2. DEPARTMENT OF OPHTHALMOLOGYDEPARTMENT OF OPHTHALMOLOGY
SINDH GOVT.QATAR HOSPITALSINDH GOVT.QATAR HOSPITAL
DR MARIAM KASHIFDR MARIAM KASHIF
POST GRADUATE STUDENT(MCPS)POST GRADUATE STUDENT(MCPS)
DR JAMEEL AHMED BURNEYDR JAMEEL AHMED BURNEY
SUPERVISOR/HEAD OF DEPARTMENTSUPERVISOR/HEAD OF DEPARTMENT
3. CaseCase
20 year old boy presented with complaint20 year old boy presented with complaint
Gradual decrease in night vision - 6Gradual decrease in night vision - 6
monthsmonths
4. HistoryHistory
Presented with a slow and gradualPresented with a slow and gradual
decrease in vision after darkdecrease in vision after dark
Problem increased for past 1 monthsProblem increased for past 1 months
No associated headache ,ocular pain,No associated headache ,ocular pain,
fever or vomitingfever or vomiting
5. Past HistoryPast History
No history of traumaNo history of trauma
No history of any prolong illnessNo history of any prolong illness
No history of diabetes, hypertension or anyNo history of diabetes, hypertension or any
other systemic disease.other systemic disease.
No drug history or any known drugNo drug history or any known drug
allergiesallergies
6. Family HistoryFamily History
Lives with parents and two youngerLives with parents and two younger
brothers, all healthybrothers, all healthy
Positive family history of night blindness inPositive family history of night blindness in
maternal grandfathermaternal grandfather
12. FundoscopyFundoscopy
Was done after dilating the pupilWas done after dilating the pupil
Revealed:Revealed:
Bone-spicule pigmentary changes in theBone-spicule pigmentary changes in the
peripheryperiphery
Pale optic discPale optic disc
Macula healthyMacula healthy
15. Retinitis pigmentosa (RP) defines a group of
hereditary retinal dystrophies initially and
predominantly affecting the rod photoreceptor cells
with subsequent degeneration of cones
Most common hereditary fundus dystrophy
Retinitis PigmentosaRetinitis Pigmentosa
17. Inheritance patternInheritance pattern
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.
18. Inheritance patternInheritance pattern
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.
19. Diagnostic CriteriaDiagnostic Criteria
SYMPTOMSSYMPTOMS
Bilateral InvolvementBilateral Involvement
Loss of peripheral vision (Tunnel vision)Loss of peripheral vision (Tunnel vision)
Loss of night vision (nyctalopia)Loss of night vision (nyctalopia)
SIGNSSIGNS
Classical TriadClassical Triad
Retinal bone-spicule pigmentRetinal bone-spicule pigment
Arteriolar attenuationArteriolar attenuation
Waxy disc pallorWaxy disc pallor
21. Why Nyctalopia and tunnel vision?Why Nyctalopia and tunnel vision?
Rods detect low light levels.Rods detect low light levels.
Rods, found in greater numbers than cones, areRods, found in greater numbers than cones, are
located across the entire retinal surface. There is alocated across the entire retinal surface. There is a
higher concentration of rods around the peripheryhigher concentration of rods around the periphery
(edges) of the retina, which allows you to see what is(edges) of the retina, which allows you to see what is
above, below and to the sides of the object you areabove, below and to the sides of the object you are
directly viewing.directly viewing.
22. Signs of RP usually appear during childhood or adolescence.
The first sign is often night blindness followed by a gradual loss
of peripheral vision. As the disease develops, people with RP
may often bump into chairs and other objects as peripheral
vision worsens and only central vision persist. They see as if
they are in a tunnel (thus the term tunnel vision).
23. SignsSigns
In chronological order :In chronological order :
Arteriolar narrowingArteriolar narrowing
Peripheral bone-spicule pigmentsPeripheral bone-spicule pigments
24. SignsSigns
Gradual increase in density of theGradual increase in density of the
pigments and anterior and posteriorpigments and anterior and posterior
spreadspread
25. SignsSigns
Severe arteriolar narrowingSevere arteriolar narrowing
Waxy pallor of optic discWaxy pallor of optic disc
29. PrognosisPrognosis
AR has favorable prognosis, retention of centralAR has favorable prognosis, retention of central
vision until 5vision until 5thth
-6-6thth
decade.decade.
AD best prognosis, retention of central visionAD best prognosis, retention of central vision
beyond 6beyond 6thth
decadedecade
XL worst prognosis with severe visual loss byXL worst prognosis with severe visual loss by
the 4the 4thth
decade.decade.
30. Ocular AssociationsOcular Associations
KeratoconnusKeratoconnus
Posterior sub capsular cataractPosterior sub capsular cataract
Open angle glaucomaOpen angle glaucoma
MyopiaMyopia
Vitreous detachmentVitreous detachment
32. 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.
Treatment and ResearchTreatment and Research
33. Treatment and ResearchTreatment and Research
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”
34. Improving Quality of LifeImproving Quality of Life
Find best vision field.Find best vision field.
Use low vision devices if necessary.Use low vision devices if necessary.
Rearrange the furniture to reduce the risk ofRearrange the furniture to reduce the risk of
stumbling or bumping into things.stumbling or bumping into things.
Have a support systemHave a support system
Tell your family about ways in which they can helpTell your family about ways in which they can help
youyou
GENETIC COUNSELINGGENETIC COUNSELING
