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A novel variant of autosomal recessive best vitelliform macular dystrophy and management of early-onset complications
To report an adult with autosomal recessive Best vitelliform macular dystrophy with a new homozygous BEST1 mutation, the management of a cystoid macular edema with intravitreal aflibercept in the proband, and the findings in the parents, carriers of heterozygous BEST1 mutations. A 28-year-old female...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8982945/ https://www.ncbi.nlm.nih.gov/pubmed/35391813 http://dx.doi.org/10.4103/1319-4534.337863 |
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author | Albuainain, Abdulrahman Alhatlan, Hatlan M. Alkhars, Wajeeha |
author_facet | Albuainain, Abdulrahman Alhatlan, Hatlan M. Alkhars, Wajeeha |
author_sort | Albuainain, Abdulrahman |
collection | PubMed |
description | To report an adult with autosomal recessive Best vitelliform macular dystrophy with a new homozygous BEST1 mutation, the management of a cystoid macular edema with intravitreal aflibercept in the proband, and the findings in the parents, carriers of heterozygous BEST1 mutations. A 28-year-old female presented with blurry andreduced vision in her both eyes with bilateral vitelliform macular lesions. The patient's parents were also examined. Examinations included electrooculogram (EOGs), imaging studies, and BEST1 gene testing. Interventions included treatment with intravitreal aflibercept for both eyes. The patient presented with visual acuity of 20/20 OD 20/30 OS, RPE changes, multifocal subretinal yellowish deposits resembling vitelliform deposits and subretinal fluids. Cystoid macular edema developed after one month, causing vision reduction (20/28 OD 20/30 OS). Visual acuity recovered to 20/20 OU after serial intravitreal aflibercept injections. The proband showed subnormal EOG Arden ratios. Molecular testing showed the homozygous missense variant c.695T>G p. (IIe232Ser) In exon 6 of the BEST1 mutations and to the best of our knowledge, this variant, which was confirmed by conventional Sanger sequencing, has neither been annotated in databases nor been described in the literature so for (Human Genome Molecular Database 2018.1). In the heterozygous parents, EOGs were subnormal, and minimal autofluorescence changes were seen. CLINICAL RELEVANCE: Prompt recognition and treatment of cystoid macular edema management effectively restore vision. Awareness and recognition of recessive inheritance permit correct diagnosis and counseling. |
format | Online Article Text |
id | pubmed-8982945 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
spelling | pubmed-89829452022-04-06 A novel variant of autosomal recessive best vitelliform macular dystrophy and management of early-onset complications Albuainain, Abdulrahman Alhatlan, Hatlan M. Alkhars, Wajeeha Saudi J Ophthalmol Case Report To report an adult with autosomal recessive Best vitelliform macular dystrophy with a new homozygous BEST1 mutation, the management of a cystoid macular edema with intravitreal aflibercept in the proband, and the findings in the parents, carriers of heterozygous BEST1 mutations. A 28-year-old female presented with blurry andreduced vision in her both eyes with bilateral vitelliform macular lesions. The patient's parents were also examined. Examinations included electrooculogram (EOGs), imaging studies, and BEST1 gene testing. Interventions included treatment with intravitreal aflibercept for both eyes. The patient presented with visual acuity of 20/20 OD 20/30 OS, RPE changes, multifocal subretinal yellowish deposits resembling vitelliform deposits and subretinal fluids. Cystoid macular edema developed after one month, causing vision reduction (20/28 OD 20/30 OS). Visual acuity recovered to 20/20 OU after serial intravitreal aflibercept injections. The proband showed subnormal EOG Arden ratios. Molecular testing showed the homozygous missense variant c.695T>G p. (IIe232Ser) In exon 6 of the BEST1 mutations and to the best of our knowledge, this variant, which was confirmed by conventional Sanger sequencing, has neither been annotated in databases nor been described in the literature so for (Human Genome Molecular Database 2018.1). In the heterozygous parents, EOGs were subnormal, and minimal autofluorescence changes were seen. CLINICAL RELEVANCE: Prompt recognition and treatment of cystoid macular edema management effectively restore vision. Awareness and recognition of recessive inheritance permit correct diagnosis and counseling. Wolters Kluwer - Medknow 2022-02-18 /pmc/articles/PMC8982945/ /pubmed/35391813 http://dx.doi.org/10.4103/1319-4534.337863 Text en Copyright: © 2022 Saudi Journal of Ophthalmology https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
spellingShingle | Case Report Albuainain, Abdulrahman Alhatlan, Hatlan M. Alkhars, Wajeeha A novel variant of autosomal recessive best vitelliform macular dystrophy and management of early-onset complications |
title | A novel variant of autosomal recessive best vitelliform macular dystrophy and management of early-onset complications |
title_full | A novel variant of autosomal recessive best vitelliform macular dystrophy and management of early-onset complications |
title_fullStr | A novel variant of autosomal recessive best vitelliform macular dystrophy and management of early-onset complications |
title_full_unstemmed | A novel variant of autosomal recessive best vitelliform macular dystrophy and management of early-onset complications |
title_short | A novel variant of autosomal recessive best vitelliform macular dystrophy and management of early-onset complications |
title_sort | novel variant of autosomal recessive best vitelliform macular dystrophy and management of early-onset complications |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8982945/ https://www.ncbi.nlm.nih.gov/pubmed/35391813 http://dx.doi.org/10.4103/1319-4534.337863 |
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