Cargando…

Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7

PURPOSE: To evaluate the retinal phenotype and genetic features of Chinese patients with spinocerebellar ataxia type 7 (SCA7). METHODS: Detailed ophthalmic examinations, including electroretinograms, fundus photography, fundus autofluorescence and optical coherence tomography, were performed to anal...

Descripción completa

Detalles Bibliográficos
Autores principales: Zou, Xuan, Yao, Fengxia, Li, Fengrong, Wu, Shijing, Li, Hui, Sun, Zixi, Zhu, Tian, Wei, Xing, Li, Donghui, Sui, Ruifang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8116265/
https://www.ncbi.nlm.nih.gov/pubmed/34012225
_version_ 1783691361766080512
author Zou, Xuan
Yao, Fengxia
Li, Fengrong
Wu, Shijing
Li, Hui
Sun, Zixi
Zhu, Tian
Wei, Xing
Li, Donghui
Sui, Ruifang
author_facet Zou, Xuan
Yao, Fengxia
Li, Fengrong
Wu, Shijing
Li, Hui
Sun, Zixi
Zhu, Tian
Wei, Xing
Li, Donghui
Sui, Ruifang
author_sort Zou, Xuan
collection PubMed
description PURPOSE: To evaluate the retinal phenotype and genetic features of Chinese patients with spinocerebellar ataxia type 7 (SCA7). METHODS: Detailed ophthalmic examinations, including electroretinograms, fundus photography, fundus autofluorescence and optical coherence tomography, were performed to analyse the retinal lesions of patients with SCA7. A molecular genetic analysis was completed to confirm the number of CAG repeats in ATXN7 gene on the patients and their family members. RESULTS: Eight patients from three families with SCA7 were included in this study. Trinucleotide repeat was expanded from 43 to 113 in the affected patients. The affected patients were characterized by different degrees of cone-rod dystrophy, which is positively related to the number of CAG repeats and age. All patients complained of progressive bilateral visual loss, and most cases reported visual disturbance earlier than gait movement or dysarthria. A coarse granular appearance of the macular region on scanning laser ophthalmoscopy, hypofluorescence in the macula on autofluorescence, retinal atrophy on optic coherence tomography, depression of multifocal electroretinograms and prominent abnormalities in cone-mediated responses on electrograms are the general features of SCA7-related retinopathy. Hyperreflective dots in the outer retinal layers and choroidal vessel layers are a common sign in optic coherence tomography in the advanced stage. CONCLUSIONS: SCA7 shows a cone-rod dystrophy phenotype. The multimodal imaging of the retina is beneficial to detect the early lesions of cone-rod dystrophy related to SCA7.
format Online
Article
Text
id pubmed-8116265
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher Molecular Vision
record_format MEDLINE/PubMed
spelling pubmed-81162652021-05-18 Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7 Zou, Xuan Yao, Fengxia Li, Fengrong Wu, Shijing Li, Hui Sun, Zixi Zhu, Tian Wei, Xing Li, Donghui Sui, Ruifang Mol Vis Research Article PURPOSE: To evaluate the retinal phenotype and genetic features of Chinese patients with spinocerebellar ataxia type 7 (SCA7). METHODS: Detailed ophthalmic examinations, including electroretinograms, fundus photography, fundus autofluorescence and optical coherence tomography, were performed to analyse the retinal lesions of patients with SCA7. A molecular genetic analysis was completed to confirm the number of CAG repeats in ATXN7 gene on the patients and their family members. RESULTS: Eight patients from three families with SCA7 were included in this study. Trinucleotide repeat was expanded from 43 to 113 in the affected patients. The affected patients were characterized by different degrees of cone-rod dystrophy, which is positively related to the number of CAG repeats and age. All patients complained of progressive bilateral visual loss, and most cases reported visual disturbance earlier than gait movement or dysarthria. A coarse granular appearance of the macular region on scanning laser ophthalmoscopy, hypofluorescence in the macula on autofluorescence, retinal atrophy on optic coherence tomography, depression of multifocal electroretinograms and prominent abnormalities in cone-mediated responses on electrograms are the general features of SCA7-related retinopathy. Hyperreflective dots in the outer retinal layers and choroidal vessel layers are a common sign in optic coherence tomography in the advanced stage. CONCLUSIONS: SCA7 shows a cone-rod dystrophy phenotype. The multimodal imaging of the retina is beneficial to detect the early lesions of cone-rod dystrophy related to SCA7. Molecular Vision 2021-05-07 /pmc/articles/PMC8116265/ /pubmed/34012225 Text en Copyright © 2021 Molecular Vision. https://creativecommons.org/licenses/by-nc-nd/3.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited, used for non-commercial purposes, and is not altered or transformed.
spellingShingle Research Article
Zou, Xuan
Yao, Fengxia
Li, Fengrong
Wu, Shijing
Li, Hui
Sun, Zixi
Zhu, Tian
Wei, Xing
Li, Donghui
Sui, Ruifang
Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7
title Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7
title_full Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7
title_fullStr Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7
title_full_unstemmed Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7
title_short Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7
title_sort clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with sca7
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8116265/
https://www.ncbi.nlm.nih.gov/pubmed/34012225
work_keys_str_mv AT zouxuan clinicalcharacterizationandtheimprovedmoleculardiagnosisofautosomaldominantconeroddystrophyinpatientswithsca7
AT yaofengxia clinicalcharacterizationandtheimprovedmoleculardiagnosisofautosomaldominantconeroddystrophyinpatientswithsca7
AT lifengrong clinicalcharacterizationandtheimprovedmoleculardiagnosisofautosomaldominantconeroddystrophyinpatientswithsca7
AT wushijing clinicalcharacterizationandtheimprovedmoleculardiagnosisofautosomaldominantconeroddystrophyinpatientswithsca7
AT lihui clinicalcharacterizationandtheimprovedmoleculardiagnosisofautosomaldominantconeroddystrophyinpatientswithsca7
AT sunzixi clinicalcharacterizationandtheimprovedmoleculardiagnosisofautosomaldominantconeroddystrophyinpatientswithsca7
AT zhutian clinicalcharacterizationandtheimprovedmoleculardiagnosisofautosomaldominantconeroddystrophyinpatientswithsca7
AT weixing clinicalcharacterizationandtheimprovedmoleculardiagnosisofautosomaldominantconeroddystrophyinpatientswithsca7
AT lidonghui clinicalcharacterizationandtheimprovedmoleculardiagnosisofautosomaldominantconeroddystrophyinpatientswithsca7
AT suiruifang clinicalcharacterizationandtheimprovedmoleculardiagnosisofautosomaldominantconeroddystrophyinpatientswithsca7