Albinism MCQs With Answer

Albinism MCQs With Answer provides B. Pharm students a focused, exam-oriented review of albinism, covering genetics, biochemistry, clinical features and pharmacological implications. This concise guide emphasizes key keywords like tyrosinase, melanin synthesis, oculocutaneous albinism, syndromic albinism (Hermansky-Pudlak, Chediak-Higashi), gene mutations (TYR, OCA2, TYRP1, SLC45A2), ocular manifestations and sun protection. Designed to strengthen understanding of molecular defects, diagnostic approaches, counseling and potential therapeutic strategies, these questions help pharmacy students integrate pathophysiology with clinical and drug-related considerations. Now let’s test your knowledge with 50 MCQs on this topic.

Q1. What is the primary biochemical defect in most cases of oculocutaneous albinism (OCA)?

• Excess melanin production
• Deficiency of tyrosinase activity
• Overexpression of MC1R receptor
• Defective keratinocyte proliferation

Correct Answer: Deficiency of tyrosinase activity

Q2. Which gene is most commonly mutated in classical OCA type 1?

• OCA2
• TYR
• TYRP1
• SLC45A2

Correct Answer: TYR

Q3. Albinism is most commonly inherited as which pattern?

• Autosomal dominant
• X-linked recessive
• Autosomal recessive
• Mitochondrial

Correct Answer: Autosomal recessive

Q4. Which pigment types are produced by the melanogenesis pathway?

• Carotene and xanthophyll
• Eumelanin and pheomelanin
• Biliverdin and bilirubin
• Hemoglobin and myoglobin

Correct Answer: Eumelanin and pheomelanin

Q5. Which clinical feature is characteristic of ocular albinism but may spare skin pigmentation?

• Severe photophobia and nystagmus
• Excessive freckling
• Hirsutism
• Hyperkeratosis

Correct Answer: Severe photophobia and nystagmus

Q6. Which diagnostic test can confirm reduced melanin synthesis in skin or hair samples?

• Serum melanin concentration test
• Tyrosinase enzyme activity assay
• Complete blood count
• Urine dipstick

Correct Answer: Tyrosinase enzyme activity assay

Q7. Hermansky-Pudlak syndrome (HPS) is associated with albinism plus which systemic feature?

• Renal failure
• Bleeding diathesis due to platelet storage pool deficiency
• Hyperthyroidism
• Sensorineural hearing loss

Correct Answer: Bleeding diathesis due to platelet storage pool deficiency

Q8. Which ocular structural abnormality is commonly seen in albinism causing reduced visual acuity?

• Retinal detachment
• Foveal hypoplasia
• Cataract formation
• Optic disc cupping

Correct Answer: Foveal hypoplasia

Q9. Chediak-Higashi syndrome includes hypopigmentation and which additional major problem?

• Progressive renal cysts
• Immunodeficiency with recurrent infections
• Sensorineural deafness
• Endocrine tumors

Correct Answer: Immunodeficiency with recurrent infections

Q10. Which melanosome-related protein mutation leads to OCA type 2?

• TYR
• OCA2 (P protein)
• TYRP1
• SLC24A5

Correct Answer: OCA2 (P protein)

Q11. For B. Pharm students, why is understanding albinism relevant to pharmacology?

• Albinism determines drug metabolism in the liver
• Photosensitivity influences topical and systemic drug choices and sun avoidance counseling
• Albinism increases susceptibility to all infections
• Albinism requires routine antibiotic prophylaxis

Correct Answer: Photosensitivity influences topical and systemic drug choices and sun avoidance counseling

Q12. Which ocular management is commonly recommended for visual improvement in albinism?

• Topical antibiotics
• Low vision aids and corrective lenses
• Intravitreal steroids
• Corneal transplantation

Correct Answer: Low vision aids and corrective lenses

Q13. Which protein defect is implicated in OCA type 3 (also called rufous OCA)?

• SLC45A2
• TYRP1
• OCA2
• TYR

Correct Answer: TYRP1

Q14. What is the main preventive advice pharmacists should give to patients with albinism?

• Limit water intake
• Strict sun protection including sunscreen and protective clothing
• Avoid dairy products
• High-dose vitamin C supplementation

Correct Answer: Strict sun protection including sunscreen and protective clothing

Q15. Which ocular finding results from misrouting of optic nerve fibers in albinism?

• Exotropia only
• Abnormal decussation at the optic chiasm leading to impaired binocular vision
• Lens dislocation
• Macular degeneration

Correct Answer: Abnormal decussation at the optic chiasm leading to impaired binocular vision

Q16. Which laboratory technique is most useful for identifying specific gene mutations in albinism?

• Complete blood count
• Sanger sequencing or next-generation sequencing of OCA genes
• Urine culture
• Serum protein electrophoresis

Correct Answer: Sanger sequencing or next-generation sequencing of OCA genes

Q17. Which is NOT a typical clinical consequence of reduced melanin in albinism?

• Increased risk of skin cancers
• Photophobia
• Improved night vision
• Nystagmus

Correct Answer: Improved night vision

Q18. Melanin synthesis begins with which amino acid as the primary substrate?

• Tyrosine
• Tryptophan
• Phenylalanine
• Histidine

Correct Answer: Tyrosine

Q19. Which enzyme converts tyrosine to DOPA in melanogenesis?

• DOPA decarboxylase
• Tyrosinase
• Monoamine oxidase
• Phenylalanine hydroxylase

Correct Answer: Tyrosinase

Q20. Which pharmacologic agent class should be used cautiously in albinism patients due to photosensitivity risk?

• Beta blockers
• Photosensitizing drugs such as tetracyclines and sulfonamides
• ACE inhibitors
• Proton pump inhibitors

Correct Answer: Photosensitizing drugs such as tetracyclines and sulfonamides

Q21. Which syndrome features albinism and progressive pulmonary fibrosis in addition to bleeding tendency?

• Griscelli syndrome
• Hermansky-Pudlak syndrome
• Marfan syndrome
• Down syndrome

Correct Answer: Hermansky-Pudlak syndrome

Q22. Which cellular organelle is primarily responsible for melanin synthesis and storage?

• Lysosome
• Melanosome
• Mitochondrion
• Endoplasmic reticulum

Correct Answer: Melanosome

Q23. In albinism, altered melanosome number or distribution affects which skin cell interaction?

• Melanosome transfer from melanocytes to keratinocytes
• Collagen crosslinking in fibroblasts
• Sweat gland secretion
• Sebaceous gland activity

Correct Answer: Melanosome transfer from melanocytes to keratinocytes

Q24. Which gene mutation is associated with OCA type 4?

• TYRP1
• SLC45A2 (also called MATP)
• TYR
• OCA2

Correct Answer: SLC45A2 (also called MATP)

Q25. Which of the following is a common ophthalmic symptom reported by patients with albinism?

• Proptosis
• Photophobia
• Glaucoma as a primary feature
• Painless loss of peripheral vision

Correct Answer: Photophobia

Q26. Which strategy is recommended for skin cancer prevention in albinism?

• Intermittent sun exposure to increase vitamin D
• Regular use of broad-spectrum sunscreen, protective clothing, and avoiding midday sun
• Topical steroid application daily
• Oral retinoids prophylactically for all patients

Correct Answer: Regular use of broad-spectrum sunscreen, protective clothing, and avoiding midday sun

Q27. Which laboratory finding may be seen in Hermansky-Pudlak syndrome besides albinism?

• Prolonged bleeding time due to platelet dense granule deficiency
• Elevated liver enzymes in early childhood
• Hypercalcemia
• Polycythemia

Correct Answer: Prolonged bleeding time due to platelet dense granule deficiency

Q28. Which animal model is commonly used to study tyrosinase-deficient albinism?

• Drosophila white mutant only
• Albino mouse strains (e.g., Tyr mutants)
• Zebrafish with no relevance
• Guinea pig

Correct Answer: Albino mouse strains (e.g., Tyr mutants)

Q29. Gene counseling for families with albinism should include which point?

• Albinism is always de novo and not inherited
• Carrier parents have a 25% chance of an affected child with each pregnancy if both are carriers
• There is no genetic testing available
• Only males are affected

Correct Answer: Carrier parents have a 25% chance of an affected child with each pregnancy if both are carriers

Q30. Which of the following is an ocular complication that may develop secondary to albinism-related photophobia and exposure?

• Actinic keratopathy and photokeratitis
• Retinitis pigmentosa
• Uveitis
• Optic neuritis

Correct Answer: Actinic keratopathy and photokeratitis

Q31. Which pharmacological approach is currently under investigation to increase pigmentation in some OCA forms?

• Topical corticosteroids
• Pharmacologic chaperones to rescue defective tyrosinase folding or gene therapy
• Long-term antibiotics
• High-dose vitamin D supplementation

Correct Answer: Pharmacologic chaperones to rescue defective tyrosinase folding or gene therapy

Q32. Which clinical test assesses visual pathway misrouting typical of albinism?

• Electroencephalogram
• Visual evoked potentials (VEP) showing abnormal lateralization
• Serum tyrosinase level
• Electrocardiogram

Correct Answer: Visual evoked potentials (VEP) showing abnormal lateralization

Q33. Griscelli syndrome has overlapping hypopigmentation but is caused by defects in which cellular process?

• Melanosome transport due to mutations in myosin Va or Rab27a
• Keratinocyte apoptosis
• Mitochondrial DNA depletion
• Excess melanin secretion

Correct Answer: Melanosome transport due to mutations in myosin Va or Rab27a

Q34. Which pigment cell type produces melanin?

• Keratocyte
• Melanocyte
• Fibroblast
• Dermal macrophage

Correct Answer: Melanocyte

Q35. Which ocular surgery may be considered to reduce nystagmus or improve head posture in selected albinism patients?

• Trabeculectomy
• Extraocular muscle surgery (e.g., Kestenbaum procedure)
• Cataract extraction in all cases
• Retinal photocoagulation

Correct Answer: Extraocular muscle surgery (e.g., Kestenbaum procedure)

Q36. Pheomelanin synthesis requires which additional substrate or cofactor compared to eumelanin?

• Glutathione
• Cysteine
• Calcium
• Vitamin D

Correct Answer: Cysteine

Q37. Which of the following genes is associated with pigmentation variation and sometimes studied in relation to albinism phenotypes?

• BRCA1
• MC1R
• CFTR
• APP

Correct Answer: MC1R

Q38. Prenatal diagnosis for known familial albinism-causing mutations is performed using which technique?

• Amniocentesis or chorionic villus sampling with molecular genetic testing
• Maternal urine dipstick
• Ultrasound alone
• Fetal X-ray

Correct Answer: Amniocentesis or chorionic villus sampling with molecular genetic testing

Q39. Which systemic complication is characteristic of some Hermansky-Pudlak subtypes in adulthood?

• Pulmonary fibrosis
• Type 1 diabetes
• Early-onset Alzheimer’s
• Hemolytic anemia

Correct Answer: Pulmonary fibrosis

Q40. Which imaging modality helps evaluate foveal hypoplasia in albinism?

• Chest X-ray
• Optical coherence tomography (OCT)
• Abdominal ultrasound
• EEG

Correct Answer: Optical coherence tomography (OCT)

Q41. Which counseling point about vaccination is relevant for patients with syndromic albinism and immunodeficiency (e.g., Chediak-Higashi)?

• Avoid all vaccines
• Live vaccines may require specialist immunology review before administration
• Only oral vaccines are safe
• Vaccination is unnecessary

Correct Answer: Live vaccines may require specialist immunology review before administration

Q42. Which biochemical intermediate accumulates when tyrosinase is inactive?

• DOPA and upstream substrates such as tyrosine may be reduced in conversion; DOPA production is impaired
• Excess dopamine in bloodstream
• Excess melanin in tissues
• Uric acid crystals

Correct Answer: DOPA and upstream substrates such as tyrosine may be reduced in conversion; DOPA production is impaired

Q43. Which therapeutic advice about topical agents should pharmacists give for skin lesions in albinism?

• Use topical retinoids and sunscreens with caution and monitor for photosensitivity
• Topical antibiotics as preventive therapy indefinitely
• Frequent use of hydroquinone is recommended to darken skin
• All topical medications are contraindicated

Correct Answer: Use topical retinoids and sunscreens with caution and monitor for photosensitivity

Q44. Which metabolic disorder can cause secondary hypopigmentation but is distinct from inherited albinism?

• Vitiligo due to autoimmune melanocyte loss
• Type 2 diabetes
• Hypertension
• Osteoporosis

Correct Answer: Vitiligo due to autoimmune melanocyte loss

Q45. Which diagnostic sign in newborns may prompt early evaluation for albinism?

• High birth weight exclusively
• Marked hypopigmentation of hair, skin, and iris with nystagmus
• Excessive crying only at night
• Blue sclera without other signs

Correct Answer: Marked hypopigmentation of hair, skin, and iris with nystagmus

Q46. Which component of patient care is essential in multidisciplinary management of albinism?

• Sole care by dermatology only
• Coordination among dermatology, ophthalmology, genetics, and primary care for integrated management
• Only surgical intervention is required
• No follow-up is needed after diagnosis

Correct Answer: Coordination among dermatology, ophthalmology, genetics, and primary care for integrated management

Q47. Which ocular medication may be prescribed to manage photophobia and light sensitivity in albinism?

• Topical mydriatics during daytime without caution
• Tinted glasses or photochromic lenses and sometimes topical tinted contact lenses
• Topical antiviral drops
• Oral steroids long-term

Correct Answer: Tinted glasses or photochromic lenses and sometimes topical tinted contact lenses

Q48. Which cellular trafficking defect is implicated in Hermansky-Pudlak and leads to broader systemic issues?

• Defective mitochondrial electron transport
• Defects in lysosome-related organelle biogenesis affecting melanosomes and platelet dense granules
• Defective cytosolic glycolysis
• Excessive protein secretion by Golgi

Correct Answer: Defects in lysosome-related organelle biogenesis affecting melanosomes and platelet dense granules

Q49. Which public health measure is important for communities with high albinism prevalence?

• Ignoring sun protection due to cultural reasons
• Awareness programs about sun safety, early vision screening and genetic counseling services
• Mandatory genetic testing for all citizens regardless of consent
• Prohibiting outdoor activities for all children

Correct Answer: Awareness programs about sun safety, early vision screening and genetic counseling services

Q50. In research contexts, which cutting-edge approach holds promise for addressing gene defects in albinism?

• Antibiotic monotherapy
• Gene therapy and targeted molecular treatments to restore or replace defective pigment genes
• High-dose aspirin therapy
• Homeopathic remedies

Correct Answer: Gene therapy and targeted molecular treatments to restore or replace defective pigment genes

G S Sachin

I am a Registered Pharmacist under the Pharmacy Act, 1948, and the founder of PharmacyFreak.com. I hold a Bachelor of Pharmacy degree from Rungta College of Pharmaceutical Science and Research. With a strong academic foundation and practical knowledge, I am committed to providing accurate, easy-to-understand content to support pharmacy students and professionals. My aim is to make complex pharmaceutical concepts accessible and useful for real-world application.

Mail- Sachin@pharmacyfreak.com