Retinitis pigmentosa is a rare inherited degenerative eye disease leading to severe vision impairment due to the loss of photoreceptors in the retina, initially affecting rods and subsequently cones. Symptoms include night blindness, poor visual acuity, and gradual loss of peripheral vision, ultimately resulting in blindness in adulthood. While there is currently no cure, management options include low vision aids, high-dose vitamin A, and potential advanced treatments like gene therapy.

1. RETINITIS PIGMENTOSA
PRESENTED BY: DR. MLALUKO, MD

2. Retinitis pigmentosa
• Is rare inherited degenerative eye disease that
cause severe vision impairment. In this disease,
the retina is damaged and lead to loss of
photoreceptors (cones and rods) and progressive
vision loss.
• Primary it start to rods as primary degeneration
then follows cones as secondary degeneration.
• Later it affect the central vision , which is needed
for reading, driving, recognizing faces then in
adulthood the patient become blind.

3. Cont…
• 1:3,000-5,000
• a.k.a Rod-cone dystrophy, Pigmentary
retinopathy/Tapetoretinal generation

4. Pathophysiology
• Photoreceptors apoptosis
• Retinal degeneration due to failure RPE to
phagocytose the shed rod outer segment discs results
in accumulation of rod outer segment debris
• Defect in the accumulation of cGMP-
phosphosiesterase which leads to accumulation of
toxic level of cGMP

5. Mode of inheritance
• Sporadic: It is called simplex/isolated RP; most
common (50%); only one person in the family
presents with features
• Inherited:
i. AD (25%); best prognosis
ii. AR (25%)
iii. XLR (10%); worst prognosis

6. Clinical symptoms and signs
• Poor vision in dim light (Nyctalopia)
• Progress loss of vision at night (night
blindness)
• Delayed adaptation to bright light
• Flashes of light
• Mild to severe loss of peripheral visual field
• Poor visual acuity (reduced central vision)
• Glares

7. Cont…

8. Diagnosis
• History taking; night blindness, familial
history
• Fundal findings; bone spicules, arterioriolar
attenuation and pallor disc+/- macula edema
• Ocular association of RP; OCHTN/POAG,
posterior subcapsular/cortical cataract, myopia,
microphthalmia, keratoconus, PVD, optic disc
atrophy, epiretinal membrane

9. Cont…
• Systemic (syndromic) association
i. Lawrence-Moon-Bandet-Biedl syndrome;
Obesity, MR, polydactyl, polyuria, polydypsia,
hirschsprung disease, renal anomalies
ii. Cockayne syndrome; Cataract, optic atrophy,
dry eyes, squint, nystagmus, corneal opacity
iii. Refsum’s syndrome; hearing loss, loss of smell
and ataxia
iv. Usher’s syndrome; hearing loss

10. Cont…
• Atypical RP
I. Retinitis sine pigmentosa; no bony spicules
II. Cones-rods dystrophy; central/colour vision then
peripheral
III. Retinitis punctata Albesiens; white dots on the
fundus

11. Cont..RP

12. Cont..

13. Cont..

14. RSP

15. Investigations
• Ophthalmoscope; retinal examination
• Perimetry
• Electroretinogram (ERG); reduced a wave
• OCT; DME and thinning of RPE
• Genetic test; RPGR, RPE65, USH2A
• Dark adaptometry: Minimum light intensity that is
capable to stimulate rods and cones

16. Treatment
• This disease has no cure

17. Cont…
 Conservatives: Low vision aids, Avoid
retinotoxic drugs, sunglasses
 Medical: High dose Vitamin A (Lung ca &
hepatoxicity), Lutein +/-, CAIs (oral and
topical); Magic drug
 Surgical: Cataract surgery
 Advanced tx: Gene therapy, tissue retinal
transplant and bionic eye (epi/subretinal or
suprachoroidal)

18. Cont..BE

19. Cont..

20. Cont…

21. Differential diagnoses
• Hypovitaminosis A

22. AKSANTEEEEEENI