ABSTRACT
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
Subject(s)
Male , Female , Child, Preschool , Child , Adolescent , Adult , Middle Aged , Humans , Color Perception , Color Vision Defects/etiology , Hermanski-Pudlak Syndrome/complications , Albinism, Oculocutaneous/classification , Albinism, Oculocutaneous/complications , Albinism, Oculocutaneous/physiopathology , Color Vision Defects/epidemiology , Color Vision Defects/genetics , Genetic Heterogeneity , Genotype , Incidence , Phenotype , Prospective Studies , Color Perception/genetics , Membrane Proteins/genetics , Carrier Proteins/genetics , Hermanski-Pudlak Syndrome/classification , Hermanski-Pudlak Syndrome/genetics , Hermanski-Pudlak Syndrome/physiopathology , Visual AcuityABSTRACT
Objetivo. Describir el caso de una adolescente femenina de 18 años de edad, la cual presentaba dos genodermatosis: albinismo oculocutáneo e ictiosis vulgar. Caso clínico. La paciente mostró retardo en el desarrollo neurológico durante su infancia. No se encontraron antecendentes de padecimiento similar en otros miembros de la familia. El diagnóstico de albinismo e ictiosis fue confirmado por el estudio de fondo de ojo y el histopatológico. El iris de la paciente era translúcido y presentaba hipopigmentación de fondo de ojo; histopatológicamente con hiperqueratosis moderada sin paraqueratosis, con formación de grandes tapones queratósicos, sin presencia de acantosis. Conclusión. El presente caso corresponde clínica e histopatológicamente a albinismo oculotáneo con ictiosis vulgar, sin antecedentes de padecimiento similar en otros miembros de la familia
Subject(s)
Humans , Female , Adolescent , Albinism, Oculocutaneous/complications , Albinism, Oculocutaneous/diagnosis , Albinism, Oculocutaneous/physiopathology , Albinism/complications , Albinism/diagnosis , Albinism/physiopathology , Ichthyosis/complications , Ichthyosis/diagnosis , Ichthyosis/physiopathologyABSTRACT
Se presenta la historia de dos hermanas de seis y once años de edad, portadoras de un albinismo óculo-cutáneo, que desarrollaron en diferentes períodos melanomas de curso fatal, lo que evidencia que esta enfermedad, aún en la infancia, debe considerarse agresiva y tratarse después del diagnóstico, con la radicalidad que impone la malignidad
Subject(s)
Humans , Female , Albinism, Oculocutaneous/complications , Child , Melanoma/complications , Skin Neoplasms/complications , Melanoma/genetics , Skin Neoplasms/geneticsABSTRACT
Five types of oculocutaneous albinism and two types of ocular albinism were found among 349 Puerto Rican albinos. The most prevalent type of albinism was the Hermansky-Pudlak syndrome (HPS). HPS was observed in five of every six albinos in Puerto Rico. The prevalence of HPS was highest in the northwestern quarter of the island, affecting approximately one in 1,800 persons, and approximately one in 22 are carriers of the gene. HPS is an autosomal recessively inherited triad of a tyrosinase-positive type of albinism, a hemorrhagic diathesis due to storage pool deficient platelets and accumulation of ceroid in tissues. The pigmentary phenotype of HPS albinos resembled that of any other type of oculocutaneous or ocular albinism. The most reliable method of diagnosing HPS is by a deficiency of platelet dense bodies observed by electron microscopy. The accumulation of ceroid in the tissues is associated with fibrotic restrictive lung disease and granulomatous enteropathic disease. The enteropathic disorder resembles Crohn's disease and with few exceptions, had its onset after 13 years of age. The major causes of death were fibrotic restrictive pulmonary disease, hemorrhagic episodes and sequelae of granulomatous enteropathic disease. Menometrorrhagia was common in women with HPS. No immune deficiency was found in HPS patients. The majority of patients with HPS had visal acuities of 20/200 or worse and consequently were legally blind. Albinos of all types, including HPS, lacked binocular...