IL-13-1112C/T was associated with IgE elevation (P = 0.044) and 2044G/A with proptosis (P = 0.02), but these associations became insignificant after Bonferroni correction (P = 0.22 and 0.10, respectively).
The patients were treated with subconjunctival triamcinolone acetonide injections monthly and evaluated pre- and post-treatment by taking measurements of the upper margin reflex distance (MRD1, the distance between the upper-lid margin and the pupil center), lid aperture, lagophthalmos and proptosis.
There were significant differences in the case of exophthalmia (P=0.002), CAS (P=0.006), and Palpebral fissure (P=0.029) between the first visit and 6 months after treatment.
In addition, targeted biologic therapies have shown promise, including teprotumumab (anti-IGFR) which appears to substantially reduce proptosis, rituximab (anti-CD20) which reduces inflammation and tocilizumab (anti-IL-6) which potentially benefits both of these parameters.
Especially, there was a significant correlation between protein expression levels of CTGF and lid oedema (p=0.037), proptosis (p=0.045) and corneal involvement (p=0.001).
Multivariate analysis (step) showed that the association of either proptosis or CAS with the PPAR gamma gene variant remained significant when age, smoking and TSH-Rab levels were taken into account (P < 0.01).
A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.