NEUROSCI 3J03: Visual Neuroscience Dr. N.

Piskuric
Winter 2024
CASE STUDY 2: Nyctalopia

This case follows the story of an adorable little girl named Nikol who visited Toronto’s SickKids
Hospital in the summer of 1995. She made a flippant comment about her vision that triggered a
cascade of doctor’s visits that wouldn’t conclude until 25 years later, in the summer of 2019!

This case will be presented as a series of problems sets. With each problem set, new patient
information will be disclosed. By the end of the case study, you should be able to:
1. Diagnose Nikol’s condition and provide evidence for that diagnosis.
2. Describe several paraclinical tests (VEPs, ERGs, genetic testing) that are used to assess
vision in humans and explain when and why each test is used.
3. Describe the neuropathology underlying Nikol’s eye condition at the cell and circuit
level.
4. Describe treatments available for Nikol’s condition and explain why other treatments are
not appropriate/applicable.
5. Understand how and why Nikol’s condition affects her life.

~~~

The problem sets in this series will be available in Avenue to Learn under Content > Case Study
Assignments > Case Study 2: Nyctalopia. According to the interrupted case study method, you
must complete the problem set below and submit it to Avenue to Learn in order to “unlock” the
second problem set in the series. After submitting the second problem set you will unlock the
third problem set. There are 3 problem sets in total.

Assignment Guidelines

Due date: Sunday, March 24th, 2024

Total marks available: 70
Total grade value: 15%

All three (3) components of Case Study 2 are due on Sunday, March 24th at 11:59 pm. Each
problem set is roughly equal (but not identical) in length and difficulty. Each problem set
requires you to perform further research in order to answer the questions. Please allow yourself
sufficient time to answer each problem set. Below is a recommended timeline for completing
each of the problem sets in this series; all dates are flexible except for the final deadline.

Component Suggested Deadline Number of Marks Value (%)

Part 1 Sun. Mar. 10 28 5
Part 2 Sun. Mar. 17 21 5
Part 3 Sun. Mar. 24* 21 5
*This is the final, firm due date when all 4 components are due.

Please make a copy of this document and rename it Last name_First name_CS2-3 (e.g., Piskuric
Nikol_CS2-3). If you are completing Case Study 2 with a partner, please name your document
Lastname1_Lastname2_CS2-3. Edit the title page below to include your personal information.
NEUROSCI 3J03: Visual Neuroscience Dr. N. Piskuric
Winter 2024
Then, write your answers immediately below each question. Finally, please submit your
assignment as a Microsoft Word document into the appropriate submission folder in Avenue to
Learn.
NEUROSCI 3J03: Visual Neuroscience Dr. N. Piskuric
Winter 2024

Case Study 2: Nyctalopia

Part 3

Full Name(s)
Student Number(s)
Email address(es)
NEUROSCI 3J03: Visual Neuroscience Dr. N. Piskuric
Winter 2024
CASE STUDY: Nyctalopia

Part 3: Genetic Inheritance Patterns

It turns out that Nikol’s brother did not have mutations in the RP1, Rho or RDS genes. In
2012, Nikol’s brother was contacted by SickKids Hospital because genetic testing for CSNB had
improved since the 1990’s. This time, Nikol’s brother was tested for mutations in 13 different
genes, all of which had been implicated in human cases of CSNB. These genes included CABP4,
CACNA1F, GNA21, GPR179, GRK1, GRM6, NYX, PDE6B, RDH5, RHO, SAG, SLC4A1,
TRPM1.

Below is part of a letter that Nikol’s brother received from a genetic counsellor,
describing his genetic test results.

1. CSNB is a heterogeneous group of retinal disorders. What are the different types of CSNB?
What genetic and clinical features distinguish the forms of CSNB from each other? Which
form of CSNB best matches Nikol’s medical history? Are the genetic test results above
consistent with this diagnosis? Why or why not? (6 marks)

2. What does the GPR179 gene encode? Which retinal cell types express this gene, and what is
the normal role of this protein in the retina? (3 marks)

3. Explain how a mutation in GPR179 affects signaling in the retina. How can this lead to night
blindness? Why doesn’t this mutation affect the photopic system? (4 marks)
NEUROSCI 3J03: Visual Neuroscience Dr. N. Piskuric
Winter 2024
4. Nikol has two children named Oliver and Nate. Should she be concerned that her children
also have night blindness? Given that Nikol’s husband (the boys’ father) is of South Asian
descent and Nikol is of Eastern European descent, do you think it is likely that Nikol’s
genetic condition will be passed on to her children? Why or why not? (3 marks)

5. Review the Guide for Assessing Persons with Disabilities on the Government of Canada
website. Would you consider Nikol to be a person with a disability on the basis of her night
blindness? Justify your answer. (2 marks)

6. Some persons have obvious disabilities; for example, they may use a wheelchair or a walking
stick. Other conditions are invisible; for example, no one would know that Nikol is night
blind unless she tells them. How do you think that impacts her life? (2 marks)

7. Please include a reference list in APA format. (1 mark)

Place yourself in the following scenarios, all of which Nikol has experienced. How would you
feel if you were Nikol? What would you do? (You do not need to submit your answers. We will
discuss these scenarios in class.)

Scenario A: Nikol is attending a grade 8 year-end trip at an overnight camp. One of the trip
events is a night hike through the forest. Nikol is afraid and has to hold the teacher’s hand during
the hike.

Scenario B: Nikol can’t see stars in the night sky. As a teenager, Nikol and her friends visit The
Rainforest Café, a jungle-themed restaurant that has an illuminated ceiling that looks like the
sky. Nikol sees stars for the first time.

Scenario C: Nikol is a 21-year-old undergraduate student. She and her friends go to a club on a
Friday night. Nikol can’t move around the club unless she is holding on to one of her friends.
She cannot see who she is talking to or read their facial expressions.

Scenario D: Nikol is a new mom, putting her sleeping infant to sleep. As she lays her son down
in his crib, she hits his head on the end of the crib by accident.

Scenario E: Nikol and her 2-year-old son have just returned home from a shopping trip. It is
dark, and they are alone on the driveway. Her son lets go of her hand and decides to play hide-
and-seek.

Scenario F: Nikol is putting her 6-year-old son to sleep. She turns out the light and leans in to
give him a hug, but he is not there. Her son moves around so that Nikol can’t find him; he thinks
it’s a funny game.

Scenario G: Nikol has been assigned to teach a night class. This means she has to stay on
campus until 10:00 pm and travel home alone.