Oculo-cutaneous albinism standard I

The oculo-cutaneous albinism standard I is a genetic disease in connection with a defect of synthesis of the Mélanine. It is the most serious form of the oculo-cutaneous albinisms and corresponds to the form negative tyrosinase.

Oculo-cutaneous albinism is characterized by a reduced synthesis of the Mélanine in the skin, the hair and the eyes associated with ocular anomalies like: Nystagmus, reduction in the pigmentation of the iris and the Retina, a hypoplasy of the Fovea and a siginficative reduction in the vision. The way of the Optical nerve is abnormal and is accompanied by Strabisme and a reduction in the stereoscopic vision. The individuals reached have grey hair, a white skin which do not bronze and a translucent iris which does not sink with the age. With the birth, the newborn has grey hair or yellows very blades which sink with time, a white skin with sometimes the appearance of pigmentary spots and possibility of bronzing to the sun and a green or maroon blue iris becoming. The vision can be of 20/60 or superior.

Oculo-cutaneous albinism standard I is divided into oculo-cutaneous albinism standard IA without any synthesis of mélanine in fabrics and oculo-cutaneous albinism standard IB with a variable synthesis of mélanine.

The diagnosis is made on the private clinic. The description of a change of the Gène TYR is used for the genetic council and the detection of the carriers.

Sources

Richard has King, Oculocutaneous Albinism Type 1 In GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2005

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