Evidence map›Paper›PMID 40212196›Full record

ArticleAnnals of medicine and surgery (2012)2025

A 30-year-old man with Bietti crystalline dystrophy:a rare case report from Syria.

Abdulrahman Ahmad Othman, Lama Ahmad Othman, Rema Ahmad Shaban, Zeina Zakarya Marzouk, Taha Almohammad, Diaa Abulhameed Sadeq, Salem Ahmad Al Hasan, Ahmed Aboud Al-Aboud, Mohammed Nour Kfri, Mohamad Yazan Mohamad Alshehni Albostani and 1 more

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Article in Annals of medicine and surgery (2012), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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0 citing papers in PubMed.

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4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

11 authors.

Abdulrahman Ahmad OthmanMedizinische Fakultät der Universität des Saarlandes, Saarland, Germany.
Lama Ahmad OthmanMedizinische Fakultät der Universität des Saarlandes, Saarland, Germany.
Rema Ahmad ShabanMedizinische Fakultät der Universität des Saarlandes, Saarland, Germany.
Zeina Zakarya MarzoukEberhard Karls Universität Tübingen - Naturwissenschaftliche Fakultät (Pharmazeutisches Institut),Tübingen, Germany.
Taha AlmohammadFaculty of Medicine, Syrian Private University, Damascus, Syria.
Diaa Abulhameed SadeqEberhard Karls Universität Tübingen - Naturwissenschaftliche Fakultät (Pharmazeutisches Institut),Tübingen, Germany.
Salem Ahmad Al HasanMedizinische Fakultät der Universität des Saarlandes, Saarland, Germany.
Ahmed Aboud Al-AboudFaculty of Medicine, Al-Furat University, Deir ez-Zor, Syria.
Mohammed Nour KfriFaculty of Medicine, University of Hama, Hama, Syria.
Mohamad Yazan Mohamad Alshehni AlbostaniFaculty of Medicine, University of Hama, Hama, Syria.
Bilal SleiayFaculty of Medicine, University of Hama, Hama, Syria.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Bietti crystalline dystrophy (BCD) is a rare, inherited eye disease that causes progressive damage to the back of the eye (chorioretinal atrophy), characterized by sparkling crystals in the cornea and retina. Case presention: A 30-year-old man presented with gradual vision loss in both eyes. Fundus photography revealed retinal crystals and retinal pigment epithelium atrophy, consistent with BCD. Enhanced depth imaging optical coherence tomography confirmed retinal and choroidal abnormalities, supporting the diagnosis. Genetic testing was not performed due to financial constraints. Clinical discussion: Subretinal rAAV2/8-hCYP4V2 gene therapy for BCD is safe and effective, but COVID-19 or AAV8 antibodies may hinder its efficacy. VFQ-25 correlates with visual acuity improvement. Hypertriglyceridemia and hypercholesterolemia were observed as potential side effects. Conclusion: Health care professionals should be vigilant in recognizing rare eye diseases like BCD, even in uncommon regions. Further research is crucial to understand BCD, develop treatments, and improve the quality of life for affected individuals.

Indexed as

Bietti crystalline dystrophyfundus autofluorescenceoptical coherence tomographyretinal pigment epithelium

Identifiers

PMID40212196
PMCPMC11981370

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