遺伝性Schnyder角膜変性症に伴ったバセドー病の父娘例

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Hereditary crystalline corneal dystrophy of Schnyder, in which cholesterol or cholesterol ester deposit in the centers of the bilateral corneas, is rare, and co-existed frequently with familial hyperlipidemia and/or hyperlipoproteinemia, Xanthelasma or active genu valgum. We report two cases of Graves' disease and another three subjects in a family who have abnormal thyroid hormone concentrations accompanied with Schnyder's corneal dystrophy.<BR>Case 1: A 48-year-old man was referred for studying the relation between the corneal turbidity and the hormonal dysfunction. He had noticed a decreased bilateral visual acuity several years ago. He was diagnosed with Schnyder's corneal dystrophy because of deposits of white crystalline-like substances in his corneas. Both a son and two daughters had similar opaque corneas with in a few years. From last year, he had a fine hand tremor, but no difficulties in his working. His serum levels of T3, free T4 (FT4) and TSH were 3.5 pmol/L, 39.7 pmol/L and less than 0.4 mU/L, respectively, and TRAb was positive. He was diagnosed with Graves' disease, and then treated with an oral anti-thyroid drug (300 mg/d of Methimazole).<BR>Case 2: A 14-year-old girl (the eldest daughter of the subject in Case 1) developed the bilateral Schnyder's corneal dystrophy within a few years. When her father began treatment for Graves' disease, her thyroid hormone concentrations were almost within normal ranges except for less than 0.4 mU/L of TSH. One year later, she suddenly had a palpitation, nausea and a swelling of the anterior neck, and was referred to a pediatric hospital. Her serum levels of T3 and FT were 3.3 pmol/L and 75 pmol/L, and TRAb and TSAb were positive. She was also diagnosed with Graves' disease and then treated with an anti-thyroid drug (150 mg/d of PTU). In his family, the father, a son and two daughters had Schnyder's corneal dystrophy, and co-existing genu valgum, congenital coxal luxation, or hyperlipoproteinemia. The Graves' disease was occurred in Case 1 and 2, and the other cases had partly elevated concentrations of thyroid hormones and TSH level. The cases of Graves' disease or other thyroid disease accompanying with hereditary Schnyder's corneal dystrophy, however, have not been reported. Although they had similar HLA typings, A24 (9) in locus A, BW52 (5) or BW61 (40) in locus B, CW3 in locus C, and DR9 in locus DR, no specific TSH receptor gene was found in all subjects.<BR>This is a first report of the occurrence of Graves' disease with the hereditary Schnyder's corneal dystrophy.
一般社団法人日本内分泌学会の論文

遺伝性Schnyder角膜変性症に伴ったバセドー病の父娘例

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