Boletin de la Asociacion Medica de Puerto Rico · 2004
Color vision in patients with the Hermansky-Pudlak syndrome.
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Rodríguez Julio A, Blasini Marino, Blasini Marino, Townsend William, Izquierdo Natalio J
Аннотация
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.
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.
Предметные рубрики MeSH
AdolescentAdultAlbinism, OculocutaneousCarrier ProteinsChildChild, PreschoolColor PerceptionColor Vision DefectsFemaleGenetic HeterogeneityGenotypeHermanski-Pudlak SyndromeHumansIncidenceIntracellular Signaling Peptides and ProteinsMaleMembrane ProteinsMiddle AgedPhenotypeProspective StudiesVisual Acuity