Punctiform and Polychromatic Pre-Descemet Corneal Dystrophy: Clinical Evaluation and Identification of the Genetic Basis

Barrio, Jorge L. Alió del; Chung, Dang Huu; Al-Shymali, Olena; Barrington, Alice; Jatavallabhula, Kavya; Swamy, Vinay; Yébana, Pilar; Henríquez-Recine, María Angélica; Boto-de-los-Bueis, Ana; Alió, Jorge L.; Aldave, Anthony J.

doi:10.1016/j.ajo.2019.11.024

Cited by 11 publications

(8 citation statements)

References 23 publications

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“…Screening of PRDX3 in the proband revealed the c.568G>C variant previously identified in 4 Spanish PPPCD families. 2 Screening of PDZD8 , which is located approximately 2 MB from PRDX3 , demonstrated the absence of the c.872+10A>T intronic variant that was previously identified in 3 Spanish families with PPPCD. 2…”

Section: Resultsmentioning

confidence: 67%

“…2 Screening of PDZD8 , which is located approximately 2 MB from PRDX3 , demonstrated the absence of the c.872+10A>T intronic variant that was previously identified in 3 Spanish families with PPPCD. 2…”

Section: Resultsmentioning

confidence: 67%

“…Previously designed primers were used to amplify PDZD8 intron 1 and PRDX3 exon 6 . 2 DNA amplification by polymerase chain reaction (PCR) was performed as previously described. 2 Sanger sequencing was performed by Laragen, Inc (Culver City, CA).…”

Section: Methodsmentioning

confidence: 99%

“…2 DNA amplification by polymerase chain reaction (PCR) was performed as previously described. 2 Sanger sequencing was performed by Laragen, Inc (Culver City, CA).…”

Section: Dna Isolation Pcr Amplification and Sanger Sequencingmentioning

confidence: 99%

“…1 Since PPPCD was first described by Fernandez-Sasso et al in 1974, only 13 families with PPPCD have been reported in literature, of which 8 were of Spanish ancestry and 9 demonstrated an autosomal dominant inheritance. [1][2][3][4][5][6][7][8] Recently, we identified 2 variants that segregated with the affected phenotype in 3 unreported Spanish PPPCD families: a rare intronic variant in PDZ domain-containing protein 8 (PDZD8) (c.872+10A.T) and a novel missense variant in peroxiredoxin 3 (PRDX3) (c.568G.C (p.Asp190His)). 2 As only the PRDX3 variant was identified in a previously reported Spanish family with PPPCD, we concluded that this was most likely the pathogenic variant.…”

mentioning

confidence: 99%

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Confirmation of PRDX3 c.568G>C as the Genetic Basis of Punctiform and Polychromatic Pre-Descemet Corneal Dystrophy

Choo

Boto-de-los-Bueis

Chung

et al. 2021

Cornea

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The aim of this study was to report the results of screening peroxiredoxin 3 (PRDX3) and PDZ domain-containing protein 8 (PDZD8) in a previously unreported pedigree with punctiform and polychromatic pre-Descemet corneal dystrophy (PPPCD) to confirm that the PRDX3 mutation c.568G.C is the genetic basis of PPPCD.Methods: Ophthalmologic examination of the proband and her affected father was performed with slit lamp biomicroscopy. Saliva was collected from the proband as a source of DNA, after which screening for PRDX3 and PDZD8 was performed.Results: Slit lamp examination of the proband revealed polychromatic deposits diffusely distributed at the pre-Descemet level in both corneas and anterior subcapsular in the crystalline lens of both eyes. The proband's father also demonstrated diffuse pre-Descemetic polychromatic deposits in both eyes but no lenticular deposits. Screening of PRDX3 in the proband demonstrated the c.568G.C (p.Asp190His) variant previously associated with PPPCD and failed to identify any variants in PDZD8. Conclusions:We report the initial confirmation of PRDX3 as the genetic basis of PPPCD in a previously unreported pedigree and expand the phenotype of PPPCD to include polychromatic lenticular deposits.

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Section: Resultsmentioning

confidence: 67%

Section: Resultsmentioning

confidence: 67%

Section: Methodsmentioning

confidence: 99%

“…2 DNA amplification by polymerase chain reaction (PCR) was performed as previously described. 2 Sanger sequencing was performed by Laragen, Inc (Culver City, CA).…”

Section: Dna Isolation Pcr Amplification and Sanger Sequencingmentioning

confidence: 99%