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一、序言遗传性视网膜脉络膜变性疾患虽多见,但原因不明,无治疗方法,未受到重视。Simell等(1973)曾报告高鸟氨酸血症并发回旋形视网膜脉络膜萎缩,此后回旋形视网膜脉络膜萎缩为新的氨基酸代谢异常疾患之一而引起注意。已明确本症系由于鸟氨酸酮酸转氨酶(ornithine ketoacid transaminase OKT)活性不足以至缺乏而引起的,并继续对眼科及生化学的改变加以解释。关于本症最近之研究,计有Takki,Francois之综述及水野在日本眼科总会之特殊讲演。1980年11月在美国芝加哥、1981年9月在耶路撒冷、1982年4月在美国国立卫生研究所(NIH)召开了专题
First, the preamble Inherited retinal choroidal degeneration disease is more common, but the reason is unknown, no treatment, have not been taken seriously. Simell et al. (1973) reported that ornithine hyperchromia complicated with atrophic choroidal atrophy, after which retinal choroidal atrophy was noted as one of the new disorders of amino acid metabolism. It has been clarified that this condition is caused by a deficiency or deficiency of ornithine ketoacid transaminase OKT and continues to explain ophthalmological and biochemical changes. A recent study of this disease includes a review by Takki and Francois and a special presentation by Mizuno at the Japan Ophthalmology Society. 1980 November in Chicago, USA, September 1981 in Jerusalem, April 1982 in the United States National Institutes of Health (NIH) held a special topic