Enhanced genotype-phenotype analysis using multimodal adaptive optics and 3D protein structure in Bietti Crystalline Dystrophy
Cyst-like changes may represent a new BCD degenerative feature. Characterizing retinal genetic disease variants with protein structural modeling and phenotyping with AOSLO represents an advanced approach for clinical diagnosis and may serve as a biomarker of disease progression.
Authors
- Vinit B. Mahajan (ORCID: https://orcid.org/0000-0003-1886-1741)
- Charles Q. Yu (ORCID: https://orcid.org/0000-0001-8095-2930)
- Alfredo Dubra (ORCID: https://orcid.org/0000-0002-6506-9020)
- Young Joo Sun (ORCID: https://orcid.org/0000-0002-8240-7378)
- Jennifer T. Vu
- Maurício G. S. Costa (ORCID: https://orcid.org/0000-0001-5443-286X)
- Aarushi Kumar
- Ditte K. Rasmussen (ORCID: https://orcid.org/0009-0007-0542-5189)
- Loh-Shan Leung (ORCID: https://orcid.org/0000-0001-8496-0698)
- Aubrey Hargrave (ORCID: https://orcid.org/0000-0002-5471-9331)
- C. I. Phillips
Institutions
- Palo Alto University (US)
- Aarhus University (DK)
- VA Palo Alto Health Care System (US)
- Fundação Oswaldo Cruz (BR)
- Smith-Kettlewell Eye Research Institute (US)
- Stanford University (US)
Publication Details
- Journal
- American Journal of Ophthalmology Case Reports
- Published
- 2025-03-22
- DOI
- https://doi.org/10.1016/j.ajoc.2025.102312
- Citations
- 1
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.81