Punctiform and Polychromatic Pre-Descemet Corneal Dystrophy: Clinical Evaluation and Identification of the Genetic Basis.
Am J Ophthalmol
; 212: 88-97, 2020 04.
Article
em En
| MEDLINE
| ID: mdl-31782998
ABSTRACT
PURPOSE:
This study reports the clinical features and genetic bases of 3 previously unreported families with punctiform and polychromatic pre-Descemet corneal dystrophy (PPPCD).DESIGN:
Observational case series.METHODS:
Full ophthalmic assessment was performed for members of 3 unreported families with PPPCD. Structural and biomechanical alterations of the cornea were screened. Whole exome sequencing (WES) was performed in the first family. Novel or rare variants that segregated with the affected status were screened in the other 2 families using Sanger sequencing. Identified variants that segregated with the affected status in all families were characterized by using in silico prediction tools and/or in vitro splice assays. Additionally, 2 previously reported PPPCD families were screened for variants identified in the 3 unreported PPPCD families.RESULTS:
PPPCD was diagnosed in 12 of the 21 examined members of the 3 unreported families. The only refractive, topographic, or biomechanical abnormality associated with PPPCD was a significantly increased corneal stiffness. WES and Sanger sequencing identified 2 variants that segregated with the affected status in all 3 families a rare intronic PDZD8 c.872+10A>T variant and a novel missense PRDX3 c.568G>C (p.Asp190His) variant. The same PRDX3 variant was identified in the previously reported PPPCD family expressing the common PPPCD phenotype and was predicted by in silico prediction tools to be damaging to protein function.CONCLUSIONS:
PPPCD is associated with an alteration of corneal biomechanics and a novel missense variant in PRDX3. Screening of additional families will determine whether all families demonstrate a PRDX3 variant or whether locus heterogeneity may exist for PPPCD.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Distrofias Hereditárias da Córnea
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Mutação de Sentido Incorreto
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Peroxirredoxina III
Tipo de estudo:
Diagnostic_studies
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Observational_studies
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Risk_factors_studies
Limite:
Adolescent
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Adult
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Aged
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Child
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Am J Ophthalmol
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Espanha