Exploring the Genetics and Types of Albinism

This video tutorial provides an in-depth look at albinism, a genetic condition affecting melanin production. It covers the causes, subtypes, and pathophysiology of albinism, focusing on ocular cutaneous albinism (OCA) and its genetic inheritance pattern. The tutorial explains the clinical manifestations, including hypopigmentation and sensitivity to light, and discusses associated conditions like Chediak-Higashi syndrome. Diagnosis is primarily clinical, with genetic testing as an option. Treatment focuses on prevention, emphasizing skin protection and eye care. The video concludes with a call to explore further learning resources.

What is the genetic inheritance pattern of albinism?

• Autosomal dominant

• X-linked recessive

• Autosomal recessive

• Mitochondrial inheritance

Which enzyme deficiency is primarily responsible for OCA type 1?

• Melanocortin

• Phenylalanine hydroxylase

• Tyrosinase

• Tyrosine hydroxylase

What is the main consequence of tyrosinase deficiency in OCA type 1?

• Increased skin hydration

• Reduced melanin production

• Unchanged melanin levels

• Increased melanin production

Which subtype of ocular cutaneous albinism is most common worldwide?

• OCA type 1

• OCA type 2

• OCA type 4

• OCA type 3

What is the effect of tyrosinase deficiency on eye pigmentation?

• Irregular pigmentation

• No change in pigmentation

• Decreased pigmentation

• Increased pigmentation

Which ocular symptom is associated with albinism?

• Photophobia

• Glaucoma

• Cataracts

• Color blindness

What increases the risk of skin cancer in individuals with albinism?

• Overproduction of tyrosinase

• Increased melanin production

• High levels of phenylalanine

• Lack of melanin in the skin

What is the primary method for diagnosing albinism?

• Clinical diagnosis based on pigment levels

• Biopsy of skin

• Blood tests

• Genetic testing

Which protective measure is crucial for individuals with albinism?

• High protein diet

• Regular exercise

• Using sunscreen and avoiding sunlight

• Wearing thermal clothing

Which associated condition might be considered in the diagnosis of albinism?

• Parkinson's disease

• Alzheimer's disease

• Multiple sclerosis

• Chediak-Higashi syndrome