PURPOSE

To chart clinical findings in individuals with keratitis fugax hereditaria (KFH) and geographic distribution of their ancestors.

DESIGN

A prospective cross-sectional study.

METHODS

Setting: Tertiary referral center. Patient population: 84 Finnish patients (55% female) from 25 families with the pathogenic NLRP3 variant c.61G>C. Observation Procedures and Main Outcome Measures: Sanger sequencing, clinical examination, corneal imaging, and a questionnaire regarding symptoms, quality-of-life, treatment, and comorbidities.

RESULTS

The oldest members in each family were born in Ostrobothnia in Western Finland or in Southwestern Finland with historical ties to Sweden. One carrier was asymptomatic. Most (77%) experienced their first attack between 6 and 20 years of age. Three quarters had unilateral attacks 3-5 times annually, primarily triggered by cold wind or air, or stress. Eighty percent reported ocular pain (median, 7 on scale 1-10), conjunctival injection, photophobia, foreign body sensation, and tearing during attacks. Visual blur occurred 75% and 91% during and after the attack, respectively, for 1 day to 2 months (median, 10 days). Forty-seven percent had corneal oval opacities with irregular tomography patterns and mild to moderate decrease (20/60 or better) in best-corrected visual acuity that improved with scleral contact lenses. Except for headache in 40%, systemic symptoms were absent during the attacks.

CONCLUSIONS

Symptoms and signs of KFH are restricted to the anterior segment of the eye, and they vary widely between individuals. We recommend scleral contact lenses as first-line treatment for reduced vision. Allele frequencies suggest that KFH goes unrecognized in Sweden and populations with Scandinavian heritage.

中文翻译：

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NLRP3中致病变异c.61G>C引起的一过性角膜炎的临床谱和地理分布

目的

绘制一过性角膜炎 (KFH) 患者的临床发现及其祖先的地理分布。

设计

一项前瞻性横断面研究。

方法

地点：三级转诊中心。患者人群：来自 25 个家庭的 84 名芬兰患者（55% 女性），具有致病性NLRP3变异 c.61G>C。观察程序和主要结果测量： Sanger 测序、临床检查、角膜成像以及关于症状、生活质量、治疗和合并症的问卷。

结果

每个家庭中最年长的成员都出生在芬兰西部或芬兰西南部，与瑞典有着历史渊源。一名携带者无症状。大多数 (77%) 在 6 至 20 岁之间经历了第一次发作。四分之三的人每年单方面发作 3-5 次，主要由冷风或空气或压力引发。80% 的人报告了眼痛（中位数，1-10 级中的 7 分）、结膜充血、畏光、异物感和发作时流泪。视觉模糊在发作期间和发作后分别发生 75% 和 91%，持续 1 天到 2 个月（中位数，10 天）。47% 的人有角膜椭圆形混浊，断层扫描模式不规则，最佳矫正视力轻度至中度下降（20/60 或更好），使用巩膜隐形眼镜改善。除了 40% 的头痛，

结论

KFH 的症状和体征仅限于眼前节，个体之间差异很大。我们建议将巩膜隐形​​眼镜作为视力下降的一线治疗方法。等位基因频率表明 KFH 在瑞典和具有斯堪的纳维亚血统的人群中未被承认。