14. ... associated with systemic disease Flashcards
1
Q
poor/declining vision in infant with diminished/extinguished ERG at birth
A
Leber congenital amaurosis. screen for congenital syndromes and metabolic disorders that affect retina
2
Q
Bardet-Biedl Syndrome
A
group of diseases. pigmentary retinopathy, obesity, polydactyly, hypogonadism, mr, rod-cone dystrophy sine-pigmento, bull’s maculopathy. Protein regulate microtubule-based intracellular transport. AR?
3
Q
Pigmentary retinopathy + hearing loss
A
Usher syndrome, Alport, Alström, Cockayne, Hurler, Refsum, congenital rubella, spondyloepiphyseal dysplasia
