Stickler syndrome is a relatively rare condition (approximately 1 in 10,000), caused by a defective collagen gene and characterised by high myopia, high risk of retinal detachment and flattened facial features. An outline of the condition, its systemic and ocular manifestations and optometric management are described.
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http://dx.doi.org/10.1111/j.1444-0938.2000.tb04921.x | DOI Listing |
J Vitreoretin Dis
December 2024
Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA.
To report a case of macular chorioretinal atrophy associated with Stickler syndrome in a pediatric patient with a genetically confirmed mutation. A single case was evaluated. A 3-year-old girl was found to have macular chorioretinal atrophy in the right eye and a retinal detachment in the left eye.
View Article and Find Full Text PDFOphthalmol Retina
December 2024
Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA; Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA. Electronic address:
Objective: To characterize and compare our cohorts of pediatric patients with type I and type II Sticker syndrome, with a focus on ophthalmological features.
Design: Retrospective cohort study.
Subjects: Twenty-six patients (22 families) with clinical and genetic diagnoses of types I or II Stickler syndrome.
Genes (Basel)
November 2024
Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai 200031, China.
Objective: This study aimed to clarify the genetic diagnosis of rhegmatogenous retinal detachment (RRD) secondary to type I Stickler syndrome (STL1) and evaluate the anatomical and functional outcomes of surgical treatment.
Methods: This retrospective study included 11 patients with RRD secondary to STL1. Familial and sporadic cases of STL1 were diagnosed at the Eye & ENT Hospital, Fudan University, between 2017 and 2023.
J AAPOS
December 2024
Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami-Miller School of Medicine, Miami, Florida. Electronic address:
Stickler syndrome, a rare connective tissue disorder, presents with a broad spectrum of ocular manifestations, including myopia, vitreoretinal degeneration, glaucoma, and retinal detachment. While extensive data exists on the treatment outcomes of retinal detachment repair in Stickler syndrome, the potential risks associated with acute postoperative intraocular pressure elevation remain underexplored. We report the case of a 10-year-old boy with Stickler syndrome who underwent scleral buckling surgery and subsequently experienced ocular hypertension.
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