Results 61 to 70 of about 2,006 (156)
Abstract Purpose Ophthalmology encompasses comprehensive medical and surgical care for patients with diverse visual system disorders, significantly impacting eye health, vision, and quality of life. European ophthalmologists undergo specialized residency training to acquire necessary competencies, emphasizing theoretical knowledge, clinical and ...
Helena Prior Filipe +70 more
wiley +1 more source
Saul Wilson Syndrome: A Case Report With New Features in Saudi Arabia
ABSTRACT Saul Wilson syndrome is an extremely rare genetic disorder caused by heterozygous de novo mutations in the COG4 gene. We report the first case from Saudi Arabia with previously unreported facial dysmorphic features, expanding the known phenotypic spectrum and emphasizing the importance of recognizing phenotypic variability in rare disorders.
Saad A. Bin Owaimer +4 more
wiley +1 more source
Rare Coexistence of Monilethrix and Trichorrhexis Nodosa in a Pediatric Patient: A Case Report
ABSTRACT Monilethrix is a rare genetic disorder characterized by sparse, brittle hair, primarily affecting the scalp, although it may also affect other parts of the body. Trichorrhexis nodosa (TN) is another hair shaft disorder characterized by brittle and fragile hair shafts. Concurrence of monilethrix and TN is exceedingly rare.
Yasamin Dehghan, Mozhdeh Sepaskhah
wiley +1 more source
Chinese Guidelines for Diagnosis and Treatment of Chronic Rhinosinusitis (2024)
ABSTRACT Chronic rhinosinusitis (CRS), a complex inflammatory disease with heterogeneous pathogenesis, demands evolving evidence‐based strategies. Since the 2018 Chinese guidelines and EPOS2020, international advances in CRS immunopathology and biologics have revolutionized therapeutic approaches, particularly through phenotype–endotype classification ...
Subspecialty Group of Rhinology +4 more
wiley +1 more source
ATAD3 duplications bridge mitochondrial diseases and Aicardi–Goutières syndrome
ATAD3 locus duplications cause a severe neonatal mitochondrial disorder with neuroimaging features resembling interferonopathies, and suggest a mitochondrial nucleic acid‐triggered interferon response. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16446 Abstract A recurrent 68‐kb heterozygous duplication of the ATAD3 locus ...
Pauline Planté‐Bordeneuve +26 more
wiley +1 more source
Background Pediatric trauma can lead to serious visual impairment as a result of the trauma itself or secondary to amblyopia. Precise data on epidemiological characteristics and visual outcomes of pediatric ocular injuries are valuable for the prevention
Edita Puodžiuvienė +3 more
doaj +1 more source
Management of retroflexion of iris – A rare sequelae following blunt trauma
Blunt ocular trauma can cause a spectrum of injuries, including rare condition like retroflexion of the iris, where the iris folds back on itself. This case report describes a 14-year-old boy who presented with defective vision in his right eye 2 months ...
Allapitchai Fathima +3 more
doaj +1 more source
Principal components′ analysis of multifocal electroretinogram in retinitis pigmentosa
Aims : To determine waveforms of multifocal electroretinogram (mfERG) in patients with retinitis pigmentosa (RP) contributing significantly to the overall retinal response by using principal components′ analysis.
Aniruddha Maiti +4 more
doaj +1 more source
Penetrating keratoplasty in children: results of surgical treatment
Penetrating keratoplasty (PK) in children is a complex and ultifacetedproblem that has been experiencing pediatric ophthalmology for several decades With all its radicality and with all its therapeutic potential, most surgeons prefer, nevertheless, to ...
A. V. Pleskova +2 more
doaj +1 more source
Macular hole in Behçet′s disease
Objective: To investigate the clinical features, prevalence, role of surgical intervention and the visual prognosis of macular holes (MH) in patients with Behcet′s disease (BD).
Hassan Al-Dhibi +6 more
doaj +1 more source

