Description of a patient cohort with Hereditary Sensory Neuropathy type 1 without retinal disease Macular Telangiectasia type 2 ‐ implications for retinal screening in HSN1

Author:

Rodrigues Filipa Gomes1234ORCID,Pipis Menelaos5,Heeren Tjebo F.C.123,Fruttiger Marcus3,Gantner Mari6,Vermeirsch Sandra137,Okada Mali8,Friedlander Martin6,Reilly Mary M5,Egan Catherine123

Affiliation:

1. Medical Retina Service Moorfields Eye Hospital NHS Foundation Trust London UK

2. National Institute for Health Research Biomedical Research Centre Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology London UK

3. UCL Institute of Ophthalmology University College London London UK

4. Ophthalmology Department Hospital de Vila Franca de Xira Vila Franca de Xira Portugal

5. Centre for Neuromuscular Diseases UCL Queen Square Institute of Neurology London UK

6. Lowy Medical Research Institute La Jolla California USA

7. Hôpital Ophtalmique Jules‐Gonin, Fondation Asile des Aveugles Université de Lausanne Lausanne Switzerland

8. Royal Victorian Eye and Ear Hospital Melbourne Australia

Funder

Lowy Medical Research Institute

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

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