Clinico-epidemiologic features of oculocutaneous albinism in northeast section of Cairo - Egypt

Oculocutaneous albinism [OCA] is a genetically heterogeneous group of disorders characterized by the absence or reduced pigmentation of the skin, hair and eyes. To assess the clinico-epidemiologic features of different forms of OCA among Egyptian patients, we performed a retrospective study to determine the frequency, types, clinical presentation and associated genomic errors in albino patients and their relatives consulting the Genetics Clinic, Pediatric Hospital, Ain Shams University, Cairo, Egypt. We used the outpatients index files to identify diagnosed cases of albinism referred from the dermatologic and ophthalmologic departments with different genodermatoses over 43 year period. We used specifically designed data collection protocol forms to extract epidemiological and clinical data from the patients medical records. These were entered into a computer database and analyzed using standard statistical software. The occurrence rate of albinism in our study was 20.4% of genodermatoses patients and 1 per 5843 patients attending the Pediatric hospital. Consanguineous marriage was reported among parents of 66.37% of patients and positive family history was reported in 46.01% of patients. Complete OCA was detected in 48.59% of patients, partial albinism in 41.59% of patients and syndromic albinism was detected in 7.96%. Associated genomic errors were detected in 36.28% of our albino patients and seventy one multiple mutant genomic errors were defined among relatives of thirty seven index families of oculocutaneous albinism patients. To the best of our knowledge, this preliminary study is the first report of its kind from Egypt. The high rate of parental consanguinity among the parents of our Egyptian albino patients may account for the frequency of this genodermatosis in Egypt

Diagnóstico laboratorial do albinismo oculocutâneo / Laboratory diagnosis of oculocutaneous albinism

OBJETIVO: Avaliar os métodos laboratoriais dos diferentes tipos de albinismo oculocutâneo (OCA 1 e OCA 2) de forma descritiva e analisar sua eficiência. MATERIAL E MÉTODO: O teste do bulbo capilar é um método químico usado para distinguir as duas formas, no entanto recentemente teve sua eficácia como teste padrão contestada. O avanço da biologia molecular permite a análise das mutações que causam o distúrbio e a sua localização gênica. CONCLUSÃO: O teste do bulbo é seguro apenas para o diagnóstico do OCA 1A, podendo ser usado como complemento de um método mais apurado. A análise molecular fornece um diagnóstico definitivo, permitindo distinguir OCA 1 de OCA 2, pois as mutações afetam genes em cromossomos diferentes.

OBJECTIVES: To evaluate the laboratories methods of the oculocutaneous albinism (OCA 1and OCA 2) of descriptive form and to analyze its results. METHODS: The hair bulb test is a chemical method used to distinguish the two forms, however, recently had its effectiveness as an standard test contested. The advance of molecular biology allows the analysis of the mutations that cause the disturb and its genic location. CONCLUSIONS: The bulb test is secure only for the diagnosis of OCA 1A, being able to be used as complement of a more refined method. The molecular analysis supplies a diagnostic definitive allowing to distinguish OCA 1 from OCA 2, because the mutations affect genes in different chromosomes.

A Case of oculocutaneous albinism in a Maltese

A 4-month-old female maltese dog was admitted to Veterinary Medical Teaching Hospital of Seoul National University for evaluation of abnormal color of bilateral irises. This patient had the photophobia in the light and exhibited the complete absence of pigment resulting in white hair, pink muzzle, eyelids and foot-pads. Central zone of the irises were yellow in color influenced by tapetal reflex, and peripheral zone were pale blue. The iridal capillaries were transparented on the irises. Ophthalmoscopic examination revealed a yellow tapetal fundus but no pigment in the nontapetal fundus.

Asociación de Albinismo oculocutáneo-ictiosis / Oculocutaneous albinism and ichthyosis association

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