How many genes are associated with inherited retinal dystrophies (IRDs)?
>260
<160
10
Question 01
There are >260 genes associated with IRDs, with many overlapping phenotypes. IRDs may result in the death of different cells in the retina, including RPE cells and photoreceptors (rods and cones). In rod-cone IRDs, rods are affected first, followed by degeneration of the cones, resulting in night blindness and progressive vision loss.
That's Correct!
In fact, there are >260 genes associated with IRDs, with many overlapping phenotypes. IRDs may result in the death of different cells in the retina, including RPE cells and photoreceptors (rods and cones). In rod-cone IRDs, rods are affected first, followed by degeneration of the cones, resulting in night blindness and progressive vision loss.
Incorrect!
Next Question
TEST YOUR LUXTURNA KNOWLEDGE
2,3
1
True
False
Night blindness is a hallmark symptom of an RPE65 mutation-associated IRD. RPE65 mutations result in a disruption of the visual cycle, leading to degeneration firstly of the rod then the cone photoreceptors. The hallmark symptom of rod degeneration is night blindness.
1-3
Night blindness (nyctalopia), an inability to see in low light conditions, is a hallmark symptom of an RPE65 mutation-associated IRD.
Question 02
TEST YOUR LUXTURNA KNOWLEDGe
It’s true – 90% of IRD patients are interested in having a genetic diagnosis for their disease. Genetic testing is part of the new standard of care for IRDs.
Actually, it’s true – 90% of IRD patients are interested in having a genetic diagnosis for their disease. Genetic testing is part of the new standard of care for IRDs.
*In a survey of IRD patients on their attitudes and views on genetic testing for diagnosis.
2
1*
The majority of inherited retinal dystrophies (IRD) patients are interested in having a genetic diagnosis for their disease.
Question 03
Loss of light sensitivity
Loss of sharpness or clarity of vision
Repetitive uncontrolled movements of the eye
IRDs have multiple phenotypes with overlapping signs and symptoms. Patients with RPE65 mutation-associated IRD may experience night blindness (nyctalopia), loss of light sensitivity, loss of sharpness or clarity of vision, repetitive uncontrolled movements of the eye (nystagmus), and/or impaired dark adaptation.
Actually, the answer is ‘all of the above’. IRDs have multiple phenotypes with overlapping signs and symptoms. Patients with IRDs gene may experience night blindness (nyctalopia), loss of light sensitivity, loss of sharpness or clarity of vision, repetitive uncontrolled movements of the eye (nystagmus), and/or impaired dark adaptation.
All of the above
Which of the following are symptoms associated with an RPE65 mutation-associated IRD?
Question 04
There are >260 genes associated with IRDs, with many overlapping phenotypes. Therefore, genetic testing is the only way to confirm an IRD associated with biallelic mutations in the RPE65 gene.
How did you do?
Genetic testing is the only way to confirm a molecular diagnosis of an RPE65 mutation-associated IRD.
Question 05
You scored 5/5 in our Luxturna Knowledge Quiz
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You scored in our Luxturna Knowledge Quiz
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