ALBINISMO OCULOCUTANEO PDF

Estudo retrospectivo com dados de 77 pacientes albinos com idade entre 1 a 53 anos de idade atendidos no Instituto Benjamin Constant, entre e A retrospective study with data from 77 patients with ocular albinism aged 1- 53 years old attended at Benjamin Constant Institute between and The most suitable optical feature is the telescope Galilleu 2. All patients reported gain vision with the resources.

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The Spanish Association of Pediatrics has as one of its main objectives the dissemination of rigorous and updated scientific information on the different areas of pediatrics. Annals of Pediatrics is the Body of Scientific Expression of the Association and is the vehicle through which members communicate.

The Impact Factor measures the average number of citations received in a particular year by papers published in the journal during the two receding years.

CiteScore measures average citations received per document published. Read more. SRJ is a prestige metric based on the idea that not all citations are the same.

SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal's impact. SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field. ISSN: Back to article. Oculocutaneous albinism 1B associated with a new mutation in the TYR gene. Hurtado b , M. Couce b ,. Corresponding author.

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ISSN Oculocutaneus albinism is a pigment-related inherited disorder characterized by hypopigmentation of the skin, hair and eyes, foveal hypoplasia and low vision. To date, mutations in the TYR gene have been reported as responsible for oculocutaneus albinism type 1 worldwide. TYR gene encodes the enzyme tyrosinase involved in the metabolic pathway of melanin synthesis. Mutations were identified in the TYR gene as responsible for oculocutaneous albinism type 1 in five Colombian individuals, and a new ophthalmic system was tested that corrected visual defects and symptoms in a patient with oculocutaneous albinism. Materials and methods.

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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. OCA1-MP is characterized by only a minimal activity of tyrosinase, leading to blond hair and white skin and an accumulation of ocular pigment that increases with age. Affected individuals show no skin or eye pigmentation and have white hair and blue irides at birth followed by minimal amounts of pigment that develop in the iris during the first decade of life. Skin nevi may be present. The mutation leads to a minimally active tyrosinase enzyme polypeptide.

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