中华眼科杂志
中華眼科雜誌
중화안과잡지
Chinese Journal of Ophthalmology
2013年
6期
564-567
,共4页
无脉络膜%环状萎缩%诊断,鉴别
無脈絡膜%環狀萎縮%診斷,鑒彆
무맥락막%배상위축%진단,감별
Choroideremia%Gyrate atrophy%Diagnosis,differential
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.
無脈絡膜癥和迴鏇狀脈絡膜視網膜萎縮是兩種遺傳性原髮性脈絡膜視網膜萎縮疾病.二者的中晚期眼底病變具特徵性,臨床鑒彆問題併不突齣,但早期的臨床錶現和眼科檢查結果卻不夠典型,有諸多相似之處,不易鑒彆.然而,早期診斷對于疾病的治療和預防子代患病意義重大.因此,如能深入瞭解兩種疾病的異同,儘早確立診斷,進而選擇閤適的榦預策略,包括遺傳咨詢,則很可能穫得更好的箇體預後和社會效益.
무맥락막증화회선상맥락막시망막위축시량충유전성원발성맥락막시망막위축질병.이자적중만기안저병변구특정성,림상감별문제병불돌출,단조기적림상표현화안과검사결과각불구전형,유제다상사지처,불역감별.연이,조기진단대우질병적치료화예방자대환병의의중대.인차,여능심입료해량충질병적이동,진조학립진단,진이선택합괄적간예책략,포괄유전자순,칙흔가능획득경호적개체예후화사회효익.
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 consulation.
