S1 Fig -
<p>Representative fundus photographs and angiographs for each VHL mutation group: (A) Truncating Variant Group (TR), (B) Hypoxia-Inducible Factor-1alpha Binding Site Missense Mutations Group (HM), and (C) Non-Hypoxia-Inducible Factor-1alpha Binding Site Missense Mutations Group (nHM). (A) A 45-year-old female with a heterozygous exon 2–3 deletion in the VHL gene, showing a large retinal hemangioblastoma with extensive exudation in the temporal periphery of the left eye. (B) A 46-year-old male with a heterozygous c.208G>A variant in the VHL gene, who is blind in the left eye due to retinal hemangioblastomas and has multiple retinal hemangioblastomas and traction membrane in the right eye. (C) A 55-year-old male with a heterozygous c.499C>T variant in the VHL gene, showing no retinal hemangioblastomas.</p> <p>(DOCX)</p>
Publication Details
- Journal
- Figshare
- Published
- 2024-10-07
- DOI
- https://doi.org/10.1371/journal.pone.0311665.s001
- Primary Topic
- Cancer, Hypoxia, and Metabolism
- Type
- article
- Field-Weighted Citation Impact
- 0.00