Fan Jason, da Cruz Natasha Ferreira Santos, Fan Kenneth C, Negron Catherin I, Amescua Guillermo, Grajewski Alana L, Chang Ta C, Berrocal Audina M
Department of Ophthalmology, Bascom Palmer Eye Institute, Miami, FL, USA.
Am J Ophthalmol Case Rep. 2023 Sep 26;32:101931. doi: 10.1016/j.ajoc.2023.101931. eCollection 2023 Dec.
To report a case of Axenfeld-Rieger and Stickler Syndrome in a pediatric patient.
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 and genes, leading to the concurrent diagnoses of Axenfeld-Rieger and Stickler syndromes.
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.
报告一例小儿患者患阿克森费尔德-里格尔综合征和斯蒂克勒综合征的病例。
一名3个月大的男性在被发现双眼眼压升高后被转诊至青光眼诊所。他的家族病史值得注意，其母系家族有婴儿型青光眼，父系家族有视网膜脱离病史。他被发现双眼存在前段发育异常，伴有虹膜条索、虹膜角膜粘连和瞳孔异位，以及双眼有面纱样玻璃体。他需要双眼进行小梁切开术、前房角切开术和多次植入贝尔维尔德特青光眼引流管以控制眼压。此外，该患者后来双眼发生累及黄斑的视网膜脱离，需要行玻璃体视网膜手术联合硅油填充。基因分析证实了 基因和 基因均存在杂合致病性变异，从而同时诊断出阿克森费尔德-里格尔综合征和斯蒂克勒综合征。
这是一例罕见的同时患有阿克森费尔德-里格尔综合征和斯蒂克勒综合征的患者。前后段病变的严重程度需要多学科协作的方法。在先天性眼病的诊断评估中，如果对于某一特定诊断有非典型发现的强烈家族史，则应考虑并排除同时存在的综合征。在这些病例中，全面的眼部基因检测可能是一种有用的工具。
