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Purpose: To report the possible connection between Stickler syndrome and floppy eyelid syndrome.
Observations: A 36-year-old man with genetically confirmed Stickler syndrome presented with prominent bilateral eyelid laxity consistent with floppy eyelid syndrome. He had a high-arched palate and reported years of apneic episodes during sleep consistent with obstructive sleep apnea (OSA).
Conclusions And Importance: To our knowledge, there have been no prior reported cases of floppy eyelid syndrome in Stickler syndrome patients. However, many patients with Stickler syndrome have palate abnormalities, which are associated with a higher risk of OSA. Given the known association between floppy eyelid syndrome and OSA, this case highlights the potential role for the ophthalmologist in identifying these patients and referring them for a sleep study if floppy eyelid syndrome is identified.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6365810 | PMC |
http://dx.doi.org/10.1016/j.ajoc.2019.01.014 | DOI Listing |
Cranio
January 2025
Pulmonary Department, Research and Training Hospital, İstanbul, Turkey.
Objective: Evaluate the relationship between OSAS and floppy eyelid syndrome [FES], along with possible confounding factors such as gender, age, and BMI.
Methods: This was a multicenter, cross-sectional prospective study. Patients referred to the sleep clinic suspected of OSAS were included in the study.
Clin Neurol Neurosurg
February 2025
Department of Neurosciences and Mental Health, Unidade Local de Saúde de Santa Maria, Lisbon, Portugal; Faculdade de Medicina-Instituto de Medicina Molecular, Centro de Estudos Egas Moniz, Universidade de Lisboa, Lisbon, Portugal.
Objective: To present cases of ptosis in HIV-1 patients on long-term antiretroviral therapy (ART) and review the existing literature.
Methods: Five HIV-1-positive patients with slowly progressive bilateral ptosis underwent a comprehensive diagnostic evaluation, including imaging studies, neurophysiological testing, muscle biopsy, and genetic analysis. A literature review was conducted.
Ophthalmic Genet
February 2025
Department of Ophthalmology, Université de Montréal, Montreal, Québec, Canada.
Introduction: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) is a recently described syndromic disease linked to genetic variants. We present a novel variant associated with a phenotype of NEDDFSA in a pediatric patient presenting with multiple anomalies including bilateral congenital ptosis and blepharophimosis, floppy eyelids, telecanthus, downward palpebral slants, myopia, cryptorchidism, hallux valgus and developmental delay.
Methods: Genetic testing performed on a large panel revealed a likely pathogenic variant in the gene (heterozygous, c.
Graefes Arch Clin Exp Ophthalmol
November 2024
Department of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Wanglang Road, Siriraj, 10700, Bangkok, Thailand.
Purpose: To investigate the intracorneal inflammation and subbasal nerve alterations in keratoconus.
Methods: This prospective cross-sectional study recruited patients with keratoconus, who were diagnosed and graded the severity based on clinical examination and Schiempflug tomography. Laser in vivo confocal microscopy (IVCM) was performed on the corneal subbasal layer centrally to explore the inflammatory cells (ICs), subbasal nerve density (SND), and nerve tortuosity.
Sci Rep
September 2024
From UCSD School of Medicine Department of Ophthalmology, Shiley Eye Institute, La Jolla, CA, USA.
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