A novel frameshift variant in <i>LAMP2</i> gene mimicking choroideremia carrier retinopathy
Recording previous medical history and extraocular symptoms is crucial. The similarity in choroideremia carrier and Danon disease retinal phenotypes suggests a possible common pathway in these two genes where pathogenic variants lead to retinal pigment epithelium degeneration.
Authors
- Laura J. Taylor (ORCID: https://orcid.org/0000-0001-7072-0853)
- Morag E. Shanks
- Robert E. MacLaren (ORCID: https://orcid.org/0000-0002-3096-4682)
- Jasmina Cehajic‐Kapetanovic (ORCID: https://orcid.org/0000-0002-9956-6412)
- Akshay Narayan (ORCID: https://orcid.org/0000-0002-4955-1781)
- Sian Sperring
- Penny Clouston
Institutions
- Churchill Hospital (GB)
- University of Oxford (GB)
- Oxford University Hospitals NHS Trust (GB)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2024-09-19
- DOI
- https://doi.org/10.1080/13816810.2024.2404148
- Citations
- 2
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.47
Funders
- Fight for Sight
- National Institute for Health and Care Research