Epidemiology, signs and symptoms of Inherited Retinal Dystrophies Flashcards

1
Q

What are the different main retinal dystrophies?

A

~ Retinitis pigmentosa
~ Cone/Rod dystrophy
~ Congenital stationary night blindness
~ Stargardt’s disease
~ Best’s vitelliform dystrophy

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2
Q

What is a genotype?

A

~ Your genetic classification
~ e.g. you have a mutated gene that codes for a protein that leads to a disease

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3
Q

What is a phenotype?

A

~ Physical appearance
~ e.g. you actually show the disease
* Whether this happens or not depends upon the mode of inheritance (dominant or recessive) and the penetrance

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4
Q

What is X-linked?

A

~ The gene is coded on the X chromosome
~ Females have 2, males have 1

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5
Q

What is autosomal?

A

~ The gene is coded on one of the 22 non-sex chromosomes
~ You get one of these from your mother and one of these from your father

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6
Q

What is dominant?

A

~ In order to show the phenotype you only require 1 mutated gene

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7
Q

What is recessive?

A

~ In order to show the phenotype you require 2 copies of the mutated gene

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8
Q

What is penetrance?

A

~ Even if you have the genotype you may not get a severe form of the disease

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