A novel homozygous nonsense variant in <i>CABP4</i> causing stationary cone/rod synaptic dysfunction
A novel variant in <i>CABP4</i> is associated with stationary cone and rod dysfunction resulting in decreased acuity, color deficit, and photophobia, but not nyctalopia.
Authors
- Rachel M. Huckfeldt (ORCID: https://orcid.org/0000-0002-9220-2261)
- Blake M. Hauser (ORCID: https://orcid.org/0000-0002-0100-1684)
- Demetrios G. Vavvas (ORCID: https://orcid.org/0000-0002-8622-6478)
- Emily Place (ORCID: https://orcid.org/0000-0002-1748-5644)
Institutions
- Massachusetts Eye and Ear Infirmary (US)
- Harvard University (US)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2024-08-15
- DOI
- https://doi.org/10.1080/13816810.2024.2371875
- Citations
- 1
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.23
Funders
- National Institute of General Medical Sciences
- National Institute of Allergy and Infectious Diseases