RESUMEN
PURPOSE: To report the cotransmission of retinitis punctata albescens (RPA) and congenital sensorineural deafness. METHODS: Case reports of two siblings with nyctalopia and profound bilateral sensorineural deafness. RESULTS: The affected siblings, an 11-year-old female and a 7-year-old male, presented with decreased visual acuity and night blindness. In both eyes of both siblings, ophthalmoscopic evaluation disclosed numerous white spots at the level of the retinal pigment epithelium with macular sparing. The rod threshold dark adaptation and electroretinogram tracings were consistent with advanced rod-cone degeneration. CONCLUSION: Two affected members of a family were found to exhibit RPA and congenital sensorineural deafness. This pedigree supports the genetic cotransmission of the traits.
Asunto(s)
Sordera/congénito , Retinitis Pigmentosa/genética , Niño , Adaptación a la Oscuridad , Sordera/complicaciones , Sordera/genética , Electrorretinografía , Femenino , Humanos , Masculino , Ceguera Nocturna/complicaciones , Ceguera Nocturna/genética , Ceguera Nocturna/patología , Linaje , Fenotipo , Epitelio Pigmentado Ocular/patología , Células Fotorreceptoras Retinianas Conos/patología , Células Fotorreceptoras Retinianas Conos/fisiopatología , Células Fotorreceptoras Retinianas Bastones/patología , Células Fotorreceptoras Retinianas Bastones/fisiopatología , Retinitis Pigmentosa/complicaciones , Retinitis Pigmentosa/patología , Agudeza VisualRESUMEN
PURPOSE: To examine the effect of aspirin use on the visual outcome of nonarteritic anterior ischemic optic neuropathy. METHODS: This retrospective case-controlled study included 23 patients who used aspirin regularly before and during the course of nonarteritic anterior ischemic optic neuropathy and 55 control patients with nonarteritic anterior ischemic optic neuropathy. Snellen visual acuity in logMAR and mean deviation on automated perimetry were compiled from the initial and final follow-up examinations. RESULTS: The comparisons of patients who took aspirin with control patients disclosed that neither initial logMAR (P = .36) nor the follow-up logMAR (P = .95) data differed significantly. There was no significant difference between the groups for the initial (P = .60) and the follow-up mean deviation (P = .41). CONCLUSIONS: Aspirin use does not improve the visual outcome of patients with nonarteritic anterior ischemic optic neuropathy. Additional studies are needed to further elucidate this issue.
Asunto(s)
Aspirina/uso terapéutico , Neuropatía Óptica Isquémica/tratamiento farmacológico , Inhibidores de Agregación Plaquetaria/uso terapéutico , Agudeza Visual/efectos de los fármacos , Anciano , Aspirina/farmacología , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neuropatía Óptica Isquémica/fisiopatología , Inhibidores de Agregación Plaquetaria/farmacología , Estudios Retrospectivos , Resultado del Tratamiento , Agudeza Visual/fisiologíaRESUMEN
PURPOSE: A pedigree comprised of five affected members is presented to demonstrate the genetic transmission of congenital superior oblique palsy. METHODS: A 2-year-old boy referred for strabismus was found to have bilateral congenital superior oblique palsy. The authors subsequently performed a complete ophthalmologic examination on all available family members to determine the inheritance pattern. The diagnosis of congenital superior oblique palsy was based on results of prism cover testing, ductions, and the Bielschowsky head tilt test, in addition to a history of early onset of symptoms and absence of preceding head trauma. RESULTS: The father, paternal grandfather, and a brother of the 2-year-old boy were found to have bilateral congenital superior oblique palsy. Evaluation of the paternal aunt showed right congenital superior oblique palsy. Bilateral absence of the superior oblique tendon was noted at the time of surgery in the 2-year-old boy. CONCLUSION: The occurrence of genetic transmission by an autosomal-dominant mode should be considered in patients with congenital superior oblique palsy.