ABSTRACT
The purpose of this report is to summarize an understanding of the ocular motor system in patients with albinism. Other than the association of vertical eccentric gaze null positions and asymmetric, [a] periodic alternating nystagmus in a large percentage of patients, the ocular motor system in human albinism does not contain unique pathology, rather has "typical" types of infantile ocular oscillations and binocular disorders. Both the ocular motor and afferent visual system are affected to varying degrees in patients with albinism, thus, combined treatment of both systems will maximize visual function
Subject(s)
Humans , Albinism/diagnosis , Albinism/therapy , Eye Movements , Nystagmus, PathologicABSTRACT
Chediak Higashi anomaly is a very rare disorder in which patients suffer frequent and severe pyogenic infections that are secondary to abnormal functions of polymorphonuclear leukocytes, associated with albinism and bleeding tendency. Blume RS and Wolff SM (1972) reported that only 59 cases were diagnosed after the first description of Chediak-Higashi Syndrome in 1943 by Cesar AB (cited by Wintrobe MM Clinical Haematology). As per recent literature available (Internet) last case was reported on 16th July, 1997.
Subject(s)
Albinism/diagnosis , Chediak-Higashi Syndrome/diagnosis , Child , Female , Humans , Neutrophils/pathologyABSTRACT
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
Albinismo ocular e uma condicao congenita na qual a deficiencia de pigmento localiza-se no olho. O maior defeito ocular associado ao albinismo e a reducao da acuidade visual. Dentre os achados caracteristicos esta a fotofobia, nistagmo, erros refracionais severos, estrabismos, hipopigmentacao da iris e do fundo de olho. O artigo enfoca a importancia do diagnostico precoce pelo pediatra e orienta atraves de relato de um caso o manejo do albinismo ocular no sentido do desenvolvimento adequado da funcao visual e consequentemente de melhor qualidade de vida .