دورية أكاديمية
FAMILIAL EXUDATIVE VITREOTINOPATHY-LIKE FEATURES IN STICKLER TYPE IV ASSOCIATED WITH NOVEL VARIANTS IN COL9A1.
| العنوان: | FAMILIAL EXUDATIVE VITREOTINOPATHY-LIKE FEATURES IN STICKLER TYPE IV ASSOCIATED WITH NOVEL VARIANTS IN COL9A1. |
|---|---|
| المؤلفون: | Alsubaie HF; Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia., Magliyah MS, AlRaddadi O, AlZaid A, Nowilaty SR |
| المصدر: | Retinal cases & brief reports [Retin Cases Brief Rep] 2023 Mar 01; Vol. 17 (2), pp. 206-211. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wolters Kluwer Health Country of Publication: United States NLM ID: 101298744 Publication Model: Print Cited Medium: Internet ISSN: 1937-1578 (Electronic) Linking ISSN: 19351089 NLM ISO Abbreviation: Retin Cases Brief Rep Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Hagerstown, MD : Wolters Kluwer Health, c2007- |
| مواضيع طبية MeSH: | Retinal Detachment*/diagnosis , Eye Diseases, Hereditary* , Retinal Diseases*/diagnosis, Female ; Humans ; Familial Exudative Vitreoretinopathies ; Retrospective Studies ; Retina ; Fluorescein Angiography ; Collagen Type IX |
| مستخلص: | Background/purpose: To report a case of Stickler Type IV with familial exudative vitreoretinopathy phenotype. Methods: Retrospective case report. Results: A 24-year-old woman presented with right eye exotropia and decreased vision. She had no facial or typical retinal features of Stickler syndrome but complained of right-sided hearing loss and right-sided neck pain. Examination of the right eye showed a chronic combined exudative and traction retinal detachment with temporal retinal dragging associated with far temporal retinal exudations and fibrovascular proliferations. The left eye had an attached retina with large areas of peripheral temporal retinal nonperfusion on fluorescein angiography, sharply demarcated by end circulation vascular pruning and mild peripheral vascular leakage, consistent with familial exudative vitreoretinopathy phenotype. Genetic analysis identified two heterozygous c.1052C>A and c.1349A>G variants in COL9A1, but did not disclose any mutation in genes classically associated with familial exudative vitreoretinopathy. Conclusion: Familial exudative vitreoretinopathy-like retinal vascular features can be the presenting sign in patients with Stickler syndrome Type IV. |
| References: | Snead MP, Yates JR. Clinical and molecular genetics of stickler syndrome. J Med Genet 1999;36:353–359. Vu CD, Brown J Jr, Körkkö J, et al. Posterior chorioretinal atrophy and vitreous phenotype in a family with Stickler syndrome from a mutation in the COL2A1 gene. Ophthalmology 2003;110:70–77. Nikopoulos K, Schrauwen I, Simon M, et al. Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene. Invest Ophthalmol Vis Sci 2011;52:4774–4779. Van Camp G, Snoeckx RL, Hilgert N, et al. A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. Am J Hum Genet 2006;79:449–457. Katagiri S, Yokoi T, Yoshida-Uemura T, et al. Characteristics of retinal breaks and surgical outcomes in rhegmatogenous retinal detachment in familial exudative vitreoretinopathy. Ophthalmol Retina 2018;2:720–725. Ranchod TM, Ho LY, Drenser KA, et al. Clinical presentation of familial exudative vitreoretinopathy. Ophthalmology 2011;118:2070–2075. Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. Hum Mutat 2002;19:465–478. Magliyah M, Alshamrani A, Schatz P, et al. Clinical spectrum, genetic associations and management outcomes of Coats-like exudative retinal vasculopathy in autosomal recessive retinitis pigmentosa. Ophthalmic Genet 2021;42:178–185. Yuan M, Ding X, Yang Y, et al. Clinical features OF affected and undetached fellow eyes IN patients with FEVR-associated rhegmatogenous retinal detachment. Retina 2017;37:585–591. Ponsioen T, Luyn M, Worp R, et al. Collagen distribution in the human vitreoretinal interface. Invest Ophthalmol Vis Sci 2008;49:4089–4095. |
| المشرفين على المادة: | 0 (COL9A1 protein, human) 0 (Collagen Type IX) |
| SCR Disease Name: | Stickler syndrome, type 1 |
| تواريخ الأحداث: | Date Created: 20210511 Date Completed: 20230227 Latest Revision: 20230817 |
| رمز التحديث: | 20230817 |
| DOI: | 10.1097/ICB.0000000000001155 |
| PMID: | 33973556 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1937-1578 |
|---|---|
| DOI: | 10.1097/ICB.0000000000001155 |