Retinitis Pigmentosa Flashcards
What is retinitis pigmentosa (RP)?
Retinitis pigmentosa is a group of inherited disorders that cause progressive degeneration of the retina.
What part of the eye is primarily affected in RP?
The photoreceptor cells in the retina, particularly the rods and later the cones.
What are the main symptoms of RP?
Night blindness, peripheral vision loss (tunnel vision), and eventually central vision loss.
What is the typical onset of symptoms in RP?
Symptoms often begin in childhood or adolescence but can vary depending on the genetic subtype.
What causes RP?
Mutations in genes responsible for retinal photoreceptor function and maintenance.
What are the genetic inheritance patterns of RP?
Autosomal dominant, autosomal recessive, and X-linked inheritance patterns are all possible.
What is the pathophysiology of RP?
Mutations lead to dysfunction and apoptosis of photoreceptors, initially rods, followed by cones.
What is the prevalence of RP?
RP affects approximately 1 in 4,000 people worldwide.
What are the risk factors for RP?
Family history of RP or known genetic mutations associated with the condition.
What are the hallmark fundoscopic findings in RP?
Bone-spicule pigmentation, attenuated retinal vessels, and optic disc pallor.
What tests are used to diagnose RP?
Electroretinography (ERG), visual field testing, genetic testing, and fundoscopic examination.
What are the differential diagnoses for RP?
Cone-rod dystrophy, Leber congenital amaurosis, and syndromic conditions like Usher syndrome.
What is Usher syndrome?
A syndromic condition involving RP and sensorineural hearing loss.
What are the stages of vision loss in RP?
Night blindness, loss of peripheral vision (tunnel vision), and eventually central vision loss.
What are potential systemic associations with RP?
RP can be part of syndromes like Usher syndrome or Bardet-Biedl syndrome.
What is the role of genetic counselling in RP?
Genetic counselling helps assess inheritance patterns and risk for family members.
What is the conservative management of RP?
Using low-vision aids, optimising lighting, and emotional support for coping with vision loss.
Are there any medical treatments for RP?
No definitive cure exists, but vitamin A supplementation and emerging gene therapies may slow progression.
What surgical options are available for RP?
Retinal implants or prostheses, such as the Argus II retinal prosthesis, are experimental options.
What is the role of electroretinography (ERG) in RP diagnosis?
ERG measures retinal response to light, showing reduced or absent signals in RP.
What is the impact of RP on quality of life?
RP leads to progressive vision loss, affecting mobility, independence, and mental health.
What lifestyle changes can help manage RP?
Avoiding smoking, wearing UV-protective eyewear, and regular monitoring of vision.
What are experimental treatments for RP?
Gene therapy, stem cell therapy, and retinal implants are being researched.
Why is early diagnosis important in RP?
Early diagnosis allows better planning, support, and potential participation in clinical trials.
What is the prognosis for patients with RP?
Vision loss is progressive and irreversible, but supportive care can help maintain quality of life.
