施蒂克勒综合征的毛细血管周围高反射卵圆形肿块样结构。

IF 4.4 Q1 OPHTHALMOLOGY

Ophthalmology. Retina Pub Date : 2024-10-01 DOI:10.1016/j.oret.2024.05.008

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引用次数: 0

摘要

设计：非比较性病例系列对象：11 名 Stickler 综合征患者中的 22 只具有异常视盘的眼睛：参与者和/或对照组：对11名Stickler综合征患者的22只视盘异常眼进行鉴定和成像：干预或测试：根据 "视盘色素研究联盟 "的共识建议，使用增强深度成像光学相干断层扫描（EDI-OCT）对PHOMS进行分级。所有 EDI-OCT 扫描均使用海德堡 Spectralis（海德堡工程公司，德国海德堡），以视神经头为中心进行密集水平光栅（15 × 10°，97 个切面）扫描，并由两名独立评估员进行分级。如有意见分歧，则由第三位评估员对图像进行分级。此外，还使用 EDI-OCT 和自发荧光评估是否存在并存的视盘色素沉着：主要结果测量：是否存在PHOMS、临床特征和基因突变：对11名Stickler综合征患者中22只具有表型视盘异常的眼睛进行了鉴定和成像。其中 8 名患者为女性，3 名患者为男性。平均年龄为 31 岁（13-58 岁）。91%（20 眼）的成像眼存在 PHOMS。70%（14 眼）为 1 型 Stickler 综合征，30%（6 眼）为 2 型 Stickler 综合征。5%（n=1 眼）的患者出现视网膜脱离，75%（n=15 眼）的患者接受了 360o 预防性视网膜剥离术。41%（9 眼）的 PHOMS 患者同时伴有听力损失，13.6%（3 眼）的患者有腭裂形式的斯蒂克勒综合征口面部表现。75%的PHOMS患者（15眼）有关节松弛或关节炎症状。没有发现并存的视盘色素沉着，神经系统检查后也排除了颅内压升高的可能：这些数据表明，PHOMS 是斯蒂克勒综合征患者的新发现，在评估这些患者的视神经时应加以考虑。

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Peripapillary Hyperreflective Ovoid Mass-Like Structures in Stickler Syndrome

Purpose

To report a previously undescribed finding of peripapillary hyperreflective ovoid mass-like structures (PHOMS) in Stickler syndrome.

Design

Noncomparative case series.

Subjects

Twenty-two eyes with anomalous optic disc from 11 Stickler syndrome patients were identified and imaged.

Methods

Peripapillary hyperreflective ovoid mass-like structures were graded using enhanced-depth imaging OCT (EDI-OCT) according to the consensus recommendations of the Optic Disc Drusen Studies Consortium. All EDI-OCT scans were obtained using the Heidelberg Spectralis (Heidelberg Engineering) with a dense horizontal raster (15 × 10°, 97 sections) centered on the optic nerve head and graded by 2 independent assessors. In case of disagreement, the image was graded by a third assessor. The presence of any coexisting optic disc drusen was also assessed using EDI-OCT and autofluorescence.

Main Outcome Measures

The presence of PHOMS, clinical characteristics and genetic mutations.

Results

A pilot sample of 22 eyes with phenotypic optic disc abnormalities from 11 Stickler syndrome patients were identified and imaged. Eight patients were female and 3 were male. The mean age was 31 years (13–58 years). Peripapillary hyperreflective ovoid mass-like structures were present in 91% (n = 20) of imaged eyes. Seventy percent (n = 14) were type 1 Stickler syndrome and 30% (n = 6) were type 2 Stickler syndrome. All eyes were myopic and the degree of myopia did not seem to affect whether or not PHOMS was present in this cohort. One eye with PHOMS had retinal detachment, and 77.3% (n = 17) of eyes had undergone 360^o prophylactic retinopexy. Thirty-two percent (n = 7) of eyes with PHOMS were present in patients with coexisting hearing loss and 22.7% (n = 5) had orofacial manifestation of Stickler syndrome in the form of a cleft palate. Seventy-seven percent (n = 15) of eyes with PHOMS were present in patients who reported joint laxity or symptoms of arthritis. No coexisting optic disc drusen were identified and raised intracranial pressure was also excluded after neurological investigation.

Conclusions

These data suggest that PHOMS are a novel finding in Stickler syndrome patients and should be considered when evaluating the optic nerves of these patients.