Abetalipoproteinemia with angioid streaks, choroidal neovascularization, atrophy, and extracellular deposits revealed by multimodal retinal imaging
We propose that mutated MTTP within the retina may contribute to ABL retinopathy in addition to systemic deficiencies of fat-soluble vitamins. This concept is supported by a new mouse model with RPE-specific MTTP deficiency and a retinal degeneration phenotype. The observed range of human pathology, including angioid streaks, underscores the need for continued monitoring in adulthood, especially for CNV, a treatable condition.
Authors
- Christine A. Curcio (ORCID: https://orcid.org/0000-0001-9769-1538)
- K. Bailey Freund (ORCID: https://orcid.org/0000-0002-7888-9773)
- Jacques Bijon
- M. Mahmood Hussain (ORCID: https://orcid.org/0000-0002-9663-300X)
- Cindy Bredefeld (ORCID: https://orcid.org/0000-0001-9166-9006)
- Kathleen Boesze‐Battaglia (ORCID: https://orcid.org/0000-0003-0962-0508)
Institutions
- University of Alabama at Birmingham (US)
- Vitreous Retina Macula Consultants of New York (US)
- New York University (US)
- University of Pennsylvania (US)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2024-10-07
- DOI
- https://doi.org/10.1080/13816810.2024.2411290
- Citations
- 2
- Primary Topic
- Retinal Diseases and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 1.08
Funders
- Macula Foundation
- National Institutes of Health