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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Increased risk of autoimmune hypothyroidism in patients affected by retinitis pigmentosa.

Patients with Retinitis Pigmentosa ( RP) show hemeralopia, restricted field of vision and reduced visual acuity, owing to the degeneration and proliferation of photoreceptors and a retinal pigment epithelium. The prevalence in Italy is 1:4,000. A certain number of "syndromic" associations have been described, and, in particular, also that with hypothyroidism, but very few cases have been studied. We describe a family of 40 people, spanning four generations, in which we have recorded the presence of autosomic dominant RP, associated with autoimmune hypothyroidism or with circulating antithyroid autoantibodies (ATA), currently considered as the expression of active autoimmune thyroiditis or a risk factor for this complaint. We measured, in all members, TSH, FT3, FT4, antithyroglobulin and antithyroperoxidase autoantibodies. A fundus oculi examination was performed in every subject, as well as a careful examine of the anterior region on the neck. A control population of 100 healthy people was also studied. Our data show a higher prevalence of ATA, statistically significant, in the patients with RP and in their relatives, compared with the control population and the data from the literature (13 cases over 40 = 32.5%; p < 0.01). 3 patients with RP and ATA were affected by clinically evident hypothyroidism. 10 patients with ATA were clinically euthyroid; 8 patients affected by RP did not show circulating ATA at the time of the study. The interest for the physician in this "syndromic" retinal distrophy reflects the need, emerging from our data, to test the thyroid function in the subjects with RP and in members of their families, since circulating ATA are considered a risk factor for the development of autoimmune hypothyroidism.[1]


  1. Increased risk of autoimmune hypothyroidism in patients affected by retinitis pigmentosa. Scanelli, G., Dattola, L., Padovani, F. J. Endocrinol. Invest. (1996) [Pubmed]
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