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Retinitis Pigmentosa..

Retinitis pigmentosa is a group of inherited retinal diseases that cause the breakdown and loss of cells in the retina. It primarily affects rods, resulting in poor night vision and peripheral vision loss. Over time, cones are also affected, leading to decreased color vision and central blindness. Retinitis pigmentosa can be inherited in autosomal dominant, autosomal recessive, or X-linked patterns. It has a prevalence of 1 in 5,000 people worldwide and typically causes progressive vision loss from childhood into middle age. Clinical features include night blindness, tunnel vision, pale optic discs, bony spicule pigmentation, and changes seen on electroretinography and electrooculography tests.

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Kishan S Gowda
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66 views20 pages

Retinitis Pigmentosa..

Retinitis pigmentosa is a group of inherited retinal diseases that cause the breakdown and loss of cells in the retina. It primarily affects rods, resulting in poor night vision and peripheral vision loss. Over time, cones are also affected, leading to decreased color vision and central blindness. Retinitis pigmentosa can be inherited in autosomal dominant, autosomal recessive, or X-linked patterns. It has a prevalence of 1 in 5,000 people worldwide and typically causes progressive vision loss from childhood into middle age. Clinical features include night blindness, tunnel vision, pale optic discs, bony spicule pigmentation, and changes seen on electroretinography and electrooculography tests.

Uploaded by

Kishan S Gowda
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Download as PPTX, PDF, TXT or read online on Scribd
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RETINITIS

PIGMENTOSA

MUSKAN FATHIMA
ROLL NO: 66
FROM: 51-70
OBJECTIVES :
>INTRODUCTION
>INHERITANCE
>INCIDENCE
>CLINICAL FEATURES
>ATYPICAL FORMS
RETINITIS
PIGMENTOSA
Primary pigmentary retinal dystrophy
• It is a group of inherited disease affecting
the photoreceptor
• Rods ,which provides peripheral vision
and night vision are affected more than
cones that provide color and central
vision
INHERITANCE :
• Sporadic disorder: (40-50%)
>Due to mutation of multiple gene including rhodopsin gene

• Inherited disorder:
>Autosomal dominant RP (adRP) : 15-25% , least severe with
best prognosis
>Autosomal recessive RP (arRP) : 5-20% , Intermediate severity
>X-linked recessive (XLR) : 5-15% , most severe ,worst
prognosis
Simplex -isolated cases with one affected
Multiplex -at least two family members are affected
INCIDENCE
• Prevalence - 1/5000 of world population
• Age - appears in childhood and progressess
slowly ,often resulting in blindness in
advanced middle age.
• Sex - males > females (3:2)
• laterality-bilateral and both eyes are affected
equally
PATHOGENESIS:
• Apoptosis involving death of rods and cones
• Typical retinitis pigmentosa i.e rod - cone
dystrophy, where
>Rods are degenarated early
>Cones are involved late
Clinical features :
Symptoms
• Night blindness (nyctalopia)
• Dark adaptation
• Tubular vision
• Loss of central vision
• Photopsia
Early stage of RP: late stage of RP:
Signs
• Arteriolar attenuation
>Narrowing or thread like retinal arterioles
• Bony spicule pigmentation
>Perivascular jet black spots around veins
• Optic disc pallor
>pale and waxy optic disc ultimately
Consecutive optic atrophy
• other changes -colloid bodies, choroidal sclerosis, macular
oedema ,atrophic or cellophane maculopathy
Visual field changes
• Annular or ring -shaped scotoma

Tubular vision ( only central vision left)

Eventually blindness
Electrophysiological changes
1. Electroretinogram (ERG)-subnormal b-wave
affected before a- wave ,and eventually
extinguished.
2. Electro-oculogram (EOG)-subnormal with absence
of light peak.
Atypical forms :
• Retinitis pigmentosa sine pigmento -
No visible pigmentary changes
Sectorial retinitis pigmentosa -
-involvement of one sector of retina

.pericentric retinitis pigmentosa -


Pigmentary changes confined to an
area, immediately around macula.
• Retinitis punctata albescens-
1. Presence of innumerable discrete white dots over fundus
without pigmentary changes
References:
• Comprehensive ophthalmology -AK khurana
• Parson's diseases of the eye -23rd edition

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