Stickler's syndrome is a connective-tissue disease of autosome dominant inheritance. This report concerns a 3-year-old girl with Stickler's syndrome who underwent arthroplasty under general anesthesia. After slow induction of anesthesia with an inhalation anesthetic, neither a oropharyngeal airway nor a laryngeal mask airway fitted her, and mask ventilation and endotracheal intubation became difficult. Endotracheal intubation was performed not with a muscle relaxant but under deep anesthesia. Care should be taken when planning anesthesia for a case of this syndrome because airway management is often difficult and emergency surgery for detached retinas might be required.
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Clin Exp Ophthalmol
January 2025
Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Hereditary vitreoretinopathies (HVRs), also known as hereditary vitreoretinal degenerations comprise a heterogeneous group of inherited disorders of the retina and vitreous, collectively and variably characterised by vitreal abnormalities, such as fibrillary condensations, liquefaction or membranes, as well as peripheral retinal abnormalities, vascular changes in some, an increased risk of retinal detachment and early-onset cataract formation. The pathology often involves the vitreoretinal interface in some, while the major underlying abnormality is vascular in others. Recent advances in molecular diagnosis and identification of the responsible genes and have improved our understanding of the pathogenesis, risks and management of the HVRs.
View Article and Find Full Text PDFOrphanet J Rare Dis
January 2025
Ophthalmology Department, Centro Hospitalar e Universitário de Coimbra (CHUC), Hospitais da Universidade de Coimbra (HUC), ULS Coimbra, Praceta Prof. Mota Pinto, 3000-075, Coimbra, Portugal.
Background: Syndromic genetic disorders affecting vision can also cause hearing loss, and Usher syndrome is by far the most common etiology. However, many other conditions can present dual sensory impairment. Accurate diagnosis is essential for providing patients with genetic counseling, prognostic information, and appropriate resources.
View Article and Find Full Text PDFJ 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 and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois; Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, Illinois. Electronic address:
Objective: To characterize and compare our cohorts of pediatric patients with types I and II Stickler syndrome, with a focus on ophthalmic features.
Design: Retrospective cohort study.
Subjects: Twenty-six patients (22 families) with clinical and genetic diagnoses of type I or II Stickler syndrome.
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