Andy Drackley, Hantamalala Ralay Ranaivo, Valerie Allegretti, Alexander Y Ing, Safa Rahmani, Michael P Blair, Michael J Shapiro, Brenda L Bohnsack, Jennifer L Rossen
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引用次数: 0
Abstract
Objective: To characterize and compare our cohorts of pediatric patients with type I and type II Sticker syndrome, with a focus on ophthalmological features.
Design: Retrospective cohort study.
Subjects: Twenty-six patients (22 families) with clinical and genetic diagnoses of types I or II Stickler syndrome.
Methods: Review of clinical notes and molecular diagnoses.
Main outcome measures: Ophthalmic and systemic features and responses to laser treatment.
Results: Our cohorts had an equal number of patients with COL2A1-related/Type I and COL11A1-related/Type II Stickler syndrome (n=13; 50%) and include 12 previously unpublished variants. Patients in Type I and II cohorts had similar average ages at presentation and length of follow-up. There were more self-identifying Hispanic patients among the Type II cohort compared to Type I (69% versus 39%, p = 0.145). Individuals with Type II on average had significantly higher myopia compared to those with Type I (p=0.008). Retinal detachment in at least one eye was diagnosed in 39% of the Type I cohort (7 eyes, 5 patients) and 46% of the Type II (7 eyes, 6 patients). Laser prophylaxis was utilized in 69% of patients with Type I and 85% with Type II. Unilateral retinal detachment following laser prophylaxis occurred in one patient with Type I and two with Type II. All identified COL2A1 variants in the Type I cohort are expected to cause disease through haploinsufficiency, and 92% of COL11A1 variants in the Type II cohort are presumed to be in-frame and exert a dominant negative effect, consistent with historical reporting.
Conclusions: The proportion of Types I and II Stickler syndrome are equal in our pediatric population, and patients self-identifying as Hispanic comprised the majority of Type II, supporting the need for additional study of possible under-detection of Type II in diverse populations. Our Type II cohort showed higher myopia and incidence of Pierre Robin sequence, and similar rates of retinal detachment and systemic manifestations compared to the Type I cohort. Our datasets provide important data regarding the safety and short-term effectiveness of laser prophylaxis, but larger and longer-term studies are needed, especially for those with Type II Stickler syndrome.
目的比较 I 型和 II 型 Sticker 综合征儿科患者的特征,重点关注眼科特征:设计:回顾性队列研究:临床和基因诊断为 I 型或 II 型 Stickler 综合征的 26 名患者(22 个家庭):方法:回顾临床笔记和分子诊断:眼部和全身特征以及对激光治疗的反应:我们的队列中,COL2A1相关/I型和COL11A1相关/II型Stickler综合征患者的数量相同(n=13;50%),其中包括12个以前未发表的变异。I型和II型患者的平均发病年龄和随访时间相似。与 I 型相比,II 型组群中有更多自我认同的西班牙裔患者(69% 对 39%,P = 0.145)。与 I 型患者相比,II 型患者的平均近视度数明显更高(p=0.008)。I 型患者中有 39% (7 只眼睛,5 名患者)和 46% (7 只眼睛,6 名患者)至少有一只眼睛被诊断为视网膜脱离。69%的 I 型患者和 85% 的 II 型患者采用了激光预防措施。一名 I 型患者和两名 II 型患者在接受激光预防治疗后发生了单侧视网膜脱离。I型队列中所有已确定的COL2A1变体预计都会通过单倍体缺陷致病,II型队列中92%的COL11A1变体被推测为框架内变体,并产生显性负效应,这与历史报告一致:结论:在我们的儿科人群中,I型和II型Stickler综合征的比例相当,自认为是西班牙裔的患者占II型患者的大多数,这说明有必要对不同人群中可能存在的II型检出不足的情况进行更多研究。与 I 型人群相比,我们的 II 型人群显示出更高的近视率和皮埃尔-罗宾序列发病率,以及相似的视网膜脱离率和全身表现。我们的数据集提供了有关激光预防的安全性和短期有效性的重要数据,但还需要进行更大规模和更长期的研究,尤其是针对 II 型 Stickler 综合征患者的研究。