FEVR-Like Presentation of Homocystinuria

FEVR-Like Presentation of Homocystinuria

A male infant with a diagnosis of homocystinuria presented with avascularity of the peripheral retina with a ridge on ophthalmic exam, consistent with a FEVR-like manifestation homocystinuria. Upon follow-up and treatment for homocystinuria, the retinal vascularity improved without the need for prop...

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Veröffentlicht in:Case reports in ophthalmological medicine 2014-01, Vol.2014 (2014), p.1-2
Hauptverfasser: Hess, Ditte, Aziz, Hassan A., Venincasa, Vincent D., Montalvo, Lorena A., Berrocal, Audina M.
Format: Artikel
Sprache:eng
Schlagworte:
Case Report
Disease
Enzymes
Homocysteine
Macular degeneration
Medical imaging
Oxidative stress
Retina
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Zusammenfassung:A male infant with a diagnosis of homocystinuria presented with avascularity of the peripheral retina with a ridge on ophthalmic exam, consistent with a FEVR-like manifestation homocystinuria. Upon follow-up and treatment for homocystinuria, the retinal vascularity improved without the need for prophylactic treatment to the peripheral avascular retina.
ISSN:2090-6722
2090-6730
DOI:10.1155/2014/646351