Scanelli G, Dattola L, Padovani F
Divisione di Medicina Generale Arcispedale Sant'Anna, Ferrara, Italy.
J Endocrinol Invest. 1996 Mar;19(3):170-4. doi: 10.1007/BF03349861.
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.
视网膜色素变性（RP）患者由于光感受器和视网膜色素上皮的变性与增生，会出现夜盲、视野受限和视力下降的症状。在意大利，其患病率为1:4000。已经描述了一些“综合征性”关联，特别是与甲状腺功能减退的关联，但相关研究的病例很少。我们描述了一个四代共40人的家族，其中记录到存在常染色体显性RP，并伴有自身免疫性甲状腺功能减退或循环抗甲状腺自身抗体（ATA），目前认为这是自身免疫性甲状腺炎的表现或该疾病的一个危险因素。我们对所有成员测量了促甲状腺激素（TSH）、游离三碘甲状腺原氨酸（FT3）、游离甲状腺素（FT4）、抗甲状腺球蛋白和抗甲状腺过氧化物酶自身抗体。对每个受试者都进行了眼底检查以及颈部前部区域的仔细检查。还研究了100名健康人的对照人群。我们的数据显示，与对照人群和文献数据相比，RP患者及其亲属中ATA的患病率更高，具有统计学意义（40人中13例 = 32.5%；p < 0.01）。3例患有RP和ATA的患者患有临床明显的甲状腺功能减退。10例患有ATA的患者临床甲状腺功能正常；8例患有RP的患者在研究时未显示循环ATA。这种“综合征性”视网膜营养不良引起医生的关注，反映了从我们的数据中得出的需求，即对RP患者及其家庭成员进行甲状腺功能检测，因为循环ATA被认为是自身免疫性甲状腺功能减退发展的一个危险因素。
