Cargando…

Case report: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) as a risk factor for central serous chorioretinopathy

PURPOSE: To describe an atypical case of central serous chorioretinopathy (CSC) in a patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). METHODS: A retrospective case report. RESULTS: A 43-year-old white man with a genetic diagnosis of C...

Descripción completa

Detalles Bibliográficos
Autores principales: Pazzaglia, Alberto, Valsecchi, Nicola, Belletti, Matteo, Guaraldi, Fabio, Fresina, Michela, Fontana, Luigi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9719969/
https://www.ncbi.nlm.nih.gov/pubmed/36479049
http://dx.doi.org/10.3389/fneur.2022.1034718
_version_ 1784843446316433408
author Pazzaglia, Alberto
Valsecchi, Nicola
Belletti, Matteo
Guaraldi, Fabio
Fresina, Michela
Fontana, Luigi
author_facet Pazzaglia, Alberto
Valsecchi, Nicola
Belletti, Matteo
Guaraldi, Fabio
Fresina, Michela
Fontana, Luigi
author_sort Pazzaglia, Alberto
collection PubMed
description PURPOSE: To describe an atypical case of central serous chorioretinopathy (CSC) in a patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). METHODS: A retrospective case report. RESULTS: A 43-year-old white man with a genetic diagnosis of CADASIL was referred to our hospital because of reduced visual acuity in his right eye (20/30). In the previous 2 months, he developed CSC with subretinal fluid (SRF) and damage to the retinal pigmented epithelium without pachychoroid and pachyvessels or known risk factors for CSC. The patient was treated with transfoveal subthreshold micropulse yellow laser (577 nm) therapy. One month later, there were no signs of SRF, and visual acuity improved to 20/20. CONCLUSIONS: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a genetic condition that primarily affects vascular smooth cells in small cerebral vessels and retinal arterioles. However, we hypothesize that CADASIL could also be responsible for an alteration of the vascular smooth cells in the choroidal arterioles, leading to choriocapillaris ischemia and CSC, even in the absence of a pachychoroid spectrum.
format Online
Article
Text
id pubmed-9719969
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher Frontiers Media S.A.
record_format MEDLINE/PubMed
spelling pubmed-97199692022-12-06 Case report: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) as a risk factor for central serous chorioretinopathy Pazzaglia, Alberto Valsecchi, Nicola Belletti, Matteo Guaraldi, Fabio Fresina, Michela Fontana, Luigi Front Neurol Neurology PURPOSE: To describe an atypical case of central serous chorioretinopathy (CSC) in a patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). METHODS: A retrospective case report. RESULTS: A 43-year-old white man with a genetic diagnosis of CADASIL was referred to our hospital because of reduced visual acuity in his right eye (20/30). In the previous 2 months, he developed CSC with subretinal fluid (SRF) and damage to the retinal pigmented epithelium without pachychoroid and pachyvessels or known risk factors for CSC. The patient was treated with transfoveal subthreshold micropulse yellow laser (577 nm) therapy. One month later, there were no signs of SRF, and visual acuity improved to 20/20. CONCLUSIONS: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a genetic condition that primarily affects vascular smooth cells in small cerebral vessels and retinal arterioles. However, we hypothesize that CADASIL could also be responsible for an alteration of the vascular smooth cells in the choroidal arterioles, leading to choriocapillaris ischemia and CSC, even in the absence of a pachychoroid spectrum. Frontiers Media S.A. 2022-11-21 /pmc/articles/PMC9719969/ /pubmed/36479049 http://dx.doi.org/10.3389/fneur.2022.1034718 Text en Copyright © 2022 Pazzaglia, Valsecchi, Belletti, Guaraldi, Fresina and Fontana. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neurology
Pazzaglia, Alberto
Valsecchi, Nicola
Belletti, Matteo
Guaraldi, Fabio
Fresina, Michela
Fontana, Luigi
Case report: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) as a risk factor for central serous chorioretinopathy
title Case report: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) as a risk factor for central serous chorioretinopathy
title_full Case report: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) as a risk factor for central serous chorioretinopathy
title_fullStr Case report: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) as a risk factor for central serous chorioretinopathy
title_full_unstemmed Case report: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) as a risk factor for central serous chorioretinopathy
title_short Case report: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) as a risk factor for central serous chorioretinopathy
title_sort case report: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (cadasil) as a risk factor for central serous chorioretinopathy
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9719969/
https://www.ncbi.nlm.nih.gov/pubmed/36479049
http://dx.doi.org/10.3389/fneur.2022.1034718
work_keys_str_mv AT pazzagliaalberto casereportcerebralautosomaldominantarteriopathywithsubcorticalinfarctsandleucoencephalopathycadasilasariskfactorforcentralserouschorioretinopathy
AT valsecchinicola casereportcerebralautosomaldominantarteriopathywithsubcorticalinfarctsandleucoencephalopathycadasilasariskfactorforcentralserouschorioretinopathy
AT bellettimatteo casereportcerebralautosomaldominantarteriopathywithsubcorticalinfarctsandleucoencephalopathycadasilasariskfactorforcentralserouschorioretinopathy
AT guaraldifabio casereportcerebralautosomaldominantarteriopathywithsubcorticalinfarctsandleucoencephalopathycadasilasariskfactorforcentralserouschorioretinopathy
AT fresinamichela casereportcerebralautosomaldominantarteriopathywithsubcorticalinfarctsandleucoencephalopathycadasilasariskfactorforcentralserouschorioretinopathy
AT fontanaluigi casereportcerebralautosomaldominantarteriopathywithsubcorticalinfarctsandleucoencephalopathycadasilasariskfactorforcentralserouschorioretinopathy