FEVR-Like Presentation of Homocystinuria

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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 prophylactic treatment to the peripheral avascular retina.

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Homocystinuria was described in 1962 by Field, Carson, Cusworth, Dent, and Neil and later in the same year by Gerritsen, Vaughn, and Waisman. A further case was reported by Komrower and Wilson (1963); in this case and the ones described by Field et al., the patients presented a characteristic picture of congenital bilateral dislocation of the eye lens, iridodenesis, genu valgum, pes planum, and...

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ژورنال

عنوان ژورنال: Case Reports in Ophthalmological Medicine

سال: 2014

ISSN: 2090-6722,2090-6730

DOI: 10.1155/2014/646351