ALBINISM , definition, Inheritance, Biochemical Basis,Types, complexions snd Precautions.

Albinism simple PowerPoint presentation for Medical Students. Albino people.
Albinism, its cause, symptoms, inheritance, types, precautions, Biochemical Basis. Picture of Albert Einstein is given to relate with ALBinism as ALBert Einstein. Because Einstein had white skin and white hairs. Just to clear, Einstein didn't had Albinism!

1. ALBINISM By Muhammad Bilal Akbar Roll no 153

2. Learning Objectives Overview Definition Inheritance Biochemical Basis Types Complexions Precautions

3. Alb ert Einste in

4. Definition Hypopigmentation ALBINISM is a congenital condition in which there is decreased pigmentation of body/ deficiency of melanin in skin,hair and eyes It can be partial or complete absence of pigmentation

5. Inheritance Autosomal Recessive (primary mode) Autosomal Dominant X-linked

6. Types ALBINISM Oculocutaneous Albinism Ocullar Albinism

7. Oculocutaneous Albinism Absence of pigmentation/melanin in EYES, SKIN and HAIR Further Types OCA 1 (severe) OCA 2 (Moderate to minimal) OCA 3 (Minimal) OCA 4 (same phenotype as OCA 2) Tyrsinase Negative Oculocutaneous Albinism Absent or defective copper containing Tyrosinase Most severe form of Albinism

8. Biochemical Basis Mutation in melanosome Defective transport system of melanin Melanin is formed from TYROSINE, controlled by enzyme Tyrosinase – Mutation in gene coding for Tyrosinase TYROSINE M MELANIN Tyrosinase

9. Ocullar Albinism Absence of Melanin/pigment in EYES only Within eyes…. IRIS

10. Complexions Melanin absorbs harmful UV rays(also IR rays and visible light) and protects cells from sun damage Absence of Melanin causes skin sensitive to too much sunlight Vision defects and photophobia (sunlight hurt their eyes) – absence of Melanin in IRIS Increased risk for skin cancer

11. Precautions Avoiding too much Sunlight Wearing clothes covering complete body Using Sunglasses to protect eyes

12. Thank You