Longitudinal Evaluation of Changes in Retinal Architecture Using Optical Coherence Tomography in Achromatopsia-Reference-Cited by-同舟云学术

Longitudinal Evaluation of Changes in Retinal Architecture Using Optical Coherence Tomography in Achromatopsia

Published:2022-08-05 Issue:9 Volume:63 Page:6
ISSN:1552-5783
Container-title:Investigative Opthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

Triantafylla Magdalini¹,Papageorgiou Eleni¹,Thomas Mervyn G.¹,McLean Rebecca¹,Kohl Susanne²,Sheth Viral¹,Tu Zhanhan¹,Proudlock Frank A.¹,Gottlob Irene¹³

Affiliation:

1. Ulverscroft Eye Unit, Neuroscience, Psychology and Behaviour, Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, University of Leicester, United Kingdom

2. Molecular Genetics Laboratory, Institute for Ophthalmic Research, Department for Ophthalmology, University of Tübingen, Tübingen, Germany

3. Department of Neurology, Cooper University Hospital, Cooper Neurological Institute, Cooper Medical School of Rowan University, Camden, New Jersey, United States

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

Reference35 articles.

1. The cone dysfunction syndromes;Aboshiha;Br J Ophthalmol,2016

2. Clinical utility gene card for: achromatopsia – update 2013;Kohl;Eur J Hum Genet,2013

3. Total colour blindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel;Kohl;Nat Genet,1998

4. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21;Kohl;Hum Mol Genet,2000

5. Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia;Kohl;Am J Hum Genet,2002

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