Choo Charlene H, Boto de Los Bueis Ana, Chung Doug D, Aldave Anthony J
Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, CA; and.
Department of Ophthalmology, La Paz University Hospital, Madrid 28046, Spain .
Cornea. 2022 Jun 1;41(6):779-781. doi: 10.1097/ICO.0000000000002828. Epub 2021 Aug 5.
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.
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.
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.
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.
本研究旨在报告在一个先前未报道的点状和多色性前弹力层下角膜营养不良（PPPCD）家系中对过氧化物酶体增殖物激活受体3（PRDX3）和含PDZ结构域蛋白8（PDZD8）进行筛查的结果，以证实PRDX3突变c.568G>C是PPPCD的遗传基础。
对先证者及其患病父亲进行裂隙灯生物显微镜眼科检查。采集先证者的唾液作为DNA来源，随后对PRDX3和PDZD8进行筛查。
裂隙灯检查显示，先证者双眼角膜前弹力层下均有弥漫性分布的多色性沉积物，晶状体前囊下也有沉积物。先证者的父亲双眼也有弥漫性前弹力层下多色性沉积物，但晶状体无沉积物。对先证者的PRDX3筛查显示存在先前与PPPCD相关的c.568G>C（p.Asp190His）变异，且未在PDZD8中鉴定出任何变异。
我们首次证实PRDX3是一个先前未报道家系中PPPCD的遗传基础，并将PPPCD的表型扩展至包括多色性晶状体沉积物。
