%0 Journal Article
%T Eye findings and immunological markers in probands and their euthyroid relatives from a single family with multiple cases of thyroid autoimmunity
%A Melissa Ardley
%A Thomas McCorquodale
%A Hooshang Laahooti
%A Bernard Champion
%A Jack R Wall
%J Thyroid Research
%D 2012
%I BioMed Central
%R 10.1186/1756-6614-5-4
%X We determined the prevalences of eye and eyelid signs and positive thyroid and orbital antibody tests in first and second degree relatives from a single family with multiple cases of Graves¡¯ disease, ophthalmopathy and Hashimoto¡¯s thyroiditis.The study cohort comprised 16 subjects from the same family, 4 probands namely, 3 with GD and one with Hashimoto¡¯s thyroiditis and hypothyroidism and 12 of their euthyroid first or second degree relatives. We measured antibodies against calsequestrin (CASQ1) and collagen XIII in an enzyme-linked-immunosorbent assays and TSH-Receptor (TSH-R) antibodies as i) TSH-R binding inhibiting immunoglobulin (TBII) and ii) thyroid stimulating immunoglobulin (TSI). Eye signs were classified and quantified using the clinical activity score (CAS), NOSPECS classes, Nunery types 1 and 2 and the margin-reflex-distance (MRD) as a measure of upper eyelid retraction (UER).Whilst significant ophthalmopathy was uncommon in the relatives, mild eye signs, in particular UER, were demonstrated in about a third of them. The presence of eye signs was moderately, but not significantly, associated with the detection of CASQ1 and collagen XIII antibodies, but not TSH-R antibodies.Our study demonstrates a significant prevalence of positive orbital antibody tests and ophthalmopathy in probands with thyroid autoimmunity and their euthyroid relatives, favouring a role of genetic factors in the development of ophthalmopathy in patients with thyroid autoimmunity.
%K Thyroid autoimmunity
%K Ophthalmopathy
%K Graves¡¯ disease
%K Genetics
%K Euthyroid relatives
%K Calsequestrin
%U http://www.thyroidresearchjournal.com/content/5/1/4/abstract