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, Vol. 104, No. 8, 08.2020, p. 1089-1092.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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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 -