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Retinal findings in carriers of monoallelic ABCC6 mutations

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Retinal findings in carriers of monoallelic ABCC6 mutations. / Gliem, Martin; Wieg, Isabel; Birtel, Johannes; Müller, Philipp L; Faust, Isabel; Hendig, Doris; Holz, Frank G; Finger, Robert P; Charbel Issa, Peter.

in: BRIT J OPHTHALMOL, Jahrgang 104, Nr. 8, 08.2020, S. 1089-1092.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Gliem, M, Wieg, I, Birtel, J, Müller, PL, Faust, I, Hendig, D, Holz, FG, Finger, RP & Charbel Issa, P 2020, 'Retinal findings in carriers of monoallelic ABCC6 mutations', BRIT J OPHTHALMOL, Jg. 104, Nr. 8, S. 1089-1092. https://doi.org/10.1136/bjophthalmol-2018-313448

APA

Gliem, M., Wieg, I., Birtel, J., Müller, P. L., Faust, I., Hendig, D., Holz, F. G., Finger, R. P., & Charbel Issa, P. (2020). Retinal findings in carriers of monoallelic ABCC6 mutations. BRIT J OPHTHALMOL, 104(8), 1089-1092. https://doi.org/10.1136/bjophthalmol-2018-313448

Vancouver

Gliem M, Wieg I, Birtel J, Müller PL, Faust I, Hendig D et al. Retinal findings in carriers of monoallelic ABCC6 mutations. BRIT J OPHTHALMOL. 2020 Aug;104(8):1089-1092. https://doi.org/10.1136/bjophthalmol-2018-313448

Bibtex

@article{fb0e1b6580594a8e85558324a6b4236e,
title = "Retinal findings in carriers of monoallelic ABCC6 mutations",
abstract = "AIM: Biallelic ABCC6 mutations cause pseudoxanthoma elasticum, a systemic disease characterised by calcification of elastic tissue and a specific retinal phenotype. In this study, we investigated if monoallelic ABCC6 mutations are also associated with retinal alterations.METHODS: In this prospective, cross-sectional, monocentre case-control study, carriers of monoallelic ABCC6 mutations were investigated and compared with age-matched controls. The retinal phenotype was characterised using fundus photography, fundus autofluorescence, confocal near-infrared reflectance imaging, spectral domain optical coherence tomography and in selected cases late-phase indocyanine green angiography.RESULTS: Thirty-eight subjects carrying monoallelic ABCC6 mutations (mean age 70.2 years, range 50-90, 26 female) were examined and compared with 77 age-matched controls (mean age 69.9 years, range 50-93, 43 female). Retinal alterations were more frequently found in carriers of monoallelic ABCC6 mutations compared with controls (50% vs 33.8%, p=0.107) with increasing prevalence at older age. Typical findings were peripapillary atrophy (37% vs 23%, p=0.184), pattern dystrophy-like changes (24% vs 12%, p=0.109), reticular pseudodrusen (21% vs 5%, p=0.019), small angioid streaks (8% vs 1%, p=0.105), choroidal neovascularisations and atrophic lesions (both 8% vs 0%, p=0.034). Late-phase indocyanine green angiography showed a reduced cyanescence centred to the posterior pole in 11 of 14 examined subjects with monoallelic ABCC6 mutations.CONCLUSION: The findings of this study indicate a possible ocular ABCC6 haploinsufficiency phenotype. Due to its late-onset and phenotypic similarities, misinterpretation as age-related macular degeneration is possible.",
keywords = "Aged, Aged, 80 and over, Alleles, Case-Control Studies, Coloring Agents/administration & dosage, Cross-Sectional Studies, Female, Fluorescein Angiography, Haploinsufficiency/genetics, Heterozygote, Humans, Indocyanine Green/administration & dosage, Male, Microscopy, Confocal, Middle Aged, Multidrug Resistance-Associated Proteins/genetics, Mutation/genetics, Optical Imaging, Photography, Prospective Studies, Pseudoxanthoma Elasticum/diagnosis, Retinal Diseases/diagnosis, Risk Assessment, Tomography, Optical Coherence",
author = "Martin Gliem and Isabel Wieg and Johannes Birtel and M{\"u}ller, {Philipp L} and Isabel Faust and Doris Hendig and Holz, {Frank G} and Finger, {Robert P} and {Charbel Issa}, Peter",
note = "{\textcopyright} Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.",
year = "2020",
month = aug,
doi = "10.1136/bjophthalmol-2018-313448",
language = "English",
volume = "104",
pages = "1089--1092",
journal = "BRIT J OPHTHALMOL",
issn = "0007-1161",
publisher = "BMJ PUBLISHING GROUP",
number = "8",

}

RIS

TY - JOUR

T1 - Retinal findings in carriers of monoallelic ABCC6 mutations

AU - Gliem, Martin

AU - Wieg, Isabel

AU - Birtel, Johannes

AU - Müller, Philipp L

AU - Faust, Isabel

AU - Hendig, Doris

AU - Holz, Frank G

AU - Finger, Robert P

AU - Charbel Issa, Peter

N1 - © Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.

PY - 2020/8

Y1 - 2020/8

N2 - AIM: Biallelic ABCC6 mutations cause pseudoxanthoma elasticum, a systemic disease characterised by calcification of elastic tissue and a specific retinal phenotype. In this study, we investigated if monoallelic ABCC6 mutations are also associated with retinal alterations.METHODS: In this prospective, cross-sectional, monocentre case-control study, carriers of monoallelic ABCC6 mutations were investigated and compared with age-matched controls. The retinal phenotype was characterised using fundus photography, fundus autofluorescence, confocal near-infrared reflectance imaging, spectral domain optical coherence tomography and in selected cases late-phase indocyanine green angiography.RESULTS: Thirty-eight subjects carrying monoallelic ABCC6 mutations (mean age 70.2 years, range 50-90, 26 female) were examined and compared with 77 age-matched controls (mean age 69.9 years, range 50-93, 43 female). Retinal alterations were more frequently found in carriers of monoallelic ABCC6 mutations compared with controls (50% vs 33.8%, p=0.107) with increasing prevalence at older age. Typical findings were peripapillary atrophy (37% vs 23%, p=0.184), pattern dystrophy-like changes (24% vs 12%, p=0.109), reticular pseudodrusen (21% vs 5%, p=0.019), small angioid streaks (8% vs 1%, p=0.105), choroidal neovascularisations and atrophic lesions (both 8% vs 0%, p=0.034). Late-phase indocyanine green angiography showed a reduced cyanescence centred to the posterior pole in 11 of 14 examined subjects with monoallelic ABCC6 mutations.CONCLUSION: The findings of this study indicate a possible ocular ABCC6 haploinsufficiency phenotype. Due to its late-onset and phenotypic similarities, misinterpretation as age-related macular degeneration is possible.

AB - AIM: Biallelic ABCC6 mutations cause pseudoxanthoma elasticum, a systemic disease characterised by calcification of elastic tissue and a specific retinal phenotype. In this study, we investigated if monoallelic ABCC6 mutations are also associated with retinal alterations.METHODS: In this prospective, cross-sectional, monocentre case-control study, carriers of monoallelic ABCC6 mutations were investigated and compared with age-matched controls. The retinal phenotype was characterised using fundus photography, fundus autofluorescence, confocal near-infrared reflectance imaging, spectral domain optical coherence tomography and in selected cases late-phase indocyanine green angiography.RESULTS: Thirty-eight subjects carrying monoallelic ABCC6 mutations (mean age 70.2 years, range 50-90, 26 female) were examined and compared with 77 age-matched controls (mean age 69.9 years, range 50-93, 43 female). Retinal alterations were more frequently found in carriers of monoallelic ABCC6 mutations compared with controls (50% vs 33.8%, p=0.107) with increasing prevalence at older age. Typical findings were peripapillary atrophy (37% vs 23%, p=0.184), pattern dystrophy-like changes (24% vs 12%, p=0.109), reticular pseudodrusen (21% vs 5%, p=0.019), small angioid streaks (8% vs 1%, p=0.105), choroidal neovascularisations and atrophic lesions (both 8% vs 0%, p=0.034). Late-phase indocyanine green angiography showed a reduced cyanescence centred to the posterior pole in 11 of 14 examined subjects with monoallelic ABCC6 mutations.CONCLUSION: The findings of this study indicate a possible ocular ABCC6 haploinsufficiency phenotype. Due to its late-onset and phenotypic similarities, misinterpretation as age-related macular degeneration is possible.

KW - Aged

KW - Aged, 80 and over

KW - Alleles

KW - Case-Control Studies

KW - Coloring Agents/administration & dosage

KW - Cross-Sectional Studies

KW - Female

KW - Fluorescein Angiography

KW - Haploinsufficiency/genetics

KW - Heterozygote

KW - Humans

KW - Indocyanine Green/administration & dosage

KW - Male

KW - Microscopy, Confocal

KW - Middle Aged

KW - Multidrug Resistance-Associated Proteins/genetics

KW - Mutation/genetics

KW - Optical Imaging

KW - Photography

KW - Prospective Studies

KW - Pseudoxanthoma Elasticum/diagnosis

KW - Retinal Diseases/diagnosis

KW - Risk Assessment

KW - Tomography, Optical Coherence

U2 - 10.1136/bjophthalmol-2018-313448

DO - 10.1136/bjophthalmol-2018-313448

M3 - SCORING: Journal article

C2 - 30923132

VL - 104

SP - 1089

EP - 1092

JO - BRIT J OPHTHALMOL

JF - BRIT J OPHTHALMOL

SN - 0007-1161

IS - 8

ER -