A Novel Type of Autosomal Dominant Episodic Nystagmus Segregating with a Variant in the FRMD5 Gene-Reference-Cited by-同舟云学术

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A Novel Type of Autosomal Dominant Episodic Nystagmus Segregating with a Variant in the FRMD5 Gene

Published:2024-04-22 Issue: Volume: Page:1-10
ISSN:0165-8107
Container-title:Neuro-Ophthalmology
language:en
Short-container-title:Neuro-Ophthalmology

Author:

Hammar Björn¹,Paulsson Sofia¹²^ORCID,Helgadottir Hafdis T.³⁴^ORCID,Albinsson John¹,Naumovska Magdalena¹,Sheikh Rafi¹,Kvarnung Malin³⁴^ORCID

Affiliation:

1. Department of Ophthalmology, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, Lund, Sweden

2. Department of Ophthalmology, County Hospital Ryhov, Jönköping, Sweden

3. Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden

4. Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden

Funder

Skåne University Hospital

Publisher

Informa UK Limited

Link

https://www.tandfonline.com/doi/pdf/10.1080/01658107.2024.2338562

Reference38 articles.

1. Zee RJ, La DS. The Neurology of Eye Movements. 5th ed. New York, NY: Oxford Universiy Press; 2015.

2. Living with nystagmus: a qualitative study

3. Oculocutaneous albinism

4. Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome

5. Gene Therapy for Leber's Congenital Amaurosis is Safe and Effective Through 1.5 Years After Vector Administration

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