21-Sep-19 Common Clinical Conditions 1

RETINITIS PIGMENTOSA

By Dhruval Parekh

Common Clinical Conditions

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Contents
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Condition:

• Retinitis pigmentosa (RP) is a group of rare, genetic

disorders that involve a breakdown and loss of cells in
the retina

http://drstevensoong.com/wp-content/uploads/2015/01/retinitis_pigmentosapic.jpg
https://www.aao.org/eye-health/diseases
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CONDITION

It is also termed as pigmentary retinal

dystrophies
There is no inflammation present
Diffuse retinal dystrophy affecting rod system

Image courtesy : http://www.improveeyesighthq.com/retinitis-pigmentosa.html

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INHERITANCE
• Occurs due to the mutation of the rhodopsin gene
• It may be due to isolated sporadic disorder or inherited
autosomal dominant, autosomal recessive, X linked
manner
• May be associated with certain systemic disorders
,usually AR

CLINICAL OPHTHALMOLOGY ,by JACK.K.KANSKI,5TH EDITION

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TYPES OF INHERITANCE
• Isolated - without any family history- common
• Autosomal dominant is also common and has best
prognosis
• Autosomal recessive - an intermediate prognosis-less
common
• X linked – less common -but severe
• Female carrier- normal fundi - golden metallic tapetal
reflex- temporal to macula- atrophic- pigmentary
peripheral irregularities

CLINICAL OPHTHALMOLOGY ,by JACK.K.KANSKI,5TH EDITION

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PREVALENCE

Literature Prevalence

Sen P, Bhargava A, George R, Ve Ramesh S, Hemamalini 0.155%

A, Prema R, Kumaramanickavel G, Vijaya L
Prevalence of retinitis pigmentosa in South Indian
population aged above 40 years, 2001

Nangia V, Jonas JB, Khare A, Sinha A. 1 of 750

Prevalence of retinitis pigmentosa in India: the
Central India Eye and Medical Study, 2012
ANATOMY:
• RODS:
• Photosensitive pigment-rhodopsin
• 40-60µm long
• Outer segment – cylindrical,discs
• Inner segment – thicker than outer
• 120 million rods
• 600-1000 discs /rod
• Absent in fovea
• Denser in optic disc
• Lateral process- rod spherule
• FUNCTIONS :
– Peripheral vision
– Vision of low illumination(scotopic)
 • CONES:
• Photosensitive pigment- photopsin
• 40-80 µm long
• Outer segment- conical ,discs
• 1000-1200 discs/cone
• 6.5 million cones
• Denser at fovea
• Lateral process- cone pedicle

• Functions:
• Highly discriminative central vision(photopic)
• Color vision
COMPREHENSIVE OPHTHALMOLOGY; A.K.KHURANA
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• RPE photoreceptor interface has disturbances.

Image courtesy : National eye institute

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PATHOPHYSIOLOGY :
• Primary defect in the rod and cone photoreceptors

•Rods,cones-outer segments -shortened and disorganized

in the patient’s best field of vision

•While in the area of visual loss; there was total loss of

outer segments and a decrease in photoreceptors number

http://eyewiki.aao.org/Retinitis_Pigmentosa
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• Two types of pigmented cells were found invading the

retina:

• Typical RPE cells that were migrating away from the retinal
pigment epithelial layer
• macrophage-like cells that contains melanin
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• RP-mutations in an array of functionally different

proteins-Apoptosis of the rod and cone receptors

http://bestpractice.bmj.com/best-practice/monograph/1144/basics/pathophysiology.html
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SYMTOMS:
• Night blindness
• Patchy loss of peripheral vision
• Ring shaped scotoma
• Tunnel vision

Disorders of retina and vitreous ,A.K.Khurana

http://www.rsb.org.au/retinitis-pigmentosa
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SIGNS:
• Arteriolar narrowing ,fine dust-like intraretinal
pigmentation
• Loss of RPE – RP sine pigmento
• Scattered white dots- equator- retinitis punctata albescens
• Mid-peripheral ,coarse,perivascular bone-
spicule,pigmentary changes
• Gradual increase in density of the pigmentary changes
with spread anteriorly and posteriorly

CLINICAL OPHTHALMOLOGY ,by JACK.K.KANSKI,5TH EDITION

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CLINICAL OPHTHALMOLOGY ,by JACK.K.KANSKI,5TH EDITION

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IMAGE COURTESY: http://www.rpfightingblindness.org.uk/index.php?pageid=204&tln=aboutrp

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CLINICAL PROCEDURES

1.History:
Complaints of night blindness
Peripheral visual field loss.
In some cases central vision loss
2.Visual acuity:
Vision loss is slow and gradual
3.Colour Vision:
Usually not very much affected.

CLINICAL OPHTHALMOLOGY ,by JACK.K.KANSKI,5TH EDITION

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4.Fundus Imaging:
Vascular attenuation
Pigmentary changes- bone spicule
Retinitis pigmentosa albescens
5.ERG:
Essential for RP diagnosis.
Reduction in a and b wave amplitude.
In advanced stage - non detectable ERG.
6.EOG:
Arden ratio = < 1.65 to 1.80 = subnormal
7.DA:
Prolonged

CLINICAL OPHTHALMOLOGY ,by JACK.K.KANSKI,5TH EDITION

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8.FA:
Areas of hyper and hypofluorescense

9.HVF:
• Essential for RP diagnoses
• Standard protocols-30-2,24-2,10-2
• Mid peripheral scotoma

http://eyewiki.aao.org/Retinitis_Pigmentosa
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SYSTEMIC ASSOCIATIONS

1. Bassen kornsweig syndrome

2. Refsum disease
3. Usher syndrome
4. Kearns sayre syndrome
5. Bardet biedl syndrome

CLINICAL OPHTHALMOLOGY ,by JACK.K.KANSKI,5TH EDITION

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PROGNOSIS:

• Long term prognosis - poor

• Eventual loss of central vision (fovea involvement in RP)
• Daily administration - vitamin A - retard progression of
RP
• 25% - good V/A , despite an extinguished ERG, 2-3'
central field
• Under 20 yrs- V/A - 6/60
• At 50 yrs- V/A worse than 6/60.

Comprehensive ophthalmology: A .K Khurana 4th edition

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ATYPICAL RP:
• Pericentral RP :
• Pigmentary abnormalities emanate from disc
• Extend along temporal arcades and nasally

• RP with exudative vasculopathy:

• Coat’s disease like appearance
• Lipid deposition at peripheral
retina
• exudative Retinal detachment
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• Retinitis punctata albescens:

• Scattered white dots –
numerous-equator-associated
with vascular attenuation

• Sector RP:
• One quadrant or one half
• Remains stationary
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MANAGEMENT OF RETINITIS
PIGMENTOSA
• Treatment is mainly not satisfactory ,rather we can say
that till date there is no effective treatment for this
disease

• Management of retinitis pigmentosa includes

1. Measures to stop its progression

2. Low vision aids
3. Rehabilitation
4. Prophylaxis
Comprehensive ophthalmology: A .K Khurana 4th edition
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MEASURES TO STOP ITS PROGRESSION

• Vaso dilators
• Placental extracts
• Transplantation of rectus muscles into suprachoroidal
space
• Light exclusion therapy
• Ultrasonic therapy
• Acupuncture therapy
• Recently vitamin A and E have been recommended to
check its progression

Comprehensive ophthalmology: A .K Khurana 4th edition

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Low vision aids (LVA)

• Magnifying glasses • Field expanders

https://www.enhancedvision.co.uk/low-vision-product-line.html https://www.ocutech.com/product/aids-for-tunnel-vision/
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• Absorptive lenses • Night vision device

https://www.walmart.com/ip/Cocoons-Fit-Over-Low-Vision-
Absorptive-Filters-Aviator-OveRx-Glasses-Black-Frame-Lemon- http://bemeyers.com/product/bnvd-sg/
Lens-140mm-x-51mm-X-Large/130231660
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OTHER LVAs

• Field expanders – Reversible Galilean telescope

• Mirrors
• Contact lens combined reversible telescope
• Red/orange filter – to improve contrast
• Halogen bulbs- to increase the light level

Dr.EV’s practice of low vision care

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REHABILITATION
• Rehabilitation of the patient must be carried out as per
his socio economic background

PROPHYLAXIS

• Genetic counselling for no consanguineous marriages

may help to reduce the incidence of disease
• Further affected individuals should be advised not to
produce children

Comprehensive ophthalmology: A .K Khurana 4th edition

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1.The outer disc 5.Phagocytic cells

segments of the invade the retina to
photoreceptors clean up the remains of
start degenerating the dead
and shortens photoreceptor cells
7.Neural connections
2.The fragments of between cells are lost and
outer discs segments nerve fibers become 6.The
accumulate in the RPE atrophied architecture
cells of the retina
becomes
disrupted
and
3.Pigment irregular.
deposits from 4.The photoreceptors
RPE distributes eventually undergo
throughout the death through
retina. apoptosis

www.qcvisual.com