Abstract | BACKGROUND: METHODS: We performed 8 years of continuous ophthalmic follow-up of one patient diagnosed with central retinal vein occlusion. Peripheral blood was collected for metabolic evaluation and hypercoagulability assessment. Targeted gene sequencing was used for genetic diagnosis. Examination of the retinal vasculature was performed through dilated funduscopic examination, digital color fundus and ultrawide-field color fundus photography, spectral domain optical coherence tomography, and fluorescein angiography. RESULTS: CONCLUSION:
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Authors | Ahra Cho, Sara D Ragi, Jin Kyun Oh, Jose Ronaldo Lima de Carvalho Jr, Joseph Ryu, Ber-Yuh Yang, Stephen H Tsang |
Journal | Molecular genetics & genomic medicine
(Mol Genet Genomic Med)
Vol. 8
Issue 7
Pg. e1273
(07 2020)
ISSN: 2324-9269 [Electronic] United States |
PMID | 32347013
(Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, Non-P.H.S.)
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Copyright | © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. |
Chemical References |
- Cholesterol, LDL
- Protein S
- Vitamin D
- MTHFR protein, human
- Methylenetetrahydrofolate Reductase (NADPH2)
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Topics |
- Blood Coagulation
- Cholesterol, LDL
(blood)
- Female
- Humans
- Ischemia
(genetics, pathology)
- Methylenetetrahydrofolate Reductase (NADPH2)
(genetics)
- Middle Aged
- Mutation, Missense
- Protein S
(metabolism)
- Retinal Vein Occlusion
(genetics, pathology)
- Vitamin D
(blood)
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