawla H, Borderie V, Kenyon KR, Kim EK, Møller HU, Munier FL, Berger T, Lisch W
Cornea 2024 Apr 1;43(4):466-527. Epub 2024 Feb 12 doi: 10.1097/ICO.0000000000003420. PMID: 38359414Free PMC Article
Identification of a novel partial deletion of STS associated with pre-Descemet corneal dystrophy and X-linked ichthyosis.
Williams D, Onyia O, Chung DD, Kirakosyan A, Hovakimyan A, Payne C, Moshirfar M, Aldave AJ
Mol Vis 2023;29:25-30. Epub 2023 Apr 29 PMID: 37287641Free PMC Article
Confirmation of PRDX3 c.568G>C as the Genetic Basis of Punctiform and Polychromatic Pre-Descemet Corneal Dystrophy.
Choo CH, Boto de Los Bueis A, Chung DD, Aldave AJ
Cornea 2022 Jun 1;41(6):779-781. Epub 2021 Aug 5 doi: 10.1097/ICO.0000000000002828. PMID: 34369396Free PMC Article
Punctiform and Polychromatic Pre-Descemet Corneal Dystrophy: Clinical Evaluation and Identification of the Genetic Basis.
Alió Del Barrio JL, Chung DD, Al-Shymali O, Barrington A, Jatavallabhula K, Swamy VS, Yébana P, Angélica Henríquez-Recine M, Boto-de-Los-Bueis A, Alió JL, Aldave AJ
Am J Ophthalmol 2020 Apr;212:88-97. Epub 2019 Nov 27 doi: 10.1016/j.ajo.2019.11.024. PMID: 31782998Free PMC Article
Multimodal imaging of pre-Descemet corneal dystrophy.
Alafaleq M, Georgeon C, Grieve K, Borderie VM
Eur J Ophthalmol 2020 Sep;30(5):908-916. Epub 2019 Jul 12 doi: 10.1177/1120672119862505. PMID: 31298040

Prognosis

Punctiform and Polychromatic Pre-Descemet Corneal Dystrophy: Clinical Evaluation and Identification of the Genetic Basis.
Alió Del Barrio JL, Chung DD, Al-Shymali O, Barrington A, Jatavallabhula K, Swamy VS, Yébana P, Angélica Henríquez-Recine M, Boto-de-Los-Bueis A, Alió JL, Aldave AJ
Am J Ophthalmol 2020 Apr;212:88-97. Epub 2019 Nov 27 doi: 10.1016/j.ajo.2019.11.024. PMID: 31782998Free PMC Article
Corneal confocal microscopy findings in sporadic cases of pre-descemet corneal dystrophy.
Kontadakis GA, Kymionis GD, Kankariya VP, Papadiamantis AG, Pallikaris AI
Eye Contact Lens 2014 Mar;40(2):e8-e12. doi: 10.1097/ICL.0b013e318273be9f. PMID: 23392298

Clinical prediction guides

Punctiform and Polychromatic Pre-Descemet Corneal Dystrophy: Clinical Evaluation and Identification of the Genetic Basis.
Alió Del Barrio JL, Chung DD, Al-Shymali O, Barrington A, Jatavallabhula K, Swamy VS, Yébana P, Angélica Henríquez-Recine M, Boto-de-Los-Bueis A, Alió JL, Aldave AJ
Am J Ophthalmol 2020 Apr;212:88-97. Epub 2019 Nov 27 doi: 10.1016/j.ajo.2019.11.024. PMID: 31782998Free PMC Article
Multimodal imaging of pre-Descemet corneal dystrophy.
Alafaleq M, Georgeon C, Grieve K, Borderie VM
Eur J Ophthalmol 2020 Sep;30(5):908-916. Epub 2019 Jul 12 doi: 10.1177/1120672119862505. PMID: 31298040
In vivo confocal microscopy of pre-Descemet corneal dystrophy associated with X-linked ichthyosis: a case report.
Shi H, Qi XF, Liu TT, Hao Q, Li XH, Liang LL, Wang YM, Cui ZH
BMC Ophthalmol 2017 Mar 16;17(1):29. doi: 10.1186/s12886-017-0423-5. PMID: 28302098Free PMC Article
Corneal confocal microscopy findings in sporadic cases of pre-descemet corneal dystrophy.
Kontadakis GA, Kymionis GD, Kankariya VP, Papadiamantis AG, Pallikaris AI
Eye Contact Lens 2014 Mar;40(2):e8-e12. doi: 10.1097/ICL.0b013e318273be9f. PMID: 23392298

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