Choroidal, macular and ganglion cell layer thickness assessment in Caucasian children measured with spectral domain optical coherence tomography.

PURPOSE: To study the subfoveal choroidal thickness (SFCT), macular ganglion cell layer (GCL-IPL) and central macular thickness (CMT) in Caucasian children, and to analyze these optical coherence tomography (OCT) parameters depending on the spherical equivalent (SE). METHODS: Cross-sectional study of SFCT, GCL-IPL, and CMT in Caucasian children, analyzed with spectral-domain OCT Cirrus 5000 and Enhanced-depth imaging technique. Correlation between these three OCT parameters, age, sex, and spherical equivalent was analyzed. The eyes were classified into three groups: group 1 included eyes with SE < 0, group 2 included eyes with SE between 0 and +2.00, and group 3 eyes with SE > +2.00. RESULTS: Hundred ninety-eight eyes of 121 subjects were studied. The mean age was 9.22 years (range 3-16); 61.1% were female. The mean SFCT was 351.04 ± 84.08 µm, being 310.04 ± 82.84µm in group 1 (n = 62), 373.14 ± 83.16 µm in group 2 (n = 71) and 365.18 ± 73.16 µm in group 3 (n = 65); statistically significant differences were found between groups 2 and 3, compared with group 1. GCL-IPL thickness was significantly thinner (p < 0.001) in group 1, compared with group 3. There were no statistically significant differences between the three groups regarding CMT. Correlation with age, and sex was not found. CONCLUSIONS: SFCT and GCL-IPL thickness were significantly thinner (p < 0.001) in myopic children when compared with a non-myopic pediatric population. However, it seems that there is not a correlation among the three OCT parameters studied, age and sex, when they are analyzed depending on refractive error.

Muckle-Wells Syndrome: A Case Report with an NLRP3 T348M Mutation.

Autoinflammatory syndromes are a recently described group of conditions caused by mutations in multiple genes that code for proteins of the innate immune system. Cryopyrin-associated periodic syndromes are autoinflammatory diseases comprising three clinically overlapping disorders: familial cold urticaria syndrome, Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease. MWS is characterized by a moderate phenotype with fever, rash, arthralgia, conjunctivitis, sensorineural deafness, and potentially life-threatening amyloidosis. We report a 5-year-old girl with MWS that manifested as a recurrent skin rash without fever episodes or intracranial hypertension with papilledema. Genetic analysis revealed a T348M mutation of the NLRPR 3 gene in the patient and her mother. She was successfully treated with the interleukin-1ß antagonist receptor anakinra.