Gajová H, Rehůrek J, Smrzová M
Dĕtská ocní klinika FN, Brno.
Cesk Slov Oftalmol. 2000 Sep;56(5):325-9.
Hallgren syndrome is a hereditary disease with autosomal recessive inheritance. Its exact genetic background has not been elucidated so far. From the clinical aspect is comprises association of retinitis pigmentosa, atrophy of the optic nerve, nystagmus and congenital hearing damage combined with neurological and psychiatric symptoms. The authors describe two siblings with the clinical picture of this syndrome. It is a finding not published so far in the Czech literature.
霍尔格伦综合征是一种常染色体隐性遗传的遗传性疾病。其确切的遗传背景至今尚未阐明。从临床角度来看,它包括色素性视网膜炎、视神经萎缩、眼球震颤和先天性听力损害,并伴有神经和精神症状。作者描述了两名具有该综合征临床表现的兄弟姐妹。这是捷克文献中迄今尚未发表的一项发现。