Albinism is a congenital disorder characterized by partial or complete lack of melanin pigment in the skin, hair and eyes. This results from a genetic mutation that prevents the body from producing sufficient melanin. There are three main types of albinism which vary based on the amount of melanin produced. Symptoms include very pale or white hair and skin that burns easily in the sun, visual impairments like nystagmus, strabismus and low vision. While there is no cure, treatments focus on protecting the skin from UV rays and improving vision through glasses, surgery and low vision devices.

1. Albinism
Archana waghmode
3rd year student of B.optometry
H.V.Desai college of optometry, pune

2. What is Albinism?
- Also called hypo- pigmentation,achromia,achromasia .
- Albino : white negro
- Is a congenital disorder characterised by complete or
partial absence of melanin pigment in skin ,hair and eyes
- Due to absence of tyrosinase enzyme involved in production
of melanin.

3. Melanin:-
- Is a substance that gives skin & hairs its
natural color.
- It also gives color to iris of eye.
- It synthesized from amino acid tyrosine.
- In the skin it formed by cells called
melanocytes

4. Three basic
types of
melanin:-
1.Eumelanin- black & brown
color
2.Phenomelanin- red or
yellow color ,responsible for
red hairs & freckles
3.Neuromelanin- found in
brain ,though it's function
remains obscure

5. ✫ Melanin have some benefits ~
•Produce natural protection against harmful effect
of UV rays of sun .
•mechanism for absorbing heat from sun .
• Also important for sharpness of vision .

6. ✫Characteristics of Albinism ~
● Eyes are usually blue or light brown ,but can sometime
appear red
● Skin & hair is very pale in color .
● More likely to sunburn
● Sensitivity to bright light

7. The blood in retina & iris reflects red
light, resulting in pink eyes .

8. ✫Symptoms of Albinismic eye
Individual with albinism often have
pale blue eyes&
White eyelashes
Albinism eyes will appear very red
When light is shown into them

9. - Absence of pigment from hair,skin ,eye
- Most forms of complete albinism symptoms:
•Nystgmus
• strabismus
• Photophobia
• Decreased VA
• Functional blindness
- Abnormal development of retina ,resulting in reduced
vision.
- Poor depth perception
- Legal blindness or complete blindness.

10. ᯽ Physical symptoms:-
- White or very light skin
- Very light hair
- Red eyes (some cases)
- Visio problems
- Less melanin makes them easier to burn

11. Causes of Albinism :-
- Caused by mutation or an alteration of gene that
makes melanin pigment
- Autosomal recessive and some types x-linked recessive
inheritance.

13. 1.Ocular Albinism-
- Eyes lack melanin pigment
- Skin & hair appear normal or only slightly normal
- Accounts for 10-15% cases of Albinism

14. - Most common form of Albinism.
- Dilution of color of hair,skin & eyes.
- 4 main subtypes:
• OCA 1
• OCA 2
• OCA 3
• OCA 4
2. Oculocutaneous Albinism :-( OCA)

15. (a) OCA 1:-
- White hair
- Very pale skin
- Light colored iris

16. (b) OCA 2 :-
- Minimum amount of melanin pigment .
- Less severe
- Skin : creamy white color
- Hair may be light yellow ,blond or light brown

17. ( C) OCA 3:-
- Usually affects dark
skinned people
- reddish brown skin
- Ginger or red hairs
- Hazel or brown iris

18. (d) OCA 4 :-
- Similar symptoms to OCA 2
- Light skin
- Yellow blond or light brown hair
- Occurs frequently in Japanese & Korean
population

19. Normal retina

21. ● Management &Treatment:-
- There is no cure for albinism ,because albinism
is genetic disorder .
- Treatment only reduce symptoms
- The skin & eye must be protected by sun
▪SKIN
- Skin can protected by sunscreen
- Always wear special UV protective clothes to
reduce sunburn risk

22. ▪ Eyeglasses : individuals with albinism almost
always have high degree of astigmatism.
They also may be farsighted or nearsighted
▪Dark sunglasses: relieve photophobia

23. ▪ EOM Surgery : Decrease strabismus
▪ Nystagmus damping - to reduce eye shaking
▪ use strong reading glasses, hand held devices such as
magnifiers
▪Bioptic telescope- Albino respond very well to
telescopic magnification.