Ophthalmology science · 2026
Multimodal Imaging of Fundus Abnormalities in Stickler Syndrome: Characterization of 15 Distinct Features Using Ultra-Widefield Swept-Source OCT Angiography.
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Hu Yarou, Cui Kaixuan, Wu Zhenquan, Li Jiani, Zhang Sihui, Luo Xiayuan, He Honghui, Cheng Xiaorong, Ying Guishuang, Zhao Xinyu, Zhang Guoming
Аннотация
PURPOSE: To roundly characterize fundus features of Stickler syndrome using multimodal imaging and address the gap in imaging evidence for retinal detachment (RD).
DESIGN: A cohort study.
PARTICIPANTS: This study included 25 eyes from 13 patients with Stickler syndrome at an outpatient clinic between January 2025 and January 2026.
METHODS: Basic data were collected using cycloplegic refraction and IOLMaster 700, and multimodal imaging was performed using scanning laser ophthalmoscopy and ultra-widefield (UWF) swept-source (SS) OCT angiography (OCTA).
MAIN OUTCOME MEASURES: Three ophthalmologists independently documented and then consolidated the manifestations and detection rate of all fundus abnormalities. Statistical analysis was performed using SPSS 27.0.
RESULTS: Among patients, 15 distinct features were identified, and most had detection rates >50%. Vitreous abnormalities were most common: opacities (100%), liquefaction pockets (92%), lamellation (92%), and punctate dense granules (92%). Most vitreoretinal and retinal features had detection rates >75%, whereas intraretinal cystoid spaces (50%), retinal breaks (33%), and RD (8%) were lower, likely because of the young age. Detection rates of foveal hypoplasia (FH) (75%), foveal avascular zone (FAZ) absence (46%), and fingerprint sign (17%) decreased sequentially. Pitted retinal surface (P = 0.04) and RD (P = 0.008) were significantly positively correlated with AL. The fundus features exhibit age-related trends and a tendency for internal correlation. Moreover, vitreous lamellation and liquefaction pockets (P < 0.05), vitreous anchoring and vitreoretinal traction (P < 0.05), and FAZ presence and FH (P < 0.01) showed significant correlations.
CONCLUSIONS: This study used UWF SS-OCTA to systematically characterize fundus phenotypes of Stickler syndrome. Among the 15 identified features, vitreous abnormalities were the most prevalent. We provide in vivo imaging evidence that vitreous anchoring may be a key trigger for retinal breaks and detachment in Stickler syndrome, likely acting through vitreoretinal traction. Its concealment beneath the vitreous fibrous strands may offer a potential theoretical basis for improving targeted prophylaxis and treatment. The other features, such as pitted retinal surface and FH-related macular signs, may serve as imaging biomarkers, aiding early and efficient diagnosis or risk stratification.
FINANCIAL DISCLOSURES: The authors have no proprietary or commercial interest in any materials discussed in this article.
DESIGN: A cohort study.
PARTICIPANTS: This study included 25 eyes from 13 patients with Stickler syndrome at an outpatient clinic between January 2025 and January 2026.
METHODS: Basic data were collected using cycloplegic refraction and IOLMaster 700, and multimodal imaging was performed using scanning laser ophthalmoscopy and ultra-widefield (UWF) swept-source (SS) OCT angiography (OCTA).
MAIN OUTCOME MEASURES: Three ophthalmologists independently documented and then consolidated the manifestations and detection rate of all fundus abnormalities. Statistical analysis was performed using SPSS 27.0.
RESULTS: Among patients, 15 distinct features were identified, and most had detection rates >50%. Vitreous abnormalities were most common: opacities (100%), liquefaction pockets (92%), lamellation (92%), and punctate dense granules (92%). Most vitreoretinal and retinal features had detection rates >75%, whereas intraretinal cystoid spaces (50%), retinal breaks (33%), and RD (8%) were lower, likely because of the young age. Detection rates of foveal hypoplasia (FH) (75%), foveal avascular zone (FAZ) absence (46%), and fingerprint sign (17%) decreased sequentially. Pitted retinal surface (P = 0.04) and RD (P = 0.008) were significantly positively correlated with AL. The fundus features exhibit age-related trends and a tendency for internal correlation. Moreover, vitreous lamellation and liquefaction pockets (P < 0.05), vitreous anchoring and vitreoretinal traction (P < 0.05), and FAZ presence and FH (P < 0.01) showed significant correlations.
CONCLUSIONS: This study used UWF SS-OCTA to systematically characterize fundus phenotypes of Stickler syndrome. Among the 15 identified features, vitreous abnormalities were the most prevalent. We provide in vivo imaging evidence that vitreous anchoring may be a key trigger for retinal breaks and detachment in Stickler syndrome, likely acting through vitreoretinal traction. Its concealment beneath the vitreous fibrous strands may offer a potential theoretical basis for improving targeted prophylaxis and treatment. The other features, such as pitted retinal surface and FH-related macular signs, may serve as imaging biomarkers, aiding early and efficient diagnosis or risk stratification.
FINANCIAL DISCLOSURES: The authors have no proprietary or commercial interest in any materials discussed in this article.