Inherited Disease Flashcards
What is retinitis pigmentosa?
A description of what is seen on the retina in inherited progressive degenerations of the retina
Affects rod-photo receptors more than the cones
What are the symptoms of retinitis pigmentosa?
night blindness (since rods are affected)
decreased peripheral vision
glare (from cataract)
What does CSNB stand for?
congenital stationary night blindness
What is CSNB?
night blindness, unlike RP, does not progress.
What is cone dystrophy?
Progressive deterioration of the cone retinal photoreceptors. Since cones are concentrated at the centre and provide colour vision, central visual loss and loss of colour vision are symptoms.
What is albinism?
failure of normal melanin characteristics.
ocular features include nystagmus, decreased visual acuity, strabismus (crossed eye), hypopigmented iris and pallor of fundus.
