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find Keyword "遗传性眼病" 3 results
  • 视网膜色素变性合并青光眼5例

    本文报告了视网膜色素变性合并青光眼患者5例,其中男性2例,女性3例。视网膜色素变性的发病年龄为15~33岁,平均年龄为20.8岁;青光眼的发病年龄23~51岁,平均年龄37.6岁;青光眼的类型:闭角型青光眼4例,开角型青光眼1例。本文就视网膜色素变性的遗传及视网膜色素变性合并青光眼的发病机理等问题进行了讨论。 (中华眼底病杂志,1992,8:183-184)

    Release date:2016-09-02 06:36 Export PDF Favorites Scan
  • 蜂巢状视网膜营养不良一例

    Release date:2018-09-18 03:28 Export PDF Favorites Scan
  • Interpretation of Expert consensus on diagnosis and treatment of choroideremia (2024)

    Choroideremia (CHM) is a rare inherited eye disease that leads to blindness. It is caused by pathogenic variants in the CHM gene and exhibits X-linked recessive inheritance. Affected males present with progressively worsening night blindness, visual field loss, and decreased central vision, which can cause blindness in middle age. Although female carriers typically exhibit mild symptoms, it is essential to understand their clinical features for early diagnosis of patients as well as genetic counseling of family members. Currently, the recognition and diagnosis rates of CHM among ophthalmologists in various regions and levels of hospitals in China still need to be improved. A standardized clinical pathway is needed to meet the diagnostic and treatment needs of patients. Led by the the Chinese Hereditary Ocular Disease Diagnosis and the Treatment Group and the Chinese Hereditary Ocular Disease Alliance, based on existing evidence both domestically and internationally, the Expert consensus on diagnosis and treatment of choroideremia (2024) has been compiled, systematically and comprehensively elaborating on the standardized clinical pathways for CHM. Interpreting the key points of this consensus will help highlight its core points and ideas, enhancing the standardization and effectiveness of the diagnosis and treatment of CHM by ophthalmologists from all levels of hospitals.

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