- 期刊
- OpenAccess
X-Linked Retinitis Pigmentosa: Case Report and Genetic Science's Relevance Remark
性染色體遺傳之色素性視網膜炎：家族病例報告及基因研究之關連
摘要
色素性視網膜炎乃一經由遺傳而產生之漸進性視網膜退化性疾病，其遺傳方式有三種，分別是體染色體顯性，隱性以及性染色體遺傳，而其中以性染色體遺傳之色素性視網膜炎在比例上最爲少見，但其臨床表徵及預後最爲嚴重，在本土的文獻中，此類家族病例之臨床報告以及發生率之統計並不多見（以中央圖書館之期刊光碟1970.1-1998.6查詢），在這篇報告中，我們呈現一個本土之三代，二十個病人及帶病者的家族病例以及近年來基因學在性染色體遺傳之色素性視網膜炎中遺傳因子的內在機制的發現。另外，在文獻中指出，以ERG和EOG來對obligate carrier做篩選，可得到更好的效果，而在本土發生率的統計上，則有待進一步的調查研究來確認。
關鍵字
無資料並列摘要
We presented a case report of a three-generation family with retinitis pigmentosa (XLRP-FEH001; fig. 1). The pedigree indicated an X-linked recessive mode of inheritance of disease, as presented with severely affected men, no male-to-male transmission, and clinically asymptomatic obligate female carriers. Here we also discuss the different trait expressivity within the same pedigree, evolution and prognosis of the entity with relevance remark of the recent genetic science research and the importance of screening for the carriers in risk during genetic counselling. No definite effective treatment was proposed at the moment, nightscope and low-vision aids may provide some degree of assistance.
延伸閱讀
- 詹詩昀（2011）。視網膜母細胞瘤之基因診斷與遺傳諮詢〔碩士論文，國立臺灣大學〕。華藝線上圖書館。https://doi.org/10.6342/NTU.2011.00949
- Chou, F. C., Lu, C. C., Cheng, C. Y., & Liu, C. J. (2008). X染色體性聯遺傳先天性角化不全症患者之病例報告－DKC1基因新突變點的辨識. 臺灣口腔顎面外科學會雜誌, 19(1), 26-35. https://doi.org/10.7104/TJOMS.200803.0026
- Lin, M. H. (2014). 染色質結構與基因表現量於藥物反應之關聯性研究 [master's thesis, National Chung Cheng University]. Airiti Library. https://www.airitilibrary.com/Article/Detail?DocID=U0033-2110201613595955
- 洪瑞襄（2016）。親本基因型於染病同胞對罕見變異關聯檢定之重要性〔碩士論文，國立臺灣大學〕。華藝線上圖書館。https://doi.org/10.6342/NTU201602390
- Hung, J. Y., & Fang, I. M. (2014). Recoverin抗體相關之視網膜病變：病例報告及文獻回顧. 中華民國眼科醫學會雜誌, 53(1), 48-54. https://www.airitilibrary.com/Article/Detail?DocID=10213120-201406-201407210005-201407210005-48-54