Download/Embed scientific diagram | Árbol genealógico de la familia con albinismo óculo-cutáneo de tipo 1 donde se muestran los individuos que portan las. Oculocutaneous albinism type 1 (OCA1) is characterized by hypopigmentation of the skin and hair and the distinctive ocular changes found in. Oculocutaneous albinism is a genetically heterogeneous congenital disorder characterized by decreased or absent pigmentation in the hair, skin, and eyes.
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ALBINISMO OCULOCUTANEO DOWNLOAD
Only comments written in English can be processed. Oculocutaneous albinism type 1A OCA1A is the most severe form of OCA see this termwhere no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.
Patients have white skin and hair at birth. Irises are blue to pink and fully translucent.
These features do not change throughout a patient’s life. Nystagmus may be present at birth or it may develop in the first 3 to 4 months of life. It continues throughout life but usually slows down after childhood and is less noticeable when a person is relaxed and well rested. The reduction in visual acuity is associated with foveal hypoplasia.
Severe photophobia is common. Nevi and ephelids are common but are unpigmented and pink. Patients do not tan, and if proper sun protection methods are not followed, skin becomes rough, coarse, thickened and can have solar keratoses. Patients have an increased risk of developing basal and squamous cell carcinomas but melanomas are rare.
The mutation leads to a completely inactive or incomplete tyrosinase enzyme polypeptide. Melanocytes contain no melanin, as without this enzyme the melanin biosynthetic pathway is blocked. The characteristic clinical findings along with confirmatory genetic testing are used to diagnose OCA1A.
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Ophthalmologic examination reveals visualization of the choroidal blood vessels, reduced retinal pigment and foveal hypoplasia. Alternating strabismus, reduced stereoscopic vision, and an altered visual evoked albiniemo VEP are associated with the characteristic misrouting of the optic nerves at the chiasm.
Oculocutanso genetic testing is usually necessary to make the correct diagnosis of subtype. Annual ophthalmologic examination is necessary and corrective lenses or glasses are given to improve visual acuity. Dark glasses may be needed to relieve photophobia. Strabismus surgery can be performed for functional or cosmetic reasons.
Protection from sunlight is imperative and patients should wear clothing and sunscreen on exposed skin to prevent burning and reduce the risk of skin cancer. Annual skin examinations should also be performed to identify any pre-cancerous or cancerous lesions. OCA1A is not life threatening, unless malignancies develop, and remains stable after childhood. The medical and social consequences can oculocutneo have major impacts on a patient’s daily life.
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ALBINISMO OCULOCUTANEO DOWNLOAD
Summary and related texts. Check this box if you wish to receive a copy of your message. Disease definition Oculocutaneous albinism type 1A OCA1A is oculocutqneo most severe form of OCA see this oculocuhaneowhere no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.
InfancyNeonatal ICD Clinical description Patients have white skin and hair at birth. Diagnostic methods The characteristic clinical findings along with confirmatory genetic testing are used to diagnose OCA1A.
Antenatal diagnosis Prenatal testing is possible for at risk pregnancies by molecular genetic testing. Genetic counseling This disorder is inherited autosomal recessively and genetic counseling is available. Management and treatment Annual ophthalmologic examination is necessary and corrective lenses or glasses are given to improve visual acuity.
Prognosis OCA1A is not life threatening, unless malignancies develop, and remains stable after childhood.
Detailed information Article for general public Svenska Professionals Summary information Polskipdf Guidance for genetic testing Englishpdf Clinical genetics review English Additional information Further information on this disease Classification s 4 Gene s 1 Clinical signs and symptoms Other website s 3.
Health care resources for this disease Expert centres Diagnostic tests 49 Patient organisations 38 Orphan drug s 0. Specialised Social Services Eurordis directory. The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.