Retinitis pigmentosa is a hereditary retinal dystrophy that primarily affects rod photoreceptor cells, causing night blindness and progressive loss of peripheral vision. It has several inheritance patterns including autosomal recessive, autosomal dominant, and X-linked. There is no cure, but treatments can help slow progression and low vision aids can improve function. Gene and cell therapies are areas of ongoing research aimed at developing treatments.

1. Dr. Atul Kumar Anand
Senior Resident
AIIMS Patna

2. Retinitis pigmentosa (RP):- is a progressive,
hereditary retinal dystrophies, initially and
predominantly affecting the rod photoreceptor
cells with subsequent degeneration of cones
Most common hereditary fundus dystrophy
It is one of the common cause of retinal blindness

3.  The condition is genetically determined, but may
be sporodic
 Various inheritance patterns [AD, AR, X linked]
 In majority of families it occur as recessive trait.,
occasionally it shows dominant hereditary and
even sex linked inheritance.

4. Autosomal recessive - most common type of
RP. The chance of having this condition is higher if the
parents are related (for example, cousins).

5.  Autosomal dominant - in this form of RP, only one
parent has the gene, and is usually affected by the
disease as well. Each child has a 50 per cent chance
of inheriting this gene and developing RP.(best
prognosis)

6. X Linked:- If the father is affected, all sons will
be unaffected and all daughters will be carriers.
If the mother is the carrier, 1 in 2 sons will be
affected and 1 in 2 daughters will be carriers.
(least common, worst prognosis)

7.  Symptoms usually appear during childhood or
adolescence. The first symptom is often night
blindness followed by a gradual loss of peripheral
vision Patient presents with symptoms which
become apparent between ages of 10 and 30 yrs.
 Night vision problems / prolonged dark
adaptation
 Slow progressive loss of peripheral vision
[tubular vision]
 Sparing of central vision
 Ring Scotoma

9.  Rods detect low light levels.
 Rods, found in greater numbers than cones, are
located across the entire retinal surface. There is a
higher concentration of rods around the periphery
(edges) of the retina, which allows you to see what is
above, below and to the sides of the object you are
directly viewing.

10. Classical Triad:-
 Retinal bone-spicule pigment
 Arteriolar attenuation
 Waxy pallor disc

12. NORMAL FUNDUS RETINITIS
PIGMENTOSA

13. In chronological order :
 Arteriolar narrowing
 Peripheral bone-spicule pigments

14. Gradual increase in density of the
pigments and anterior and posterior spread

15. Severe arteriolar narrowing
Waxy pallor of optic disc

16. RETINITIS PIGMENTOSA

17. Direct & indirect ophthalmoscopy
 Indirect slit lamp biomicroscopy
Visual field evaluation(Perimetry)
 Dark adaptametry
 ERG (Electroretinogram):- subnormal amplitude
EOG (Electro-oculogram):- absence of light peak

18.  AR has favorable prognosis, retention of central
vision until 5th-6th decade.
 AD best prognosis, retention of central vision
beyond 6th decade
 XL worst prognosis with severe visual loss by the
4th decade.

19. Associated ocular problems
 Myopia
 Subcapsular cataract
 Open angle glaucoma
 Keratoconus
 Posterior vitreous detachment

20. Retinitis punctata albescens
Sectorial RP
Cone-rod dystrophy
Pericentric RP
 Retinitis pigmentosa sine pigmento

21.  Retinitis pigmentosa sine pigmento:- with
same symptoms but without visible retinal
pigmentation, ERG confirm diagnosis
Retinitis punctata albescens:- is an
allied condition with same history and
symptoms but here the retina shows
hundreds of small white dots distributed
uniformly over the whole fundus

23. Sectorial RP:- involvement of only one
sector of retina
Pericentric RP:- similar to typical RP but
pigmentary changes are confined to
pericentral area, sparing periphery

24. Bassen Kornzweig syndrome
Refsum’s syndrome
Kearns Sayre syndrome
Bardet – Biedl syndrome
Usher’s syndrome
Cockayne’s syndrome

25. Bassen Kornzweig syndrome:- AR, RP,
ataxia, acanthocytosis, fat malabsorption
(abetalipoproteinaemia)
Refsum’s syndrome:- AR, RP, icthyosis,
peripheral neuropathy, cerebellar ataxia, due
to defective phytanic acid metabolism.
 Kearns Sayre syndrome:- triad of RP,
CPEO & heart block

26. Laurence-Moon-Bardet – Biedl syndrome:-
AR, RP, mental retardation, polyductyly,
obesity & hypogonadism.
Usher’s syndrome:- AR, RP & sensory-neural
deafness.
Cockayne’s syndrome:-AR, RP, dwarfism,
ataxia, mental retardation, nystagmus, bird
like facies,

27. There is no cure for RP.
Low vision aids, including telescopic and magnifying lenses, night
vision scopes as well as other adaptive devices.
Vitamin A and lutein may slow the rate at which the disease
progresses.
Antioxidants , omega-3 fatty acid low phytanic acid diet,

28.  Gene therapy research introducing a healthy gene
into retina.
 Transplant Research transplanting healthy retinal
cells
 Retinal Prosthesis:- implantable light-sensitive
electrode (retinal prosthesis). This prosthesis would be
introduced into the eye and function as a “bionic retina”
 GENETIC COUNSELING

29. Condition in which inability to see in relative dim
light.
Causes :
1. Vitamin A deficiency
2. Retinitis pigmentosa
3. High Myopia
4. Media opacification - cataract
5. Following pan retinal photocoagulation
6. Congenital stationary night blindness
7. Advanced glaucoma