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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.
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最新影响因子:5.488 | 期刊ISSN:0002-9394 | CiteScore:3.64 |
出版周期:Monthly | 是否OA:YES | 出版年份:1884 |
期刊官方网址:http://www.ajo.com/
自引率:6.80% | 研究方向:医学-眼科学 |
出版地区:UNITED STATES |
SCI期刊coverage:Science Citation Index Expanded(科学引文索引扩展)
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The American Journal of Ophthalmology is a peer-reviewed, scientific publication directed to ophthalmologists and visual science specialists describing clinical investigations, clinical observations, and clinically relevant laboratory investigations related to ophthalmology.
《美国眼科杂志》是一份经过同行评审的科学刊物,面向眼科医生和视觉科学专家,描述与眼科相关的临床调查、临床观察和临床相关实验室调查。
大类(学科) | 小类(学科) | 学科排名 |
医学 |
OPHTHALMOLOGY (眼科学) 2区 |
6/59 |
年度总发文量 | 年度论文发表量 | 年度综述发表量 |
263 | 259 | 4 |
引文计数(2018)
文献(2015-2017)
4576次引用
1257篇文献
序号 | 类别 | 排名 | 百分位 |
1 |
大类(学科):Medicine
小类(学科):Ophthalmology
|
#4/108
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研究方向:医学 眼科学
审稿时间: 4个月内
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研究方向:青光眼
审稿时间: 2个月内 接受率: 比较困难(25%命中)
liting7111
研究方向:眼眶病
接受率: 比较困难(25%命中)
影响因子:1.714
ISSN:1386-2073
研究方向:化学-生化研究方法
影响因子:6.088
ISSN:1933-7213
研究方向:医学-神经科学
影响因子:1.379
ISSN:0362-5664
研究方向:医学-临床神经学
影响因子:4.287
ISSN:1473-7175
研究方向:CLINICAL NEUROLOGY-PHARMACOLOGY & PHARMACY
影响因子:1.821
ISSN:1528-4336
研究方向:医学-传染病学
影响因子:2.385
ISSN:1120-009X
研究方向:医学-药学
影响因子:2.706
ISSN:1076-6294
研究方向:医学-传染病学
影响因子:4.177
ISSN:1178-6973
研究方向:-
影响因子:5.758
ISSN:0305-7453
研究方向:医学-传染病学
发表一篇学和医学成像类SCI论文
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