Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes

Alejandro Garanto; Carlos R. Ferreira; Camiel J. F. Boon; Clara D. M. van Karnebeek; Nenad Blau

doi:10.1016/j.ymgme.2022.02.002

Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes

Alejandro Garanto^*, Carlos R. Ferreira, Camiel J. F. Boon, Clara D. M. van Karnebeek, Nenad Blau

^*Corresponding author for this work

Ophthalmology

Research output: Contribution to journal › Review article › Academic › peer-review

Abstract

Ocular manifestations are observed in approximately one third of all inherited metabolic disorders (IMDs). Although ocular involvement is not life-threatening, it can result in severe vision loss, thereby leading to an additional burden for the patient. Retinal degeneration with or without optic atrophy is the most frequent phenotype, followed by oculomotor problems, involvement of the cornea and lens, and refractive errors. These phenotypes can provide valuable clues that contribute to its diagnosis. In this issue we found 577 relevant IMDs leading to ophthalmologic manifestations. This article is the seventh of a series attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnoses according to system involvement.

Original language	English
Pages (from-to)	311-319
Number of pages	9
Journal	Molecular Genetics and Metabolism
Volume	135
Issue number	4
DOIs	https://doi.org/10.1016/j.ymgme.2022.02.002
Publication status	Published - 1 Apr 2022

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title = "Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes",

abstract = "Ocular manifestations are observed in approximately one third of all inherited metabolic disorders (IMDs). Although ocular involvement is not life-threatening, it can result in severe vision loss, thereby leading to an additional burden for the patient. Retinal degeneration with or without optic atrophy is the most frequent phenotype, followed by oculomotor problems, involvement of the cornea and lens, and refractive errors. These phenotypes can provide valuable clues that contribute to its diagnosis. In this issue we found 577 relevant IMDs leading to ophthalmologic manifestations. This article is the seventh of a series attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnoses according to system involvement.",

keywords = "Eye, IEMbase, Inborn errors of metabolism, Inherited metabolic disorders, Ocular phenotypes, Ophthalmologic, Optic atrophy, Retina",

author = "Alejandro Garanto and Ferreira, {Carlos R.} and Boon, {Camiel J. F.} and {van Karnebeek}, {Clara D. M.} and Nenad Blau",

note = "Funding Information: The authors would like to thank Prof. Dr. Saskia Wortmann for her input. This work was supported, in part, by the Intramural Research Program of the National Human Genome Research Institute . Publisher Copyright: {\textcopyright} 2022 The Authors",

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doi = "10.1016/j.ymgme.2022.02.002",

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AU - Garanto, Alejandro

AU - Ferreira, Carlos R.

AU - Boon, Camiel J. F.

AU - van Karnebeek, Clara D. M.

AU - Blau, Nenad

N1 - Funding Information: The authors would like to thank Prof. Dr. Saskia Wortmann for her input. This work was supported, in part, by the Intramural Research Program of the National Human Genome Research Institute . Publisher Copyright: © 2022 The Authors

PY - 2022/4/1

Y1 - 2022/4/1

N2 - Ocular manifestations are observed in approximately one third of all inherited metabolic disorders (IMDs). Although ocular involvement is not life-threatening, it can result in severe vision loss, thereby leading to an additional burden for the patient. Retinal degeneration with or without optic atrophy is the most frequent phenotype, followed by oculomotor problems, involvement of the cornea and lens, and refractive errors. These phenotypes can provide valuable clues that contribute to its diagnosis. In this issue we found 577 relevant IMDs leading to ophthalmologic manifestations. This article is the seventh of a series attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnoses according to system involvement.

AB - Ocular manifestations are observed in approximately one third of all inherited metabolic disorders (IMDs). Although ocular involvement is not life-threatening, it can result in severe vision loss, thereby leading to an additional burden for the patient. Retinal degeneration with or without optic atrophy is the most frequent phenotype, followed by oculomotor problems, involvement of the cornea and lens, and refractive errors. These phenotypes can provide valuable clues that contribute to its diagnosis. In this issue we found 577 relevant IMDs leading to ophthalmologic manifestations. This article is the seventh of a series attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnoses according to system involvement.

KW - Eye

KW - IEMbase

KW - Inborn errors of metabolism

KW - Inherited metabolic disorders

KW - Ocular phenotypes

KW - Ophthalmologic

KW - Optic atrophy

KW - Retina

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M3 - Review article

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VL - 135

SP - 311

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JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

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ER -

Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes

Abstract

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