色盲 3
别名(英)
Achromatopsia with myopia,Pingelapese blindness,Total colorblindness with myopia
别名
全色盲伴近视、Pingelapese盲、全色盲伴近视
统计
reviewed:1; annotated:0
交叉引用
262300,C1849792,D003117
描述(英)
An autosomal recessive, ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. Achromatopsia type 3 patients manifest severe myopia.
描述
一种常染色体隐性遗传的眼部静止性疾病，由于视网膜中没有功能性视锥细胞感光器。它的特点是完全色盲、视力低下、畏光和眼球震颤。3型色盲患者表现出严重的近视。