Clinical and Biochemical Characterization of Specific <i>GUCY2D</i> Alleles Associated With a Rare Form of Night Blindness
The apparent lack of retinal degeneration, clinical features, predominant and severe rod photoreceptor involvement, and relatively high degree of ERG stability are similar to rare forms of SNB. Biallelic disease-causing variants in GUCY2D are usually associated with Leber's congenital amaurosis (LCA); however, this study illustrates the phenotypic variability of GUCY2D retinopathies in association with variants not biochemically dissimilar to those causing LCA and highlights the complexity of RetGC1 regulation in rod and cone photoreceptor function.
Authors
- Siying Lin (ORCID: https://orcid.org/0000-0003-1122-8396)
- Alexander M. Dizhoor (ORCID: https://orcid.org/0000-0001-6770-9186)
- Catherine Egan (ORCID: https://orcid.org/0000-0001-5593-1169)
- Elena V. Olshevskaya
- Anthony G. Robson (ORCID: https://orcid.org/0000-0002-8391-6123)
- Rola Ba‐Abbad (ORCID: https://orcid.org/0000-0002-6301-2899)
- Igor V. Peshenko
- Gavin Arno
- Omar A. Mahroo (ORCID: https://orcid.org/0000-0003-1254-0832)
- Malena Daich Varela (ORCID: https://orcid.org/0000-0003-4960-4510)
- Andrew R. Webster (ORCID: https://orcid.org/0000-0001-6915-9560)
Institutions
- Drexel University Elkins Park Campus (US)
- Manchester Royal Eye Hospital (GB)
- University of Manchester (GB)
- Manchester University NHS Foundation Trust (GB)
- King Khaled Eye Specialist Hospital (SA)
- Moorfields Eye Hospital (GB)
- Genomics (United Kingdom) (GB)
- University College London (GB)
- Drexel University (US)
Publication Details
- Journal
- Investigative Ophthalmology & Visual Science
- Published
- 2025-06-06
- DOI
- https://doi.org/10.1167/iovs.66.6.22
- Citations
- 1
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- Pennsylvania Department of Health
- National Institutes of Health
- Medical Research Council