Article ; Online: Novel
2022 Volume 44, Issue 2, Page(s) 186–190
Abstract: Background: MFSD8: Materials and methods: We present a case of : Results: A 57-year-old female presented for subacute, unilateral blurriness in her right eye. Best corrected visual acuity was 20/250 and 20/50 in the right and left eyes, ... ...
Abstract | Background: MFSD8 Materials and methods: We present a case of Results: A 57-year-old female presented for subacute, unilateral blurriness in her right eye. Best corrected visual acuity was 20/250 and 20/50 in the right and left eyes, respectively. Fundus examination and multimodal imaging revealed blunted foveal reflexes and optical gap with subfoveal ellipsoid zone loss in both eyes, right greater than left. Full field electroretinography results were within normal limits while the Arden ratio on electro-oculography was abnormal in both eyes, right more so than left. Genetic testing revealed apparently causative compound heterozygous mutations in the Conclusions: To authors' knowledge, this report is first description of this combination of mutations in the |
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MeSH term(s) | Female ; Humans ; Adult ; Middle Aged ; Macular Degeneration/diagnosis ; Macular Degeneration/genetics ; Retinal Dystrophies/diagnosis ; Retinal Dystrophies/genetics ; Mutation ; Electroretinography ; Visual Acuity ; Tomography, Optical Coherence ; Membrane Transport Proteins/genetics |
Chemical Substances | MFSD8 protein, human ; Membrane Transport Proteins |
Language | English |
Publishing date | 2022-07-08 |
Publishing country | England |
Document type | Case Reports ; Review ; Journal Article |
ZDB-ID | 1199279-7 |
ISSN | 1744-5094 ; 0167-6784 ; 1381-6810 |
ISSN (online) | 1744-5094 |
ISSN | 0167-6784 ; 1381-6810 |
DOI | 10.1080/13816810.2022.2092758 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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