Alterations of Photoreceptor Synaptic Ribbons in the Retina of a Human Patient With Oculocutaneous Albinism Type 1 (OCA1)
The OCA1 patients displayed similar defects of photoreceptor synaptic ribbons as previously observed in the albinotic mice with a defect in the tyrosinase gene. The observed alterations of synaptic ribbons are not due to mutations in the RIBEYE gene but are likely indirect consequences of the deficient melanin biosynthesis in the OCA1 patient.
Authors
- Thomas Tschernig (ORCID: https://orcid.org/0000-0002-7788-1796)
- Berthold Seitz
- Stephan Maxeiner (ORCID: https://orcid.org/0000-0002-4472-695X)
- U. Löw
- Karin Schwarz (ORCID: https://orcid.org/0000-0002-7328-1427)
- Frank Schmitz (ORCID: https://orcid.org/0000-0003-1457-6222)
- Fritz Benseler (ORCID: https://orcid.org/0009-0006-3846-9447)
- Ákos Koller (ORCID: https://orcid.org/0000-0003-3256-8701)
- Barbara Käsmann‐Kellner (ORCID: https://orcid.org/0000-0002-5137-8658)
- Nils Brose (ORCID: https://orcid.org/0000-0003-0938-8534)
- Gerd Geerling (ORCID: https://orcid.org/0000-0003-2034-3687)
Institutions
- Düsseldorf University Hospital (DE)
- Max Planck Institute for Multidisciplinary Sciences (DE)
- Heinrich Heine University Düsseldorf (DE)
- Saarland University (DE)
Publication Details
- Journal
- Investigative Ophthalmology & Visual Science
- Published
- 2025-10-08
- DOI
- https://doi.org/10.1167/iovs.66.13.14
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Universität des Saarlandes