Albinism
Albinism
- The most common cause is due to deficiency of enzyme tyrosinase leading to defective synthesis of melanin.
- Other causes are-
- Decrease in melanosomes of melanocytes
- Impairment in melanin polymerization
- Lack of protein matrix in melanosomes.
- Presence of inhibitors of tyrosinase.
- Inheritance- autosomal recessive disorder.
Types of Albinism are–
Generalised Albinism or Oculocutaneous Albinism (OCA)
- OCA-1 Tyrosinase deficient
- OCA-2 Tyrosinase positive (most common)
- OCA-3 (Rufous, red OCA)
Syndromes associated with Oculocutaneous syndrome-
- Prader willi and Angelman syndrome
- Hermansky- Pudlak syndrome
- Chediak- Higashi syndrome
Ocular Albinism-
- Ocular albinism
Localized Albinism-
- Piebaldism
- Waardenberg syndrome
Clinical features-
- Lack of melanin in albinos make them sensitive to sunshine.
- Increased chances of skin cancer.
- Photophobia
- Nystagmus
- Color of iris is pink.
Exam Question
OCA-2 tyrosinase is the most common type of albinism
- Most common cause is due to deficiency of enzyme tyrosinase leading to defective synthesis of melanin.
- Color of iris is pink.
- Syndromes associated with Oculocutaneous syndrome-
- Prader willi and Angelman syndrome
- Hermansky- Pudlak syndrome
- Chediak- Higashi syndrome
Don’t Forget to Solve all the previous Year Question asked on Albinism
