Clinical Spectrum and Geographic Distribution of Keratitis Fugax Hereditaria Caused by the Pathogenic Variant c.61G>C in NLRP3.

PURPOSE: To chart clinical findings in individuals with keratitis fugax hereditaria (KFH) and the geographic distribution of their ancestors. DESIGN: A prospective cross-sectional study. METHODS: This study took place in a tertiary referral center with a cohort of 84 Finnish patients (55% female) from 25 families with the pathogenic nucleotide-binding domain, leucine-rich repeat (NLR) family pyrin domain containing 3 (NLRP3) variant c.61G>C. Observation procedures and main outcome measures were 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%, 46/60) experienced their first attack between age 6 and 20 years. Three-quarters had unilateral attacks 3 to 5 times annually, primarily triggered by cold wind or air, or stress. Eighty percent (48/60) reported ocular pain (median, 7 on scale 1-10), conjunctival injection, photophobia, foreign body sensation, and tearing during attacks. Visual blur occurred in 75% (45/60) and 91% (55/60) during and after the attack, respectively, for a median of 10 days (range, 1 day-2 months). Forty-seven percent (39/60) 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 vary widely between individuals. We recommend scleral contact lenses as the first-line treatment for reduced vision. Allele frequencies suggest that KFH goes unrecognized in Sweden and populations with Scandinavian heritage.

Ab Interno Trabeculotomy: Key Prognostic Factors.

PRéCIS:: The preoperative factors associated with a decreased survival rate of ab interno trabeculotomy (AbIT) perfomed using a Trabectome in open-angle glaucoma were selective laser trabeculoplasty (SLT) performed previously and axial length (AL) over 23.82 mm. PURPOSE: The purpose of this study was to find preoperative factors that predict outcomes of AbIT by a Trabectome. MATERIALS AND METHODS: This retrospective single-center cohort study involved consecutive patients with primary open-angle glaucoma and exfoliation glaucoma treated at Helsinki University Hospital with AbIT with preoperative intraocular pressure (IOP) ≥18 mm Hg and follow-up of at least 1 year. Success was defined as lowering of their IOP by at least 20% from baseline or reduction in glaucoma medications without any rise in IOP above baseline, and no subsequent glaucoma surgery. RESULTS: Of the total 72 eyes of 67 patients, 51 eyes had exfoliation glaucoma and 21 had primary open-angle glaucoma. Mean preoperative IOP was 25.2±5.3 mm Hg, with a mean of 3.2±1.2 glaucoma medications. In the multivariable model, a history of preoperative SLT and higher preoperative AL had hazard ratios of 2.99 [95% confidence interval (CI): 1.26-7.10] and 1.53 (95% CI: 1.12-2.09) with statistical significance (P=0.013 and 0.007). The statistically significant cutoff point was 23.82 mm in AL in relation to the success rate, with success times taken into account (P<0.001). AL over 23.82 mm had hazard ratio of 5.75 (95% CI: 2.57-12.87, P<0.001). CONCLUSION: Previous SLT and AL over 23.82 mm reduce survival after AbIT.

The effect of language immersion education on the preattentive perception of native and non-native vowel contrasts.

Proficiency in a second language (L2) may depend upon the age of exposure and the continued use of the mother tongue (L1) during L2 acquisition. The effect of early L2 exposure on the preattentive perception of native and non-native vowel contrasts was studied by measuring the mismatch negativity (MMN) response from 14-year-old children. The test group consisted of six Finnish children who had participated in English immersion education. The control group consisted of eight monolingual Finns. The subjects were presented with Finnish and English synthetic vowel contrasts. The aim was to see whether early exposure had resulted in the development of a new language-specific memory trace for the contrast phonemically irrelevant in L1. The results indicated that only the contrast with the largest acoustic distance elicited an MMN response in the Bilingual group, while the Monolingual group showed a response also to the native contrast. This may suggest that native-like memory traces for prototypical vowels were not formed in early language immersion.