PDF(Pubmed)
Abstract：
OBJECTIVE: 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.
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.
摘要：
目的：本研究的目的是报告在先前未报道的具有点状和多色前Descemet角膜营养不良（PPPCD）的家系中筛选过氧化物酶3（PRDX3）和含PDZ结构域的蛋白8（PDZD8）的结果，以确认PRDX3突变c.568G>C是PPPCD的遗传基础。
方法：先证者及其患病父亲的眼科检查用裂隙灯生物显微镜进行。从先证者中收集唾液作为DNA来源，之后进行PRDX3和PDZD8的筛选。
结果：先证者的裂隙灯检查显示，在双眼晶状体的角膜和前囊下，多色沉积物均扩散分布在Descemet前水平。先证者的父亲还在两只眼睛中显示出弥漫性的脱粘前多色沉积物，但没有透镜状沉积物。先证者中PRDX3的筛选证明了c.568G>C（p。Asp190His）的变体先前与PPPCD相关，并且未能在PDZD8中鉴定出任何变体。
结论：我们报告了PRDX3作为PPPCD的遗传基础的初步确认，在以前未报告的谱系中，并扩大了PPPCD的表型，包括多色透镜状沉积物。
方法：先证者及其患病父亲的眼科检查用裂隙灯生物显微镜进行。从先证者中收集唾液作为DNA来源，之后进行PRDX3和PDZD8的筛选。
结果：先证者的裂隙灯检查显示，在双眼晶状体的角膜和前囊下，多色沉积物均扩散分布在Descemet前水平。先证者的父亲还在两只眼睛中显示出弥漫性的脱粘前多色沉积物，但没有透镜状沉积物。先证者中PRDX3的筛选证明了c.568G>C（p。Asp190His）的变体先前与PPPCD相关，并且未能在PDZD8中鉴定出任何变体。
结论：我们报告了PRDX3作为PPPCD的遗传基础的初步确认，在以前未报告的谱系中，并扩大了PPPCD的表型，包括多色透镜状沉积物。
