PDF(Pubmed)
Abstract：
UNASSIGNED: To report a case of Axenfeld-Rieger and Stickler Syndrome in a pediatric patient.
UNASSIGNED: A 3-month-old male was referred to the glaucoma clinic after he was noted to have elevated intraocular pressures in both eyes. His family history was notable for infantile glaucoma on his maternal side and retinal detachment on his paternal side. He was found to have anterior segment dysgenesis with iris strands, iridocorneal adhesions, and corectopia, as well as veil-like vitreous in both eyes. He required trabeculotomy, goniotomy, and multiple Baerveldt glaucoma implants in both eyes to achieve intraocular pressure control. Furthermore, the patient later developed macula-involving retinal detachments in both eyes, requiring pars plana vitrectomy with silicone oil tamponade. Genetic analysis confirmed heterozygous pathogenic variants in both the FOXC1 and COL2A1 genes, leading to the concurrent diagnoses of Axenfeld-Rieger and Stickler syndromes.
UNASSIGNED: This is a rare case of a patient with concurrent Axenfeld-Rieger and Stickler syndromes. The severity of pathology in both the anterior and posterior segments required a collaborative multidisciplinary approach. In the diagnostic evaluation of congenital eye diseases, if there is strong family history of atypical findings for a given diagnosis, concurrent syndromes should be considered and ruled out. A comprehensive eye genetics panel may be a useful tool in these cases.
UNASSIGNED: A 3-month-old male was referred to the glaucoma clinic after he was noted to have elevated intraocular pressures in both eyes. His family history was notable for infantile glaucoma on his maternal side and retinal detachment on his paternal side. He was found to have anterior segment dysgenesis with iris strands, iridocorneal adhesions, and corectopia, as well as veil-like vitreous in both eyes. He required trabeculotomy, goniotomy, and multiple Baerveldt glaucoma implants in both eyes to achieve intraocular pressure control. Furthermore, the patient later developed macula-involving retinal detachments in both eyes, requiring pars plana vitrectomy with silicone oil tamponade. Genetic analysis confirmed heterozygous pathogenic variants in both the FOXC1 and COL2A1 genes, leading to the concurrent diagnoses of Axenfeld-Rieger and Stickler syndromes.
UNASSIGNED: This is a rare case of a patient with concurrent Axenfeld-Rieger and Stickler syndromes. The severity of pathology in both the anterior and posterior segments required a collaborative multidisciplinary approach. In the diagnostic evaluation of congenital eye diseases, if there is strong family history of atypical findings for a given diagnosis, concurrent syndromes should be considered and ruled out. A comprehensive eye genetics panel may be a useful tool in these cases.
摘要：
■报告一例儿科患者的Axenfeld-Rieger和Stickler综合征。
■一名3个月大的男性在双眼眼压升高后被转诊至青光眼诊所。他的家族史值得注意的是母亲侧的婴儿青光眼和父亲侧的视网膜脱离。他被发现有虹膜束的前段发育不全，虹膜角膜粘连,和corectopia,以及双眼中的面纱状玻璃体。他需要小梁切开术,性腺切开术,和双眼多个Baerveldt青光眼植入物以实现眼压控制。此外，患者后来双眼出现黄斑累及视网膜脱离,需要用硅油填塞进行玻璃体切割。遗传分析证实了FOXC1和COL2A1基因的杂合致病变异，导致同时诊断为Axenfeld-Rieger和Stickler综合征。
■这是一例罕见的患者并发Axenfeld-Rieger和Stickler综合征。前段和后段的病理严重程度需要多学科协作方法。在先天性眼病的诊断评估中，如果对于给定的诊断有强烈的非典型发现的家族史，应考虑并排除并发综合征。在这些情况下，全面的眼遗传学小组可能是有用的工具。
■一名3个月大的男性在双眼眼压升高后被转诊至青光眼诊所。他的家族史值得注意的是母亲侧的婴儿青光眼和父亲侧的视网膜脱离。他被发现有虹膜束的前段发育不全，虹膜角膜粘连,和corectopia,以及双眼中的面纱状玻璃体。他需要小梁切开术,性腺切开术,和双眼多个Baerveldt青光眼植入物以实现眼压控制。此外，患者后来双眼出现黄斑累及视网膜脱离,需要用硅油填塞进行玻璃体切割。遗传分析证实了FOXC1和COL2A1基因的杂合致病变异，导致同时诊断为Axenfeld-Rieger和Stickler综合征。
■这是一例罕见的患者并发Axenfeld-Rieger和Stickler综合征。前段和后段的病理严重程度需要多学科协作方法。在先天性眼病的诊断评估中，如果对于给定的诊断有强烈的非典型发现的家族史，应考虑并排除并发综合征。在这些情况下，全面的眼遗传学小组可能是有用的工具。
