#CC-Poster-01 Clinical genetic case – profound visual loss in an infant; Zellweger spectrum disorder

Conclusions These cases illustrate the importance of performing additional ERG testing beyond the ISCEV standard and cellular imaging in the clinical work up of patients with ERG features that resemble achromatopsia or cone-rod dystrophy.

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Published
2024-10-01
DOI
https://doi.org/10.1136/bmjoo-2024-ukegg.13
Primary Topic
Retinoids in leukemia and cellular processes
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article
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article

#CC-Poster-01 Clinical genetic case – profound visual loss in an infant; Zellweger spectrum disorder

Julie Bayliss
Retinoids in leukemia and cellular processes
article

#CC-Poster-01 Clinical genetic case – profound visual loss in an infant; Zellweger spectrum disorder

Julie Bayliss
article en

Abstract

Conclusions These cases illustrate the importance of performing additional ERG testing beyond the ISCEV standard and cellular imaging in the clinical work up of patients with ERG features that resemble achromatopsia or cone-rod dystrophy.

Royal Cornwall Hospital (GB)
Gender equality
Openalex Percentile: Top 79%
Retinoids in leukemia and cellular processes
DOIOpen Access PDFOpenAlex
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#CC-Poster-01 Clinical genetic case – profound visual loss in an infant; Zellweger spectrum disorder — Julie Bayliss · (2024) | TGRS Research Map | TGRS