oculocutaneous albinism, Low vision management

1. ALBINISM
Mahendra Singh
PhD (Scholar) M.Optom, FLVPEI (Hyd)
Assistant Professor and consultant Optometrist.
CL Gupta Eye Institute. UP India

2. ALBINISM
 Latin word ALBUS
 HYPOMELANOSIS or
HYPOMELANISM
 Congenital genetic disorder
 Effecting eye, skin and hair.
 Changes in melanin production

3. CAUSES
 Genetically inherited
 Mutation
 No transmission through contacts or blood
transfusion

4. CLASSIFICATION
I. OCULOCUTANEOUS ALBINISM
II. CUTANEOUS ALBINISM
III. OCULAR ALBINISM

5. OCULOCUTANEOUS
ALBINISM
 Parents are normal, but carries effected
gene each, 25% chances of albinic child.
 Complete lack of pigment
 White hair, brows, lashes and skin pale to
silky white
 Iris pale blue and complete trans-
illumination

6.  Pale fundus
 Mild to moderate nistagmus,
hypermetropia, photophobia, strabismus
 Hair is taken from scalp and is dipped in
thyrosinase,if hair bulb is turned dark
indicate pigment is present (ty+)

7. THYROSINASE POSITIVE
OCULOCUTANEOUS
 Slight pigmentation,less severe vision
complication.
 Thyrosinase activity is normal but inability
of cell to sequester the synthesized
 Hemorrhagic dysthesis
 Susceptible to infection.

8. THYROSINASE NEGATIVE
OCULOCUTANANEOUS
 Inability of thyrosinase to make use of
thyrosine to produce melanin
 Complete absence of pigment
 V/A is 6/120

9. CUTANEOUS
 Autosomal recessive
 Signs present at birth but pigmentation
increases by 6yrs of age
 Normal fundus pigmentation
 Less evident nistagmus,comparatively less
intolerance to light,less trans-illumination.
 Even skin tan with sun rays.

10. OCULAR ALBINISM
 Abnormality in melanosomes synthesis
 Autosomal recessive disease
 Hair and skin exhibit pigmentation in
comparison to other types
 Hypo plastic macula

11. CLASS 1
 X-Linked Albinism.
 Only males are effected
 50% chances of transmission from mother
 Father to son transmission is impossible
 Hair colour is same or almost same
 V/A ranges 6/15 to 6/120
 Carrier female has mosaic retinal pigments

12. CLASS 2
 High frequency of hearing loss between
puberty and 40 yrs of age
 Same features as class1

13. CLASS 3
 Autosomal recessive
 Both parent carry 1 albinism gene
 Equal prevalence in males and females
 Hairs being normal or slight discolored
 V/A ranges 6/18 to 6/120
 25% chances of disease occurrence
 Child can also be carrier like parent

14. CLASS 4
 Autosomal dominant
 Excessive skin freckles
 Sensory neural deafness
 V/A is 6/60
 Hairs normal in colour

15. SYMPTOMS
EYE
 Poor vision
 Photophobia
SKIN
 Little or no pigments
 Small patches of less pigments

16.  Extremely sensitive to skin burn
 Very highly susceptible to skin cancer
HAIRS
 Portion or complete white hair

17. SIGNS
 Nystagmus
 Strabismus
 Refractive error especially hypermetropia
 Photophobia
 Foveal hypoplasia
 Absence or no binocular functioning

18.  Amblyopia
 Posterior embryotoxon
 Optic nerve head is small with blurred
margin and dysplasia
 Irregular entrance of retinal vessels
 Sometimes irregular pigmented spots are
present on arms and leg

19. CONGENITAL NYSTAGMUS
 Involuntary jerky or pendular oscillatory
eye movement
 Appears during 3 months,precede by poor
fixation and poor visual contacts causing
delayed visual mutation
 If null point eccentric,compensatory head
posture is present

20. PHOTOPHOBIA
 Melanin pigment absorb stray light and
protect from UV rays
 Melanin is present in many layer of eyes,so
provides entry of light only through pupil
 Retinal pigments absorb stray light
 Thus albinism patient has too much of light
entering into eyes

21. SUNBURN
 Melanin pigments which are responsible
for blocking light entry are absent
 Due to which sunburns occur
 Easy penetration of sun rays through
clothes

22. HYPOPIGMENTATION OF
IRIS
 Iris translucency caused by hypopigmenta-
tion of iris pigmented epithelium
 A light source placed directly on bulbar
conj through an undilated light source
 Normally light exits only through pupil but
in albinism,reflected light penetrate iris-
TRANS-ILLUMINATION

24. HYPOPIGMENTATION OF
FUNDUS
 Due to decrease pigmentation in RPE in
periphery,choroidal vessel are visible
 Some cases less demarcation between
more and less pigmented areas within
visual arcades

25. FOVEAL HYPOPLASIA
 Absence of foveal pit and annular reflex
 Sometimes vessels extend through
avascular area
 Causes reduction in central V/A

27. VISUAL ACUITY
 Reduction in V/A is primarily due to
undevelopment of central retina
 Best corrected V/A ranges between 6/12 to
6/60
 Non-progressing so V/A remains same
through out life

28. STRABISMUS
 Due to reduced vision tendency of eye to
either turn out or in.
 Leading to tropia or phoria
 Loss of binocular vision
 Reduced depth perception

29. TREATMENT
Albinism cant be ‘cured’ or ‘treated’
 Sun protection
 Glare control
 Refractive error correction
 Low vision aids
 Contact lenses
 Surgical treatment
 Genetic concealing

30. SUN PROTECTION
 Sunglasses and filters
 Tints can be- dark plum gray, green amber
 Avoid sudden change in lighting situation
 Sunscreen,sun protective clothing,special
swim suits
 Sunglasses and caps with wide hoods to
avoid glare

31.  Window blinders, add tint film on car
windows
 Beta-carotene may provide some skin
colour

32. GLARE CONTROL
 Short wavelength, high energy part of
visible spectrum dominates day light and
contributes to glare
 Hazy vision and intense light sensitivity
 Decrease contrast sensitivity
 Sun tints

33.  Frame with side shield, hats and visors
 Polaroid, Corning glare control lenses
 If light sensitive, decrease amount of light
is required to perform task with LVA
 Goose-neck lamps in place of side lamps
 Indirect light for all the work

34. REFRECTIVE CORRECTON
 Refractive error correction earliest helps
in development of eyes
 Need prescription made glasses
 Bifocal with higher addition
 Aid in reducing stress and decrease
nystagmus

35. LOW VISION AIDS
 Optical aids
 Non-optical aids

36. OPTICAL AIDS
 Telescopes and Monocular
 BIOPTIC TELESCOPIC SPECTACLE
 Closed Circuit Television(CCTV)

38. For reading
 Prefers work at closer distance
 Bifocals with strong addition
 Magnifiers- increase letter size and
working distance
 Microscope

39. NON-OPTICALAIDS
 Software
 CCTV provide magnification more than
other
 It can also be adjusted for size,brightness
and contrast
 It provide black screen to reduce glare
 MAGNICAM CCTV

40. Contrast enhancement aid
 Increasing contrast is more effective than
size
 Black felt tipped pen and dark lined paper
 Writing guide
 Filters
 Too much and too little lightening
condition both can cause problem

41. CONTACT LENS
 Prosthetic Contact lens
 In nystagmus
 High refractive error
 Patient very sensitive success rate is less

42. SURGRICAL TREATMENT
 NYSTAGMUS-damping surgery to reduce
shaking movement of eye
 STRABISMUS-improve appearance and
inc. visual field
 Improving appearance of eye
 Surgery will not provide fine binocular
vision

43. GENETIC CONCELLING
 Determine risk of prevalence of genetic
disorder in family
 Provide information about offspring
 Help in advising
 To detect potential genetic handicap in
parents or progeny

44. THANK YOU