图1所示。眼科调查和RPGR小说变体。(一)渊源者(患者III-2;红色箭头)与恢复的影响,是他的表兄弟(III-3)。渊源者是半合在RPGR intronic变体(*),和他的母亲和姨妈是杂合的同样的变体(*),而他的弟弟没有变异的影响。已知的女性携带者(•)来表示。(B)病人III-2宫外围中期展示轻度色素的干扰图像。(C) Ultra-widefield眼底自发荧光显示狭窄环hyperautofluorescence窝和片状hypoautofluorescence分散在眼底。(D)光谱域光学相干断层扫描显示出剩余模糊椭球区中央(橙色箭头)。(E)病人III-2 RPGR c。1415 − 9A>G highlighted in red in intron 11 of RPGR (NM_000328.2). (F) In silico prediction across five programs using Alamut Visual scored above the threshold for the novel variant c.1415 − 9G>A behaving as an acceptor site. Scores were below threshold for the canonical acceptor site, indicating a potential loss of function in the presence of the novel variant. Credit:个性化医学杂志》(2022)。DOI: 10.3390 / jpm12030502