Retinitis Pigmentosa

Question 1

What is retinitis pigmentosa (RP)?

Answer 1

Retinitis pigmentosa is a group of inherited disorders that cause progressive degeneration of the retina.

Question 2

What part of the eye is primarily affected in RP?

Answer 2

The photoreceptor cells in the retina, particularly the rods and later the cones.

Question 3

What are the main symptoms of RP?

Answer 3

Night blindness, peripheral vision loss (tunnel vision), and eventually central vision loss.

Question 4

What is the typical onset of symptoms in RP?

Answer 4

Symptoms often begin in childhood or adolescence but can vary depending on the genetic subtype.

Question 5

What causes RP?

Answer 5

Mutations in genes responsible for retinal photoreceptor function and maintenance.

Question 6

What are the genetic inheritance patterns of RP?

Answer 6

Autosomal dominant, autosomal recessive, and X-linked inheritance patterns are all possible.

Question 7

What is the pathophysiology of RP?

Answer 7

Mutations lead to dysfunction and apoptosis of photoreceptors, initially rods, followed by cones.

Question 8

What is the prevalence of RP?

Answer 8

RP affects approximately 1 in 4,000 people worldwide.

Question 9

What are the risk factors for RP?

Answer 9

Family history of RP or known genetic mutations associated with the condition.

Question 10

What are the hallmark fundoscopic findings in RP?

Answer 10

Bone-spicule pigmentation, attenuated retinal vessels, and optic disc pallor.

Question 11

What tests are used to diagnose RP?

Answer 11

Electroretinography (ERG), visual field testing, genetic testing, and fundoscopic examination.

Question 12

What are the differential diagnoses for RP?

Answer 12

Cone-rod dystrophy, Leber congenital amaurosis, and syndromic conditions like Usher syndrome.

Question 13

What is Usher syndrome?

Answer 13

A syndromic condition involving RP and sensorineural hearing loss.

Question 14

What are the stages of vision loss in RP?

Answer 14

Night blindness, loss of peripheral vision (tunnel vision), and eventually central vision loss.

Question 15

What are potential systemic associations with RP?

Answer 15

RP can be part of syndromes like Usher syndrome or Bardet-Biedl syndrome.

Question 16

What is the role of genetic counselling in RP?

Answer 16

Genetic counselling helps assess inheritance patterns and risk for family members.

Question 17

What is the conservative management of RP?

Answer 17

Using low-vision aids, optimising lighting, and emotional support for coping with vision loss.

Question 18

Are there any medical treatments for RP?

Answer 18

No definitive cure exists, but vitamin A supplementation and emerging gene therapies may slow progression.

Question 19

What surgical options are available for RP?

Answer 19

Retinal implants or prostheses, such as the Argus II retinal prosthesis, are experimental options.

Question 20

What is the role of electroretinography (ERG) in RP diagnosis?

Answer 20

ERG measures retinal response to light, showing reduced or absent signals in RP.

Question 21

What is the impact of RP on quality of life?

Answer 21

RP leads to progressive vision loss, affecting mobility, independence, and mental health.

Question 22

What lifestyle changes can help manage RP?

Answer 22

Avoiding smoking, wearing UV-protective eyewear, and regular monitoring of vision.

Question 23

What are experimental treatments for RP?

Answer 23

Gene therapy, stem cell therapy, and retinal implants are being researched.

Question 24

Why is early diagnosis important in RP?

Answer 24

Early diagnosis allows better planning, support, and potential participation in clinical trials.

Question 25

What is the prognosis for patients with RP?

Answer 25

Vision loss is progressive and irreversible, but supportive care can help maintain quality of life.