Ultra-Wide Field Fundus Autofluorescence Imaging of Eyes With Stickler Syndrome

Fujimoto, Kazushi; Nagata, Tatsuo; Matsushita, Itsuka; Oku, Kazuma; Imagawa, Mamika; Kuniyoshi, Kazuki; Hayashi, Takaaki; Kimoto, Katsuhiko; Ohji, Masahito; Kondo, Hiroyuki

doi:10.1097/iae.0000000000002879

Cited by 6 publications

(4 citation statements)

References 20 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In the multimodal imaging obtained in one patient with SS (patient no 2), we observed thinned retina and decreased retinal vascularization in the eye after PPV with silicone oil. Predominantly hypofluorescent fundus autofluorescence images with hypofluorescent lesions along vessels and in the periphery in the untreated with PPV are similar to those described by Fujimoto in the large series of SS patients [27].…”

Section: Discussionsupporting

confidence: 82%

Results of surgical management of the retinal detachment in pediatric patients with Marfan and Stickler syndrome

Czarnek-Chudzik

Toro²,

Lesiuk³

et al. 2022

Ophthalmol J

View full text Add to dashboard Cite

this article is available in open access under Creative Common attribution-Non-Commercial-No derivatives 4.0 International (CC BY-NC-Nd 4.0) license, allowing to download articles and share them with others as long as they credit the authors and the publisher, but without permission to change them in any way or use them commercially IntroductIonMarfan and Stickler syndromes are rare multisystem disorders with manifestations typically involving the skeletal and ocular systems.Stickler syndrome (SS) is an inherited progressive disorder of collagen connective tissues described first in 1965 (Stickler, 1965). It may be expressed by various symptoms, e.g., orofacial defects (cleft palate, micrognathia, and midface flattening), conductive and/or sensorineural hearing loss, and ocular abnormalities (nonprogressive high myopia, vitreal abnormalities, and a high risk of retinal detachment

show abstract

Section: Discussionsupporting

confidence: 82%

Results of surgical management of the retinal detachment in pediatric patients with Marfan and Stickler syndrome

Czarnek-Chudzik

Toro²,

Lesiuk³

et al. 2022

Ophthalmol J

View full text Add to dashboard Cite

show abstract

“…Collagen molecules have a triple-helix structure in all tissues, including the skin, joints, and eyes, with the structure composed of three polypeptide chains. Currently, a total of 27 types of collagen have been identified, for which there have been 40 associated genes identified [ 3 ]. The collagen types present in cartilage and the vitreous body are types II, V, VI, IX, and XXVII [ 4 ].…”

Section: Discussionmentioning

confidence: 99%

“…An ultra-widefield fundus autofluorescence photograph (Optos® 200Tx, Optos PLC, Dunfermline, United Kingdom) revealed hyperfluorescence corresponding to radial paravascular retinal degeneration (Figures 1C , 1D ). This was clinically suspicious for Stickler syndrome [ 3 ]. In addition, swept-source optical coherence tomography (SS-OCT) (DRI OCT-1 Triton, Topcon Corp., Tokyo, Japan) did not clearly show any PPVP (Figures 1E , 1F ).…”

Section: Case Presentationmentioning

confidence: 99%

Posterior Precortical Vitreous Pocket in Stickler Syndrome: A Report of Two Cases

Nagashima,

Akiyama,

Nakamura

et al. 2024

Cureus

View full text Add to dashboard Cite

Stickler syndrome is a genetic disorder characterized by collagen abnormalities leading to various ocular manifestations, such as retinal detachment. We present two cases of siblings clinically diagnosed with Stickler syndrome who exhibited retinal detachment. Case 1, a seven-year-old girl, and case 2, her 14-yearold brother, both displayed severe myopia and other clinical signs consistent with Stickler syndrome. Despite their ages, neither case showed evidence of posterior precortical vitreous pocket (PPVP) on imaging or during surgical intervention. These findings suggest a potential relationship between collagen abnormalities and PPVP dysplasia in Stickler syndrome.

show abstract

“…In a report on Stickler syndrome over eight generations published in 2002, it was reported that radial perivascular retinal degeneration was present in 100% of patients with Stickler syndrome [12]. However, in a study using ultra-wide field fundus autofluorescence imaging in 2020, radial perivascular retinal degeneration was not found in more than 50% of cases [35]. In particular, retinal findings in Stickler syndrome showed an increase with age in a degenerative pattern, suggesting that young Stickler syndrome patients may not meet the diagnostic criteria.…”

Section: Discussionmentioning

confidence: 99%

Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1

Choi

Woo

et al. 2021

Genes

View full text Add to dashboard Cite

Stickler syndrome is an inherited connective tissue disorder of collagen. There are relatively few reports of East Asian patients, and no large-scale studies have been conducted in Korean patients yet. In this study, we retrospectively analyzed the genetic characteristics and clinical features of Korean Stickler syndrome patients. Among 37 genetically confirmed Stickler syndrome patients, 21 types of gene variants were identified, of which 12 were novel variants. A total of 30 people had variants in the COL2A1 gene and 7 had variants in the COL11A1 gene. Among the types of pathogenic variants, missense variants were found in 11, nonsense variants in 8, and splice site variants in 7. Splicing variants were frequently associated with retinal detachment (71%) followed by missense variants. This is the first large-scale study of Koreans with Stickler syndrome, which will expand the spectrum of genetic variations of Stickler syndrome.

show abstract

Ultra-Wide Field Fundus Autofluorescence Imaging of Eyes With Stickler Syndrome

Abstract: Supplemental Digital Content is Available in the Text. We studied 46 eyes with Stickler syndrome using ultra-widefield fundus autofluorescence images. Abnormal autofluorescence lesions were found in 81% of the eyes that were associated with age-related alteration and visual field defects.

Cited by 6 publications

References 20 publications

Results of surgical management of the retinal detachment in pediatric patients with Marfan and Stickler syndrome

Results of surgical management of the retinal detachment in pediatric patients with Marfan and Stickler syndrome

Posterior Precortical Vitreous Pocket in Stickler Syndrome: A Report of Two Cases

Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1

Contact Info

Product

Resources

About