Presumed Bietti crystalline dystrophy with optic nerve head drusen: a case report

BACKGROUND: Bietti crystalline dystrophy is primarily a retinal dystrophy caused by a CYP4V2 mutation and typically presents with crystalline retinal deposits in the posterior fundus. CASE PRESENTATION: We present the case of an otherwise healthy 39-year-old Iranian woman with no family history of o...

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Autores principales: Bazvand, Fatemeh, Asadi Khameneh, Esmaeil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9628052/
https://www.ncbi.nlm.nih.gov/pubmed/36320086
http://dx.doi.org/10.1186/s13256-022-03581-7
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author Bazvand, Fatemeh
Asadi Khameneh, Esmaeil
author_facet Bazvand, Fatemeh
Asadi Khameneh, Esmaeil
author_sort Bazvand, Fatemeh
collection PubMed
description BACKGROUND: Bietti crystalline dystrophy is primarily a retinal dystrophy caused by a CYP4V2 mutation and typically presents with crystalline retinal deposits in the posterior fundus. CASE PRESENTATION: We present the case of an otherwise healthy 39-year-old Iranian woman with no family history of ocular disease who suffered with progressive vision loss that had started 2 years prior to presentation. Ocular examination revealed blurry optic nerve head margin and diffuse retinal crystalline deposit in both eyes. Spectral domain optical coherence tomography images showed retinal crystals, located mostly in outer retinal layers, with some areas of outer retinal tubulation and attenuation of outer retinal layers. Crystalline deposits were better visualized on near-infrared images as hyperreflective spots. Fundus autofluorescence images showed hyperautofluorescence areas on optic nerve head consistent with optic nerve head drusen and large hypoautofluorescence areas in posterior retina consistent with retinal pigment epithelium atrophy. Cystinosis was ruled out by blood testing. CONCLUSION: Bietti crystalline dystrophy may be associated with optic nerve head drusen.
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spelling pubmed-96280522022-11-03 Presumed Bietti crystalline dystrophy with optic nerve head drusen: a case report Bazvand, Fatemeh Asadi Khameneh, Esmaeil J Med Case Rep Case Report BACKGROUND: Bietti crystalline dystrophy is primarily a retinal dystrophy caused by a CYP4V2 mutation and typically presents with crystalline retinal deposits in the posterior fundus. CASE PRESENTATION: We present the case of an otherwise healthy 39-year-old Iranian woman with no family history of ocular disease who suffered with progressive vision loss that had started 2 years prior to presentation. Ocular examination revealed blurry optic nerve head margin and diffuse retinal crystalline deposit in both eyes. Spectral domain optical coherence tomography images showed retinal crystals, located mostly in outer retinal layers, with some areas of outer retinal tubulation and attenuation of outer retinal layers. Crystalline deposits were better visualized on near-infrared images as hyperreflective spots. Fundus autofluorescence images showed hyperautofluorescence areas on optic nerve head consistent with optic nerve head drusen and large hypoautofluorescence areas in posterior retina consistent with retinal pigment epithelium atrophy. Cystinosis was ruled out by blood testing. CONCLUSION: Bietti crystalline dystrophy may be associated with optic nerve head drusen. BioMed Central 2022-11-02 /pmc/articles/PMC9628052/ /pubmed/36320086 http://dx.doi.org/10.1186/s13256-022-03581-7 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Bazvand, Fatemeh
Asadi Khameneh, Esmaeil
Presumed Bietti crystalline dystrophy with optic nerve head drusen: a case report
title Presumed Bietti crystalline dystrophy with optic nerve head drusen: a case report
title_full Presumed Bietti crystalline dystrophy with optic nerve head drusen: a case report
title_fullStr Presumed Bietti crystalline dystrophy with optic nerve head drusen: a case report
title_full_unstemmed Presumed Bietti crystalline dystrophy with optic nerve head drusen: a case report
title_short Presumed Bietti crystalline dystrophy with optic nerve head drusen: a case report
title_sort presumed bietti crystalline dystrophy with optic nerve head drusen: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9628052/
https://www.ncbi.nlm.nih.gov/pubmed/36320086
http://dx.doi.org/10.1186/s13256-022-03581-7
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