Résumé
PURPOSE: To study color vision in patients with oculocutaneous albinism (OCA) METHODS: We evaluated color vision in 42 patients with OCA using the HRR color plates. Sixty seven percent of the patients had the Hermansky-Pudlak syndrome (HPS), diagnosed genetically or clinically. The remaining patients had unknown mutations leading to OCA. RESULTS: 47.6 of patients of OCA of all types included had a color vision defect. Of these, 55 were female and 45 were male patients. 50 of patients with the HPS (all types) had a color vision deficit. 42.9 of patients with OCA of unknown type had color weakness. 57.1 had normal color vision. CONCLUSIONS: Results suggest that many patients with OCA and the HPS have a mild red-green color perception deficiency that is not a sex linked trait. The prevalence of color vision deficits in our study population increased with decreasing visual acuity
Sujets)
Mâle , Femelle , Enfant d'âge préscolaire , Enfant , Adolescent , Adulte , Adulte d'âge moyen , Humains , Perception des couleurs , Troubles de la vision des couleurs/étiologie , Syndrome d'Hermanski-Pudlak/complications , Albinisme oculocutané/classification , Albinisme oculocutané/complications , Albinisme oculocutané/physiopathologie , Troubles de la vision des couleurs/épidémiologie , Troubles de la vision des couleurs/génétique , Hétérogénéité génétique , Génotype , Incidence , Phénotype , Études prospectives , Perception des couleurs/génétique , Protéines membranaires/génétique , Protéines de transport/génétique , Syndrome d'Hermanski-Pudlak/classification , Syndrome d'Hermanski-Pudlak/génétique , Syndrome d'Hermanski-Pudlak/physiopathologie , Acuité visuelleRésumé
We undertook a non-concurrent prospective study of 191 Puerto Rican patients from August 1993 to April 1994. All patients had open angle glaucoma (OAG) (age ranged from 50 to 80 yrs; mean = 65 yrs). Patient's symptomatology associated to side effects of their glaucoma medicadons was reviewed. Incidence percent of ocular and/or systemic side effects per medication were: levobunolol 45.0; betaxolol 42.0; timolol 27.3; pilocarpine 100; dipivefrin 14.0; and acetazolamide 250 mg 64.1. Incidence percent of ocular and/or systemic side effects of topical beta-blockers used with concomittant medications were determined. Ocular side effects were more frequent in patients using levobunolol 44.2 than in those patients using betaxolol 42.0, 8.5 of patients using levobunolol did report systemic side effects. No systemic side effects were reported by patients using betaxolol. Ocular side effects in patients using pilocarpine were frequent (100); whereas the frequency of systemic side effects was low (6.1). Systemic side effects were common in patients using carbonic anhydrase inhibitors. These results suggest that non-selective and cardio-selective topical Beta-blockers, differ in their ocular or systemic side effects