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A unilateral foveal vitelliform lesion in a choroideremia carrier

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@article{eda97f1e8a6546098006e004216b8ac2,
title = "A unilateral foveal vitelliform lesion in a choroideremia carrier",
abstract = "PURPOSE: To describe a unilateral foveal vitelliform lesion associated with subnormal visual acuity in a choroideremia carrier.METHODS: Retrospective case report, assessment of best-corrected visual acuity, fundus photography, wide-angle scanning laser ophthalmoscopy, optical coherence tomography, and microperimetry.PATIENT: A 37-year-old woman with a pathogenic 907C>T mutation in the choroideremia gene encoding Rab escort protein-1 (REP-1) presented with blurred vision in her left eye.RESULTS: Snellen best-corrected visual acuity was 20/20 in the right eye and 20/32 in the left eye, a unilateral decrease since it was 20/20 in both eyes at the most recent examination nine years earlier. In the left eye, a large vitelliform lesion with a diameter of 1300 µm had developed in the fovea, whereas in the right eye, a smaller similar lesion was seen close to the fovea. Both eyes showed classical radial patterns of multiple bright fundus patches with associated autofluorescence defects and focal drusenoid lesions of the outer retina.CONCLUSION: With its large size and foveal location the vitelliform lesion in this patient's left eye is an unusual manifestation in an otherwise common REP-1 mutation carrier state, and its unilaterality fits the assumption of random X-chromosome inactivation.",
author = "Torm, {Marie Elise W} and Christina Eckmann-Hansen and Christensen, {S{\o}ren K} and Michael Larsen",
year = "2021",
doi = "10.1097/ICB.0000000000001062",
language = "English",
journal = "Retinal Cases and Brief Reports",
issn = "1935-1089",
publisher = "Lippincott Williams & Wilkins",

}

RIS

TY - JOUR

T1 - A unilateral foveal vitelliform lesion in a choroideremia carrier

AU - Torm, Marie Elise W

AU - Eckmann-Hansen, Christina

AU - Christensen, Søren K

AU - Larsen, Michael

PY - 2021

Y1 - 2021

N2 - PURPOSE: To describe a unilateral foveal vitelliform lesion associated with subnormal visual acuity in a choroideremia carrier.METHODS: Retrospective case report, assessment of best-corrected visual acuity, fundus photography, wide-angle scanning laser ophthalmoscopy, optical coherence tomography, and microperimetry.PATIENT: A 37-year-old woman with a pathogenic 907C>T mutation in the choroideremia gene encoding Rab escort protein-1 (REP-1) presented with blurred vision in her left eye.RESULTS: Snellen best-corrected visual acuity was 20/20 in the right eye and 20/32 in the left eye, a unilateral decrease since it was 20/20 in both eyes at the most recent examination nine years earlier. In the left eye, a large vitelliform lesion with a diameter of 1300 µm had developed in the fovea, whereas in the right eye, a smaller similar lesion was seen close to the fovea. Both eyes showed classical radial patterns of multiple bright fundus patches with associated autofluorescence defects and focal drusenoid lesions of the outer retina.CONCLUSION: With its large size and foveal location the vitelliform lesion in this patient's left eye is an unusual manifestation in an otherwise common REP-1 mutation carrier state, and its unilaterality fits the assumption of random X-chromosome inactivation.

AB - PURPOSE: To describe a unilateral foveal vitelliform lesion associated with subnormal visual acuity in a choroideremia carrier.METHODS: Retrospective case report, assessment of best-corrected visual acuity, fundus photography, wide-angle scanning laser ophthalmoscopy, optical coherence tomography, and microperimetry.PATIENT: A 37-year-old woman with a pathogenic 907C>T mutation in the choroideremia gene encoding Rab escort protein-1 (REP-1) presented with blurred vision in her left eye.RESULTS: Snellen best-corrected visual acuity was 20/20 in the right eye and 20/32 in the left eye, a unilateral decrease since it was 20/20 in both eyes at the most recent examination nine years earlier. In the left eye, a large vitelliform lesion with a diameter of 1300 µm had developed in the fovea, whereas in the right eye, a smaller similar lesion was seen close to the fovea. Both eyes showed classical radial patterns of multiple bright fundus patches with associated autofluorescence defects and focal drusenoid lesions of the outer retina.CONCLUSION: With its large size and foveal location the vitelliform lesion in this patient's left eye is an unusual manifestation in an otherwise common REP-1 mutation carrier state, and its unilaterality fits the assumption of random X-chromosome inactivation.

U2 - 10.1097/ICB.0000000000001062

DO - 10.1097/ICB.0000000000001062

M3 - Journal article

C2 - 33003127

JO - Retinal Cases and Brief Reports

JF - Retinal Cases and Brief Reports

SN - 1935-1089

ER -

ID: 62051836