RESUMO
Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 singleton cases of idiopathic congenital nystagmus (28 male, 14 females) yielded three mutations (7%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability.
Assuntos
Proteínas do Citoesqueleto/genética , Genes Ligados ao Cromossomo X , Proteínas de Membrana/genética , Nistagmo Congênito/genética , Encéfalo/embriologia , Encéfalo/metabolismo , Mapeamento Cromossômico , Cromossomos Humanos X , Proteínas do Citoesqueleto/fisiologia , Movimentos Oculares/genética , Movimentos Oculares/fisiologia , Feminino , Regulação da Expressão Gênica no Desenvolvimento , Ligação Genética , Humanos , Masculino , Proteínas de Membrana/fisiologia , Mutação/fisiologia , Linhagem , Retina/metabolismoRESUMO
Cases of ocular inflammation following penetration by urticating hairs from caterpillars and tarantulas have been previously reported and although rare, the condition is increasingly being recognised as a cause of chronic panuveitis. The long-term outcomes and prognosis of this condition are not well known. This article describes a case of chronic panuveitis as a result of ocular penetration by tarantula setae, and its challenging management that ultimately required pars plana vitrectomy. Interventional case report: A 29-year-old male presented with chronic panuveitis secondary to tarantula-hair penetration. Initial management with mechanical removal of hairs from the cornea and intensive topical steroid therapy for 18 months did not adequately control his symptoms. Pars plana vitrectomy was carried out and at 6-month follow-up the patient was symptom-free without any pharmacological therapy. We propose early pars plana vitrectomy as a management option for treatment-resistant panuveitis in cases of ophthalmia nodosa secondary to setae-related injury.
Assuntos
Corpos Estranhos no Olho/cirurgia , Ferimentos Oculares Penetrantes/cirurgia , Pan-Uveíte/cirurgia , Sensilas/lesões , Aranhas , Vitrectomia , Adulto , Animais , Doença Crônica , Corpos Estranhos no Olho/etiologia , Ferimentos Oculares Penetrantes/etiologia , Humanos , Masculino , Pan-Uveíte/etiologia , Acuidade Visual/fisiologiaRESUMO
PURPOSE: To describe the clinical features in a series of patients with poststreptococcal uveitis and to review literature on the pathophysiology and management. DESIGN: Retrospective and descriptive case series. PARTICIPANTS: Ten consecutive cases of poststreptococcal syndrome uveitis diagnosed between 1996 and 2003. METHODS: Review of patient case notes. MAIN OUTCOME MEASURES: Age, laterality, clinical features, and anti-streptococcal lysin O titers. RESULTS: Ten consecutive cases of poststreptococcal syndrome uveitis were identified. All our cases had bilateral nongranulomatous inflammation and raised anti-streptococcal lysin O titers. Collating data from previous reports and this series showed that 96% of the patients were below 40 years of age, and 87.5% had evidence of previous streptococcal infection. One third of the patients had posterior segment involvement. In our patients, this was in the form of vitritis, focal retinitis, optic disc swelling, and multifocal choroiditis. CONCLUSIONS: Poststreptococcal syndrome uveitis should be considered in the etiology of acute bilateral nongranulomatous uveitis in children and young patients.