Anterior Segment Dysgenesis

眼前节发育不全
  • 文章类型: Journal Article
    目的:本研究旨在描述法国猫群中假定的遗传性或假定的品种相关眼病的流行病学和临床表现。
    方法:回顾了2013年9月至2017年8月的医疗记录,以确定猫患有至少一种遗传性或品种相关的眼部疾病。猫与并发,或历史,排除眼部或全身感染性疾病.信号,记录病史和临床表现.
    结果:在研究期间提交给我们机构的1161只猫中,129例被诊断为至少一种推测的遗传性或推测的品种相关眼病(11.1%,95%置信区间[CI]9.3-12.9)。五种眼部异常的患病率>1%:内翻,角膜隔离症,持久的瞳孔膜,白内障和视网膜发育不良。内翻的患病率为2.2%(95%CI1.3-3.0),与波斯人(P=0.03),缅因州Coons(P<0.01)和雄性猫(P<0.01)被过度代表。角膜隔离症的患病率为2.4%(95%CI1.5-3.3),波斯人(P<0.01)和异国情调的短毛线(P=0.02)被过度代表。持续的瞳孔膜和白内障的患病率相同,为2.3%(95%CI1.5-3.2),没有特定的性别或品种明显过多的代表。视网膜发育不良的患病率为1.6%(95%CI0.8-2.3),波斯猫的患病率过高(P=0.04)。前段发育不全的患病率较低(0.9%,95%CI0.4-1.5),所有受影响的猫都是家养的短跑,因此该品种的代表过多(P=0.04)。
    结论:在法国的猫中,假定的遗传性或品种相关的眼部疾病占所有眼部疾病的11.1%。白内障,角膜隔离症,持久的瞳孔膜,最常见的病症是内翻和视网膜发育不良。统计品种的过度代表性被观察到,角膜隔离和视网膜发育不良。我们建议对猫科动物进行更系统的筛选。
    This study aimed to describe the epidemiology and clinical presentation of presumed hereditary or presumed breed-related ocular diseases in a population of cats in France.
    Medical records from between September 2013 and August 2017 were reviewed to identify cats with at least one presumed hereditary or breed-related ocular disease. Cats with concurrent, or a history of, ocular or systemic infectious diseases were excluded. Signalment, history and clinical findings were recorded.
    Of the 1161 cats that presented to our institution during the study period, 129 were diagnosed with at least one presumed hereditary or presumed breed-related ocular disease (11.1%, 95% confidence interval [CI] 9.3-12.9). Five ocular abnormalities had a prevalence of >1%: entropion, corneal sequestration, persistent pupillary membrane, cataract and retinal dysplasia. The prevalence of entropion was 2.2% (95% CI 1.3-3.0), with Persians (P = 0.03), Maine Coons (P <0.01) and male cats (P <0.01) being over-represented. The prevalence of corneal sequestration was 2.4% (95% CI 1.5-3.3), with Persians (P <0.01) and Exotic Shorthairs (P = 0.02) being over-represented. Persistent pupillary membranes and cataracts had the same prevalence of 2.3% (95% CI 1.5-3.2), with no particular sex or breed significantly over-represented. Retinal dysplasia had a prevalence of 1.6% (95% CI 0.8-2.3) and Persian cats were over-represented (P = 0.04). Anterior segment dysgenesis had a low prevalence (0.9%, 95% CI 0.4-1.5), with all affected cats being domestic shorthairs and this breed therefore was over-represented (P = 0.04).
    In a French population of cats, presumed hereditary or breed-related ocular diseases accounted for 11.1% of all ocular diseases. Cataracts, corneal sequestration, persistent pupillary membrane, entropion and retinal dysplasia were the most common conditions. Statistical breed over-representation was observed for entropion, corneal sequestration and retinal dysplasia. We recommend that more systematic screening of feline species is conducted.
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  • 文章类型: Journal Article
    Primary congenital glaucoma (PCG) and anterior segment defects (ASDs) are rare ocular malformations diagnosed early in life which can cause blindness. Pathogenic variants in several genes have been linked to these conditions, but little is known about nongenetic risk factors. We investigated the association between maternal nutrition and PCG and ASDs in the National Birth Defects Prevention Study, a large population-based, multicenter case-control study of major birth defects in the United States. Mothers of cases (n = 152) and control infants without a birth defect (n = 9,178) completed an interview which included a food frequency questionnaire capturing usual dietary intake in the year before pregnancy. Maternal nutrition was assessed through individual nutrient intake, calculating a Diet Quality Index for Pregnancy (DQI-P) score for each mother, and using latent class analysis to empirically derive four dietary patterns. We calculated adjusted odds ratios (aORs) and 95% confidence intervals (CI) using logistic regression. The results for individual nutrients varied, with some having an inverse or U-shaped pattern of association with increasing intake. The DQI-P was not associated with risk of PCG and ASDs (aOR 0.91; CI 0.49-1.66, highest vs. lowest quartile). The dietary pattern analysis suggested lower odds among women with a Prudent and Mexican dietary pattern (aOR 0.82, 95% CI 0.52-1.29; aOR 0.80, 95% CI 0.36-1.78, respectively) compared to those with a Western dietary pattern. We found that higher intake of some nutrients and certain dietary patterns may be inversely associated with PCG and ASDs, though caution is urged due to imprecision of estimates.
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