Retinitis pigmentosa

1. By
DRYASIRIQBAL
MBBSFCPS(OPHTH)
PROFOFOPHTHALMOLOGY
CONSULTANT
OPHTHALMOLOGIST

2. Clinical scenario:
A 25-year-old man came to the eye clinic complaining
of vision problems. He said that he started having
trouble seeing in the dark when he was a child, and
now he is also having trouble seeing in the daytime.
He also said that one of his brothers has trouble
seeing in the dark.

3. NYCTALOPIA
DEFINATION ?

4. NYCTALOPIA
WHAT COULD BE THE CAUSES ?

5. CAUSES
 Mostly a retinal problem
 Myopia … one of the common cause of blurring at night
 Angle closure glaucoma… haloes around the light
 Cataractous changes of the lens
 Use of pilocarpine
 Vitamin A def

6. NYCTALOPIA (DETORIATION IN NIGHT VISION)
 RETINAL PROBLEMS :
 Diseases effecting photoreceptors and RPE can lead to Nyctalopia
 It can be retinitis pigmentosa (and associated syndromes)
 Or diseases effecting the choroid, photoreceptors and RPE like
choroidemia and gyrate dystrophy
 It can be drug induced…………
 It can be diseases under no umbrella like Leber’s congenital amaurosis

7. OUR FOCUS
RETINITIS PIGMENTOSA (RP)

8. WHAT IS RETINITIS PIGMENTOSA?
 NOT AN INFLAMMATION OF THE RETINA (MISNOMER)
 BILATERAL DISEASE BUT DISPARITY CAN BE SEEN
 HEREDITARY AND PROGRESSIVE DISEASE
 PREVALENCE 1:5000
 DISEASE OF PHOTORECEPTORS( MAINLY RODS BUT LATER ON
CONES CAN BE INVOLVED TOO)
 HIGH ASSOCIATION WITH SYSTEMIC DISEASES

9. INHERITANCE
 ISOLATED…. SPORADIC CASE
 AD( MOST COMMON; LEAST SEVERE)
 AR
 X-LINKED( LEAST COMMON; MOST SEVERE)
 RHODOPSIN …..THE GENE MUTATED

10. HOW WILL THE PATIENT
PRESENT?

11. PRESENTATION
 PROLONGED ADJUSTMENT TO LIGHT ..........NYCTALOPIA
 LOSS OF PERIPHERAL VISION (FIRST TO OCCUR).....VISUAL
FIELD DEFECTS …….TUNNEL VISION
 DETORIATION OF VISION
 VISION IS EFFECTED ACCORDING TO SEVERITY
 CENTRAL VISION IS PRESERVED TILL LATE 60’S IN SOME
CASES WHERE AS IN SOME IT IS SEVERLY DECREASED IN
EARLY AGE

14. RETINITIS PIGMENTOSA
DEFINATION
 A CLINICAL TRIAD OF
 DECREASE VISION AT NIGHT
 PROGRESSIVE VISUAL FIELD DEFECT FROM
PHOTORECEPTOR AND RPE DYSFUNCTION
 ABNORMAL ERG FINDINGS

15. RETINITIS PIGMENTOSA
Diagnosis of RP (presence of following retinal
finding)
 TRIAD OF
 BONE SPICULE PIGMENTATION
 ARTERIOLAR ATTENUATION
 WAXY PALLOR OF THE OPTIC DISC

16. NORMAL RETINA

17. BONE SPICULES
PIGMENTATION

18. BONE SPICULES
PIGMENTATION

19. BONE SPICULES
PIGMENTATION

21. NORMAL OPTIC DISC

22. WAX LIKE PALLOR OF
THE OPTIC DISC
AND ARTERIOLAR
ATTENUATION

23. DIAGNOSIS BY ERG

24. TREATMENT
 No treatment yet
 We can only rehabilitate the patient with low vision
aids
 But disease can be stopped
 How???

25. PREVENT INVOLVMENT OF FUTURE
GENERATIONS !!!!!!!!! HOW?

26. GENETIC COUNSELLING
 FAMILY PLANNING……….STOP COUSIN
MARRIAGES
 OCULAR EXAMINATION OF ALL FAMILY
MEMBERS HAVING RP

27. ROLE OF VITAMIN A
 THE PROGRESSION OF THE DISEASE CAN BE
REDUCED BY THE DAILY INTAKE OF 15000
IU(EQUIVALENT TO 4.5 MG) OF VITAMIN
PLAMITATE IN SOME PATIENTS.

28. REHABILITATION
 CHANGE WORK PLACE TO AN AREA WELL
ILLUMINATED
 AVOIDANCE OF WALKING ALONE INTO CINEMAS
AND DARK ROOMS
 PROVIDE DRIVER TO AVOID ANY ACCIDENT
 PROVIDE SPECIAL GLASSES
 GIVE SPECTACLE MOUNTED TELESCOPES
 USE MAGNIFIERS WHERE AND WHEN REQUIRED

29. COMMON SYNDROMES ASSOCIATED
WITH RP
 REFSUM
 USHER
 BARDET BEIDL
 LAURANCE MOON
 KEARNS SAYRE
OVERLAPPING SYSTEMIC
FINGINGS ARE
MENTAL RETARDATION
DIGITS ABNORMALITIES
GENITAL DEFECTS
HEARING LOSS

30. CLINICAL SCENARIO
A 25-year-old man came to the eye clinic complaining
of vision problems. He said that he started having
trouble seeing in the dark when he was a child, and
now he is also having trouble seeing in the daytime.
He also said that one of his brothers has trouble
seeing in the dark.
WHAT IS THE DIAGNOSIS?
WHAT WOULD BE THE SIGN SYMPTOMS?
HOW TO DIAGNOSE?
AND HOW TO MANAGE?