Literature DB >> 1637127

Nondetectable electroretinogram in combined methylmalonic aciduria and homocystinuria.

B H Ticho1, R M Feist, G A Fishman.   

Abstract

We present the case of a patient with congenital methylmalonic aciduria with homocystinuria and a nondetectable electroretinogram. To our knowledge, this is a new entity to be considered in the differential diagnosis of nondetectable electroretinography in infancy.

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Year:  1992        PMID: 1637127

Source DB:  PubMed          Journal:  Ann Ophthalmol        ISSN: 0003-4886


  2 in total

Review 1.  Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review.

Authors:  Karim Matmat; Rosa-Maria Guéant-Rodriguez; Abderrahim Oussalah; Arnaud Wiedemann-Fodé; Carlo Dionisi-Vici; David Coelho; Jean-Louis Guéant; Jean-Baptiste Conart
Journal:  Hum Genet       Date:  2021-10-15       Impact factor: 5.881

2.  Intravitreal homocysteine-thiolactone injection leads to the degeneration of multiple retinal cells, including photoreceptors.

Authors:  Han-Hsin Chang; David Pei-Cheng Lin; Ying-Shan Chen; Hsiang-Jui Liu; Wei Lin; Zih-Jay Tsao; Mei-Ching Teng; Bo-Yie Chen
Journal:  Mol Vis       Date:  2011-07-19       Impact factor: 2.367

  2 in total

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