Packet 8: Bonus 11

This broad set of genetic disorders causes progressive night blindness with ring scotomas, an extinguished ERG, and bone-spicule pigmentation with attenuated arterioles. For 10 points each:
[10h] Name this genetically heterogeneous cause of vision loss. The first FDA-approved AAV-based gene therapy, Luxturna, treats one form of this disease called Leber congenital amaurosis.
ANSWER: retinitis pigmentosa [or RP; prompt on inherited retinal dystrophy or IRD]
[10e] A palmitate derivative of this fat-soluble vitamin can slow loss of vision in retinitis pigmentosa. A derivative of this vitamin, retinal (“RET-in-AL”), is a cofactor for opsins.
ANSWER: vitamin A
[10m] PRPF31-associated autosomal-dominant RP is an example of this genetic phenomenon in which not all holders of a mutation show the corresponding phenotype. The blue sclera trait also displays this phenomenon.
ANSWER: incomplete penetrance [or reduced penetrance; prompt on penetrance]
<Editors, Biology> | H. Prelims 8 - Stanford A + Georgia Tech C + Columbia A + Columbia B

HeardPPBE %M %H %
209.0080%10%0%

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