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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
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
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
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
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
Provisional DiagnosisProvisional Diagnosis
Night BlindnessNight Blindness
(Nyctalopia)(Nyctalopia)
Differential DiagnosisDifferential Diagnosis
 CataractCataract
 Night Blindness (Vitamin A deficiency)Night Blindness (Vitamin A deficiency)
 Chronic simple GlaucomaChronic simple Glaucoma
 High myopiaHigh myopia
 Stationary night blindnessStationary night blindness
 Retinitis PigmentosaRetinitis Pigmentosa
ExaminationExamination
 Well oriented young manWell oriented young man
Vitals:Vitals:
 Blood pressure 110/80 mmhgBlood pressure 110/80 mmhg
 Pulse 80/min,Pulse 80/min,
 Temp 98 degree.Temp 98 degree.
 Systemic examination was normalSystemic examination was normal
ExaminationExamination
RIGHT EYERIGHT EYE LEFT EYELEFT EYE
VISIONVISION 6/66/6 6/66/6
OCULAROCULAR
MOTILITYMOTILITY
NORMALNORMAL NORMALNORMAL
PUPILLLARYPUPILLLARY
REACTIONREACTION
NORMALNORMAL NORMALNORMAL
ExaminationExamination
RIGHT EYERIGHT EYE LEFT EYELEFT EYE
IOPIOP 1212 1010
CONJUNCTIVACONJUNCTIVA NORMALNORMAL NORMALNORMAL
CORNEACORNEA CLEARCLEAR CLEARCLEAR
ANTERIORANTERIOR
CHAMBERCHAMBER
NORMALNORMAL NORMALNORMAL
LENSLENS NORMALNORMAL NORMALNORMAL
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
DiagnosisDiagnosis
RETINITIS PIGMENTOSA (RP)RETINITIS PIGMENTOSA (RP)
• HistoryHistory
• Bone-spicule pigmentBone-spicule pigment
• Waxy pale optic discWaxy pale optic disc
FundusFundus
NORMAL FUNDUSNORMAL FUNDUS RETINITISRETINITIS
PIGMENTOSAPIGMENTOSA
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
Inheritance patternInheritance pattern
Autosomal recessive - most common type of
RP. The chance of having this condition is higher if
the parents are related (for example, cousins).
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.
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.
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
TriadTriad
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.
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).
SignsSigns
In chronological order :In chronological order :
 Arteriolar narrowingArteriolar narrowing
 Peripheral bone-spicule pigmentsPeripheral bone-spicule pigments
SignsSigns
 Gradual increase in density of theGradual increase in density of the
pigments and anterior and posteriorpigments and anterior and posterior
spreadspread
SignsSigns
 Severe arteriolar narrowingSevere arteriolar narrowing
 Waxy pallor of optic discWaxy pallor of optic disc
 RETINITIS PIGMENTOSARETINITIS PIGMENTOSA
SignsSigns
 Pigment clumpsPigment clumps
 Optic atrophyOptic atrophy
 Macular atrophyMacular atrophy
Diagnostic ToolsDiagnostic Tools
 ERG (Electroretinogram)ERG (Electroretinogram)
 EOG (Electro-oculogram)EOG (Electro-oculogram)
 DA (Dark adaptation)DA (Dark adaptation)
 PerimetryPerimetry
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.
Ocular AssociationsOcular Associations
 KeratoconnusKeratoconnus
 Posterior sub capsular cataractPosterior sub capsular cataract
 Open angle glaucomaOpen angle glaucoma
 MyopiaMyopia
 Vitreous detachmentVitreous detachment
Atypical Retinitis PigmentosaAtypical Retinitis Pigmentosa
 Cone-rod dystrophyCone-rod dystrophy
 Retinitis pigmentosa albescensRetinitis pigmentosa albescens
 Sector RPSector RP
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
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”
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
THANK YOUTHANK YOU

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Retinitis pigmentosa

  • 1.
  • 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
  • 7. Provisional DiagnosisProvisional Diagnosis Night BlindnessNight Blindness (Nyctalopia)(Nyctalopia)
  • 8. Differential DiagnosisDifferential Diagnosis  CataractCataract  Night Blindness (Vitamin A deficiency)Night Blindness (Vitamin A deficiency)  Chronic simple GlaucomaChronic simple Glaucoma  High myopiaHigh myopia  Stationary night blindnessStationary night blindness  Retinitis PigmentosaRetinitis Pigmentosa
  • 9. ExaminationExamination  Well oriented young manWell oriented young man Vitals:Vitals:  Blood pressure 110/80 mmhgBlood pressure 110/80 mmhg  Pulse 80/min,Pulse 80/min,  Temp 98 degree.Temp 98 degree.  Systemic examination was normalSystemic examination was normal
  • 10. ExaminationExamination RIGHT EYERIGHT EYE LEFT EYELEFT EYE VISIONVISION 6/66/6 6/66/6 OCULAROCULAR MOTILITYMOTILITY NORMALNORMAL NORMALNORMAL PUPILLLARYPUPILLLARY REACTIONREACTION NORMALNORMAL NORMALNORMAL
  • 11. ExaminationExamination RIGHT EYERIGHT EYE LEFT EYELEFT EYE IOPIOP 1212 1010 CONJUNCTIVACONJUNCTIVA NORMALNORMAL NORMALNORMAL CORNEACORNEA CLEARCLEAR CLEARCLEAR ANTERIORANTERIOR CHAMBERCHAMBER NORMALNORMAL NORMALNORMAL LENSLENS NORMALNORMAL NORMALNORMAL
  • 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
  • 13. DiagnosisDiagnosis RETINITIS PIGMENTOSA (RP)RETINITIS PIGMENTOSA (RP) • HistoryHistory • Bone-spicule pigmentBone-spicule pigment • Waxy pale optic discWaxy pale optic disc
  • 14. FundusFundus NORMAL FUNDUSNORMAL FUNDUS RETINITISRETINITIS PIGMENTOSAPIGMENTOSA
  • 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
  • 16. Inheritance patternInheritance pattern Autosomal recessive - most common type of RP. The chance of having this condition is higher if the parents are related (for example, cousins).
  • 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
  • 27. SignsSigns  Pigment clumpsPigment clumps  Optic atrophyOptic atrophy  Macular atrophyMacular atrophy
  • 28. Diagnostic ToolsDiagnostic Tools  ERG (Electroretinogram)ERG (Electroretinogram)  EOG (Electro-oculogram)EOG (Electro-oculogram)  DA (Dark adaptation)DA (Dark adaptation)  PerimetryPerimetry
  • 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
  • 31. Atypical Retinitis PigmentosaAtypical Retinitis Pigmentosa  Cone-rod dystrophyCone-rod dystrophy  Retinitis pigmentosa albescensRetinitis pigmentosa albescens  Sector RPSector RP
  • 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