无脉络膜症与回旋状脉络膜视网膜萎缩的鉴别与早期诊断

Identification and early diagnosis of choroideremia and gyrate atrophy

无脉络膜症和回旋状脉络膜视网膜萎缩是两种遗传性原发性脉络膜视网膜萎缩疾病。二者的中晚期眼底病变具特征性，临床鉴别问题并不突出，但早期的临床表现和眼科检查结果却不够典型，有诸多相似之处，不易鉴别。然而，早期诊断对于疾病的治疗和预防子代患病意义重大。因此，如能深入了解两种疾病的异同，尽早确立诊断，进而选择合适的干预策略，包括遗传咨询，则很可能获得更好的个体预后和社会效益。

Choroideremia and gyrate atrophy are two kinds of heritage primary retino-choroidal atrophy diseases. At advanced stage, their typical fundus lesions are conductive to identification. However, early diagnosis and intervention, which lead to improved prognosis and genetic benefits, are hindered by some similar clinical manifestation and optical examine results. Therefore, it is meaningful for ophthalmologists to have a comprehensive understand of these two diseases, and provide early diagnosis and proper intervention including genetic eonsulation.