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28.02.2019 | Clinical Case Report

Cockayne syndrome in adults: complete retinal dysfunction exploration of two case reports

verfasst von: Marc Figueras-Roca, Vanessa Budi, Montserrat Morató, Anna Camós-Carreras, José Esteban Muñoz, Bernardo Sánchez-Dalmau

Erschienen in: Documenta Ophthalmologica | Ausgabe 3/2019

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Abstract

Purpose

Cockayne syndrome is a rare autosomal recessive disease, also known as a progeria disorder, causing dwarfism, senile appearance and multiple systemic affections. Ophthalmic abnormalities are frequent, for example, in the forms of pigmentary retinopathy with low visual acuity. We present two genetic-confirmed cases with a detailed electrophysiological exploration of their retinal findings.

Methods

Complete ophthalmic exploration is undertaken, including full-field electroretinogram under ISCEV guidelines and multifocal electroretinogram (RETI-scan science, Roland-Consult, Germany), ultra-wide-field retinography and autofluorescence (Optomap, Optos PLC, Dunfermline, Scotland, UK) and macular and retinal nerve fibre layer optical coherence tomography (Cirrus, Carl-Zeiss Meditec, Inc, Dublin, CA).

Results

Both cases presented with CSA/ERCC8 mutation and low visual acuity. Diffuse pigmentary retinopathy with macular atrophy was found in ultra-wide-field retinography and autofluorescence. Electrophysiological testing reported wide retinal dysfunction on both cone and rod system with macular involvement.

Conclusions

Pigmentary retinopathy in CS could translate a wide dysfunction of the retina with major affection of external retinal layers of both cone and rod cells. Macular implication is also present and could explain progressive vision loss in such cases.

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Titel: Cockayne syndrome in adults: complete retinal dysfunction exploration of two case reports
verfasst von: Marc Figueras-Roca
Vanessa Budi
Montserrat Morató
Anna Camós-Carreras
José Esteban Muñoz
Bernardo Sánchez-Dalmau
Publikationsdatum: 28.02.2019
Verlag: Springer Berlin Heidelberg
Erschienen in: Documenta Ophthalmologica / Ausgabe 3/2019
Print ISSN: 0012-4486
Elektronische ISSN: 1573-2622
DOI: https://doi.org/10.1007/s10633-019-09681-y

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Cockayne syndrome in adults: complete retinal dysfunction exploration of two case reports

Abstract

Purpose

Methods

Results

Conclusions

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Springer Medizin

Abstract

Purpose

Methods

Results

Conclusions

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