CRB1 maculopathy presenting as fenestrated sheen macular dystrophy with 15-year follow-up.

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Abstract

We present two patients, the proband and the affected sibling, with biallelic CRB1 mutations leading to a macular dystrophy.

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Journal

Journal ID (iso-abbrev): Doc Ophthalmol

Title: Documenta ophthalmologica. Advances in ophthalmology

Publisher: Springer Science and Business Media LLC

ISSN (Electronic): 1573-2622

ISSN (Print): 0012-4486

Publication date (Electronic): Jun 2021

Volume: 142

Issue: 3

Affiliations

[1 ] Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University Medical Center, New York University School of Medicine, New York, NY, USA.

[2 ] Vitreous Retina Macula Consultants of New York, New York, NY, USA.

[3 ] Department of Ophthalmology and Visual Sciences, University of Illinois At Chicago, 1905 W Taylor St, Chicago, IL, 60612, USA.

[4 ] Wheaton Eye Clinic, Wheaton, IL, USA.

[5 ] Department of Ophthalmology and Visual Sciences, University of Illinois At Chicago, 1905 W Taylor St, Chicago, IL, 60612, USA. grassim@uic.edu.

[6 ] Grassi Retina, Naperville, IL, USA. grassim@uic.edu.

Article

Publisher Item ID: 10.1007/s10633-020-09810-y

DOI: 10.1007/s10633-020-09810-y

PubMed ID: 33387055

SO-VID: a28964b9-87dc-4740-b47a-9bbdadeecb13

History

Keywords: Retina,Macular dystrophy,CRB1 mutation,Retinal degenerative diseases

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Keywords: Retina, Macular dystrophy, CRB1 mutation, Retinal degenerative diseases

CRB1 maculopathy presenting as fenestrated sheen macular dystrophy with 15-year follow-up.

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Karger: Ophthalmology

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