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
| Heard | PPB | E % | M % | H % |
|---|---|---|---|---|
| 20 | 9.00 | 80% | 10% | 0% |
Conversion
| Team | Opponent | Part 1 | Part 2 | Part 3 | Total | Parts |
|---|---|---|---|---|---|---|
| British Columbia | Cambridge | 0 | 10 | 0 | 10 | E |
| Bruin | Michigan | 0 | 10 | 0 | 10 | E |
| Chicago B | Illinois B | 0 | 10 | 0 | 10 | E |
| Georgetown | Swarthmore | 0 | 0 | 0 | 0 | |
| Georgia Tech A | Texas | 0 | 10 | 0 | 10 | E |
| Georgia Tech B | Toronto A | 0 | 10 | 0 | 10 | E |
| Harvard | Ohio State | 0 | 10 | 0 | 10 | E |
| Indiana | Waterloo | 0 | 10 | 0 | 10 | E |
| Maryland A | NYU B | 0 | 10 | 0 | 10 | E |
| Minnesota | Purdue | 0 | 0 | 0 | 0 | |
| North Carolina | Rutgers | 0 | 10 | 0 | 10 | E |
| Penn State | Virginia Tech | 0 | 0 | 0 | 0 | |
| Pittsburgh | MIT | 0 | 10 | 0 | 10 | E |
| Stanford B | Illinois A | 0 | 10 | 0 | 10 | E |
| Toronto B | Northwestern A | 0 | 10 | 10 | 20 | EM |
| UC Berkeley A | Virginia | 0 | 10 | 0 | 10 | E |
| UC Berkeley B | Brown | 0 | 10 | 10 | 20 | EM |
| UCLA | Maryland B | 0 | 10 | 0 | 10 | E |
| Vanderbilt | Northwestern B | 0 | 0 | 0 | 0 | |
| WashU | Chicago A | 0 | 10 | 0 | 10 | E |
Summary
| Tournament | Edition | Match | Heard | PPB | E % | M % | H % |
|---|---|---|---|---|---|---|---|
| Main Site | 2026-04-17 | ✓ | 20 | 9.00 | 80% | 10% | 0% |