Retinitis Pigmentosa

Case

20 year old boy presented with complaint

• Gradual decrease in night vision - 6 months

History

• Presented with a slow and gradual decrease in vision after dark

• Problem increased for past 1 months• No associated headache ,ocular pain,

fever or vomiting

Past History

• No history of trauma• No history of any prolong illness• No history of diabetes, hypertension or

any other systemic disease.• No drug history or any known drug

allergies

Family History

• Lives with parents and two younger brothers, all healthy

• Positive family history of night blindness in maternal grandfather

Provisional Diagnosis

Night Blindness

Differential Diagnosis• Cataract• Night Blindness (Vitamin A deficiency) • Chronic simple Glaucoma• High myopia• Stationary night blindness• Retinitis Pigmentosa

Examination

• Well oriented young manVitals:• Blood pressure 110/80 mmhg• Pulse 80/min,• Temp 98 degree.

• Systemic examination was normal

Examination

RIGHT EYERIGHT EYE LEFT EYELEFT EYE

VISIONVISION 6/66/6 6/66/6OCULAR OCULAR MOTILITYMOTILITY

NORMALNORMAL NORMALNORMAL

PUPILLLARY PUPILLLARY REACTIONREACTION


Examination

RIGHT EYERIGHT EYE LEFT EYELEFT EYE

IOPIOP 1212 1010CONJUNCTIVACONJUNCTIVA NORMALNORMAL NORMALNORMAL

CORNEACORNEA CLEARCLEAR CLEARCLEARANTERIORANTERIORCHAMBERCHAMBER


LENSLENS NORMALNORMAL NORMALNORMAL

Diagnosis

RETINITIS PIGMENTOSA (RP)•History•Bone-spicule pigment•Waxy pale optic disc

Fundus

NORMAL FUNDUSNORMAL FUNDUS RETINITIS RETINITIS 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 Pigmentosa

Inheritance patternAutosomal recessive - most common type of RP. The chance of having this condition is higher if the parents are related (for example, cousins).

Inheritance 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 patternX 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 Criteria

SYMPTOMS• Bilateral Involvement• Loss of peripheral vision (Tunnel vision)• Loss of night vision (nyctalopia)SIGNSClassical Triad Retinal bone-spicule pigment Arteriolar attenuation Waxy disc pallor

Triad

Why Nyctalopia and tunnel vision?

• Rods detect low light levels. • Rods, found in greater numbers than cones,

are located across the entire retinal surface. There is a higher concentration of rods around the periphery (edges) of the retina, which allows you to see what is above, below and to the sides of the object you are 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).

SignsIn chronological order :• Arteriolar narrowing• Peripheral bone-spicule pigments

Signs• Gradual increase in density of the

pigments and anterior and posterior spread

Signs• Severe arteriolar narrowing• Waxy pallor of optic disc

• RETINITIS PIGMENTOSA

Signs• Pigment clumps• Optic atrophy• Macular atrophy

Diagnostic Tools

• ERG (Electroretinogram)• EOG (Electro-oculogram)• DA (Dark adaptation)• Perimetry

Prognosis

• AR has favorable prognosis, retention of central vision until 5th-6th decade.

• AD best prognosis, retention of central vision beyond 6th decade

• XL worst prognosis with severe visual loss by the 4th decade.

Ocular Associations

• Keratoconnus• Posterior sub capsular cataract• Open angle glaucoma• Myopia• Vitreous detachment

Atypical Retinitis Pigmentosa

• Cone-rod dystrophy• Retinitis pigmentosa albescens• Sector 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 Research

Treatment 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 Life

• Find best vision field. • Use low vision devices if necessary. • Rearrange the furniture to reduce the

risk of stumbling or bumping into things.• Have a support system• Tell your family about ways in which they

can help you • GENETIC COUNSELING

THANK YOU

Education

Retinitis Pigmentosa