Abstract：
OBJECTIVE: To report a previously undescribed finding of peripapillary hyperreflective ovoid mass-like structures (PHOMS) in Stickler syndrome.
METHODS: Noncomparative case series.
METHODS: 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.
METHODS: 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 360o 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.
BACKGROUND: Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
METHODS: Noncomparative case series.
METHODS: 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.
METHODS: 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 360o 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.
BACKGROUND: Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
摘要：
目的：报告之前未描述的Stickler综合征乳头周围高反射卵形团状结构（PHOMS）设计：非比较病例系列主题：参与者，和/或对照:来自11名Stickler综合征患者的22只眼异常视盘被鉴定和成像。
方法：干预，或测试：根据视盘玻璃疣研究协会的共识建议，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扫描均使用海德堡光谱(海德堡工程，海德堡,德国)具有密集的水平光栅(15×10°，97节）以视神经头部为中心，由两名独立评估员进行分级。如果有分歧,图像由第三位评估员进行分级.还使用EDI-OCT和自发荧光评估任何共存的视盘玻璃疣的存在。
方法：PHOMS的存在，临床特征和基因突变。
结果：对来自11名Stickler综合征患者的22只眼的表型视盘异常进行鉴定和成像。8例患者为女性，3例为男性。平均年龄为31岁（13-58岁）。在成像眼睛的91%(n=20只眼睛)中存在PHOMS。70％（n=14眼）为1型Stickler综合征，30％（n=6眼）为2型Stickler综合征。5％（n=1眼）发生视网膜脱离，75％（n=15眼）经历了360度预防性视网膜脱离。患有PHOMS的眼睛中有41％（n=9）存在于并存的听力损失患者中，而13.6％（n=3）的口面表现为Stickler裂形式的Stickler综合征。75％（n=15眼）的PHOMS患者报告关节松弛或关节炎症状。没有发现共存的视盘玻璃疣，并且在神经系统检查后也排除了颅内压升高。
结论：这些数据表明，PHOMS是Stickler综合征患者的新发现，在评估这些患者的视神经时应予以考虑。
方法：干预，或测试：根据视盘玻璃疣研究协会的共识建议，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扫描均使用海德堡光谱(海德堡工程，海德堡,德国)具有密集的水平光栅(15×10°，97节）以视神经头部为中心，由两名独立评估员进行分级。如果有分歧,图像由第三位评估员进行分级.还使用EDI-OCT和自发荧光评估任何共存的视盘玻璃疣的存在。
方法：PHOMS的存在，临床特征和基因突变。
结果：对来自11名Stickler综合征患者的22只眼的表型视盘异常进行鉴定和成像。8例患者为女性，3例为男性。平均年龄为31岁（13-58岁）。在成像眼睛的91%(n=20只眼睛)中存在PHOMS。70％（n=14眼）为1型Stickler综合征，30％（n=6眼）为2型Stickler综合征。5％（n=1眼）发生视网膜脱离，75％（n=15眼）经历了360度预防性视网膜脱离。患有PHOMS的眼睛中有41％（n=9）存在于并存的听力损失患者中，而13.6％（n=3）的口面表现为Stickler裂形式的Stickler综合征。75％（n=15眼）的PHOMS患者报告关节松弛或关节炎症状。没有发现共存的视盘玻璃疣，并且在神经系统检查后也排除了颅内压升高。
结论：这些数据表明，PHOMS是Stickler综合征患者的新发现，在评估这些患者的视神经时应予以考虑。
