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Case Report
Case report on Best vitelliform macular dystrophy: A cause of fixation disparity
1 MBBS, MS, Ophthalmology, Professor and Head, Department of Ophthalmology, G.S.V.M. Medical College, Kanpur, Uttar Pradesh, India
2 DOMS, DNB Ophthalmology, Assistant Professor, Department of Ophthalmology, G.S.V.M. Medical College, Kanpur, Uttar Pradesh, India
3 MBBS, Junior Resident, Department of Ophthalmology, G.S.V.M. Medical College, Kanpur, Uttar Pradesh, India
Address correspondence to:
Shweta Singh
14, PG Girls Hostel, G.S.V.M. Medical College, Kanpur, Uttar Pradesh,
India
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Article ID: 101198Z01PK2021
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Khan P, Singh P, Singh S, Srivastava A. Case report on Best vitelliform macular dystrophy: A cause of fixation disparity. Int J Case Rep Images 2021;12:101198Z01PK2021.ABSTRACT
Introduction: To evaluate a case of bilateral diminution of vision with metamorphopsia and hyperdeviation. This is a retrospective and descriptive study and data was gathered from a series of questionnaire and investigative analysis.
Case Report: A 27-year-old female presented with complains of diminution of vision in both eyes which was associated with metamorphopsia. Visual acuity on Snellen chart was 20/60 and 20/200 in right and left eye, respectively. The patient was evaluated with detailed history taking and ocular examination assisted by a battery of investigations. Anterior segment was unremarkable but the patient was detected to have fixation disparity in left eye. Characteristic fundal findings of egg yolk-like lesion were presents in both the eyes. Macular optical coherence tomography (OCT) scan revealed homogenous deposits beneath the photoreceptor layer. Multifocal electroretinogram was normal but electro-oculogram showed decreased Arden index which confirmed our diagnosis of Best disease. No relevant family history was present. The patient was counseled about the progression of disease and advised six monthly follow-up.
Conclusion: Best disease is a vitelliform macular dystrophy that occurs due to mutation in a gene encoding for bestrophin protein which leads to lipofuscin accumulation in the central macula, causing progressive central vision loss due to retinal pigment epithelial (RPE) degeneration. Patients might present with fixation disparity. No cure available as such and management strategies target only choroidal neovascularization (CNV) resulting due to advanced disease.
Keywords: Best disease, Fixation disparity, Heterotropia, Metamorphopsia
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Author Contributions
Perwez Khan - Conception of the work, Design of the work, Acquisition of data, Analysis of data, Drafting the work, Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Parul Singh - Conception of the work, Design of the work, Acquisition of data, Drafting the work, Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Shweta Singh - Conception of the work, Design of the work, Acquisition of data, Drafting the work, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Ankita Srivastava - Conception of the work, Design of the work, Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Guarantor of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone
Consent StatementWritten informed consent was obtained from the patient for publication of this article.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Conflict of InterestAuthors declare no conflict of interest.
Copyright© 2021 Perwez Khan et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.
