Corneal dystrophy, punctiform and polychromatic pre-descemet(PPPCD)

MedGen UID:: 1806182
•Concept ID:: C5676982
•: Disease or Syndrome

Synonyms:	CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET; PPPCD

Gene (location): Gene(s) directly associated with this condition or phenotype.	PRDX3 (10q26.11)

Monarch Initiative:	MONDO:0859248
OMIM®:	619871

Definition

Punctiform and polychromatic pre-Descemet corneal dystrophy (PPPCD) is characterized by the presence of tiny round multicolored opacities in the posterior stroma of the cornea, immediately anterior to the Descemet membrane. Affected individuals are typically asymptomatic and experience no visual disturbance (Alio del Barrio et al., 2020). [from OMIM]

Clinical features

From HPO

Posterior corneal stroma punctiform multicolored opacities

MedGen UID:: 1815077
•Concept ID:: C5706171
•: Finding

Thin, punctiform elements of various colors in the posterior stroma of the cornea, immediately anterior to Descemet membrane. The elements are visible to direct and indirect illumination.

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Abnormality of the eye
- Posterior corneal stroma punctiform multicolored opacities

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: 38359414 Free PMC Article

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Diagnosis

IC3D Classification of Corneal Dystrophies-Edition 3.

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: 34369396 Free 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: 31782998 Free PMC Article

Heredity and in vivo confocal microscopy of punctiform and polychromatic pre-Descemet dystrophy.

Henríquez-Recine MA, Marquina-Lima KS, Vallespín-García E, García-Miñaur S, Benitez Del Castillo JM, Boto de Los Bueis A
Graefes Arch Clin Exp Ophthalmol 2018 Sep;256(9):1661-1667. Epub 2018 May 4 doi: 10.1007/s00417-018-3993-x. PMID: 29728753

Punctiform and polychromatic pre-Descemet's dominant corneal dystrophy.

Fernandez-Sasso D, Acosta JE, Malbran E
Br J Ophthalmol 1979 May;63(5):336-8. doi: 10.1136/bjo.63.5.336. PMID: 313810 Free PMC Article

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