Novel retinal findings in peroxisomal biogenesis disorders

B. E. O’Bryhim; B. A. Kozel; G. T. Lueder

doi:10.1080/13816810.2018.1430241

Novel retinal findings in peroxisomal biogenesis disorders

B. E. O’Bryhim, B. A. Kozel, G. T. Lueder

Department of Ophthalmology and Visual Sciences

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Abstract

Peroxisomal biogenesis disorders are caused by disruption of long chain fatty acid metabolism due to mutations in PEX genes. Individuals with these disorders often have vision loss due to optic atrophy and pigmentary retinopathy. We report an unusual retinal manifestation of peroxisomal biogenesis disorder.

Original language	English
Pages (from-to)	377-379
Number of pages	3
Journal	Ophthalmic Genetics
Volume	39
Issue number	3
DOIs	https://doi.org/10.1080/13816810.2018.1430241
State	Published - May 4 2018

Keywords

Chorioretinal fold
epiretinal membrane
peroxisomal biogenesis disorder

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10.1080/13816810.2018.1430241

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title = "Novel retinal findings in peroxisomal biogenesis disorders",

abstract = "Peroxisomal biogenesis disorders are caused by disruption of long chain fatty acid metabolism due to mutations in PEX genes. Individuals with these disorders often have vision loss due to optic atrophy and pigmentary retinopathy. We report an unusual retinal manifestation of peroxisomal biogenesis disorder.",

keywords = "Chorioretinal fold, epiretinal membrane, peroxisomal biogenesis disorder",

author = "O{\textquoteright}Bryhim, {B. E.} and Kozel, {B. A.} and Lueder, {G. T.}",

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Novel retinal findings in peroxisomal biogenesis disorders

Abstract

Keywords

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