A novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype

Fukutaro Mano, Stephen A. LoBue, Timothy Olsen, Alan D Marmorstein, Jose S Pulido

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1 Citation (Scopus)

Abstract

Background: To report a 68-year-old female with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype associated with a subretinal hemorrhage (SRH) and novel BEST1 pathogenic variation p.Met571Thr. Materials and Methods: The patient was assessed by fundus photography, fluorescence and indocyanine green angiography, spectral-domain optical coherence tomography, photopic and scotopic electroretinogram (ERG), and electrooculogram (EOG). Whole-exome and Sanger sequencing of the patient’s and selected family members’ DNA was performed. Ophthalmoscopic examinations were also performed on six patient’s relatives. Results: The patient presented moderate vitreous and SRH in the left eye. A distinct, annular hyperpigmented band was present in both eyes. Vitrectomy improved visual acuity, and the SRH gradually regressed without recurrence. Preserved macular function was shown by optical coherence tomography (OCT). Genetic analysis identified a novel heterozygous mutation, resulting in p.Met571Thr in BEST1. No mutations were observed in a panel of other eye disease genes, suggesting that this pathogenic variation in BEST1 is associated with an ADVIRC phenotype. No other evaluated family member had the variant or the fundus findings. Conclusions: We present a patient with a novel p.Met571Thr pathogenic variation associated with an ADVIRC phenotype. SRH is a unique finding in ADVIRC patients and may correspond to peripheral exudative hemorrhagic chorioretinopathy. The BEST1 pathogenic variation p.Met571Thr might be the likely cause of ADVIRC in this patient. However, further study is necessary to determine whether this mutation is causative.

Original languageEnglish (US)
JournalOphthalmic Genetics
DOIs
StateAccepted/In press - Jan 1 2018

Fingerprint

Missense Mutation
Phenotype
Optical Coherence Tomography
Hemorrhage
Mutation
Electrooculography
Exome
Vitreous Hemorrhage
Indocyanine Green
Eye Diseases
Fluorescein Angiography
Vitrectomy
Vitreoretinochoroidopathy
Visual Acuity
Angiography
Recurrence
DNA
Genes

Keywords

  • Autosomal-dominant vitreoretinochoroidopathy (ADVIRC)
  • BEST1
  • subretinal hemorrhage

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)

Cite this

@article{4f363e2a11f2431c8b83bc08c60fb93f,
title = "A novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype",
abstract = "Background: To report a 68-year-old female with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype associated with a subretinal hemorrhage (SRH) and novel BEST1 pathogenic variation p.Met571Thr. Materials and Methods: The patient was assessed by fundus photography, fluorescence and indocyanine green angiography, spectral-domain optical coherence tomography, photopic and scotopic electroretinogram (ERG), and electrooculogram (EOG). Whole-exome and Sanger sequencing of the patient’s and selected family members’ DNA was performed. Ophthalmoscopic examinations were also performed on six patient’s relatives. Results: The patient presented moderate vitreous and SRH in the left eye. A distinct, annular hyperpigmented band was present in both eyes. Vitrectomy improved visual acuity, and the SRH gradually regressed without recurrence. Preserved macular function was shown by optical coherence tomography (OCT). Genetic analysis identified a novel heterozygous mutation, resulting in p.Met571Thr in BEST1. No mutations were observed in a panel of other eye disease genes, suggesting that this pathogenic variation in BEST1 is associated with an ADVIRC phenotype. No other evaluated family member had the variant or the fundus findings. Conclusions: We present a patient with a novel p.Met571Thr pathogenic variation associated with an ADVIRC phenotype. SRH is a unique finding in ADVIRC patients and may correspond to peripheral exudative hemorrhagic chorioretinopathy. The BEST1 pathogenic variation p.Met571Thr might be the likely cause of ADVIRC in this patient. However, further study is necessary to determine whether this mutation is causative.",
keywords = "Autosomal-dominant vitreoretinochoroidopathy (ADVIRC), BEST1, subretinal hemorrhage",
author = "Fukutaro Mano and LoBue, {Stephen A.} and Timothy Olsen and Marmorstein, {Alan D} and Pulido, {Jose S}",
year = "2018",
month = "1",
day = "1",
doi = "10.1080/13816810.2018.1520264",
language = "English (US)",
journal = "Ophthalmic Genetics",
issn = "1381-6810",
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}

TY - JOUR

T1 - A novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype

AU - Mano, Fukutaro

AU - LoBue, Stephen A.

AU - Olsen, Timothy

AU - Marmorstein, Alan D

AU - Pulido, Jose S

PY - 2018/1/1

Y1 - 2018/1/1

N2 - Background: To report a 68-year-old female with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype associated with a subretinal hemorrhage (SRH) and novel BEST1 pathogenic variation p.Met571Thr. Materials and Methods: The patient was assessed by fundus photography, fluorescence and indocyanine green angiography, spectral-domain optical coherence tomography, photopic and scotopic electroretinogram (ERG), and electrooculogram (EOG). Whole-exome and Sanger sequencing of the patient’s and selected family members’ DNA was performed. Ophthalmoscopic examinations were also performed on six patient’s relatives. Results: The patient presented moderate vitreous and SRH in the left eye. A distinct, annular hyperpigmented band was present in both eyes. Vitrectomy improved visual acuity, and the SRH gradually regressed without recurrence. Preserved macular function was shown by optical coherence tomography (OCT). Genetic analysis identified a novel heterozygous mutation, resulting in p.Met571Thr in BEST1. No mutations were observed in a panel of other eye disease genes, suggesting that this pathogenic variation in BEST1 is associated with an ADVIRC phenotype. No other evaluated family member had the variant or the fundus findings. Conclusions: We present a patient with a novel p.Met571Thr pathogenic variation associated with an ADVIRC phenotype. SRH is a unique finding in ADVIRC patients and may correspond to peripheral exudative hemorrhagic chorioretinopathy. The BEST1 pathogenic variation p.Met571Thr might be the likely cause of ADVIRC in this patient. However, further study is necessary to determine whether this mutation is causative.

AB - Background: To report a 68-year-old female with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype associated with a subretinal hemorrhage (SRH) and novel BEST1 pathogenic variation p.Met571Thr. Materials and Methods: The patient was assessed by fundus photography, fluorescence and indocyanine green angiography, spectral-domain optical coherence tomography, photopic and scotopic electroretinogram (ERG), and electrooculogram (EOG). Whole-exome and Sanger sequencing of the patient’s and selected family members’ DNA was performed. Ophthalmoscopic examinations were also performed on six patient’s relatives. Results: The patient presented moderate vitreous and SRH in the left eye. A distinct, annular hyperpigmented band was present in both eyes. Vitrectomy improved visual acuity, and the SRH gradually regressed without recurrence. Preserved macular function was shown by optical coherence tomography (OCT). Genetic analysis identified a novel heterozygous mutation, resulting in p.Met571Thr in BEST1. No mutations were observed in a panel of other eye disease genes, suggesting that this pathogenic variation in BEST1 is associated with an ADVIRC phenotype. No other evaluated family member had the variant or the fundus findings. Conclusions: We present a patient with a novel p.Met571Thr pathogenic variation associated with an ADVIRC phenotype. SRH is a unique finding in ADVIRC patients and may correspond to peripheral exudative hemorrhagic chorioretinopathy. The BEST1 pathogenic variation p.Met571Thr might be the likely cause of ADVIRC in this patient. However, further study is necessary to determine whether this mutation is causative.

KW - Autosomal-dominant vitreoretinochoroidopathy (ADVIRC)

KW - BEST1

KW - subretinal hemorrhage

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U2 - 10.1080/13816810.2018.1520264

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JF - Ophthalmic Genetics

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