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Related Experiment Video

Updated: Jun 6, 2026

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo

Published on: September 22, 2017

[Retinal involvement and genetic myopathy].

S Sacconi¹, S Baillif-Gostoli, C Desnuelle

¹Centre de référence des maladies neuromusculaires et SLA, hôpital Archet 1, CHU de Nice, 151, route de Saint-Antoine-de-Ginestière, 06202 Nice, France. sacconi.s@chu-nice.dr

Revue Neurologique

|November 13, 2010

Summary

This summary is machine-generated.

Genetic diseases can link eye and muscle issues, aiding diagnosis. Facioscapulohumeral muscular dystrophy (FSHD) may cause retinal vessel abnormalities, rarely leading to vision-threatening Coats-like disease.

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Last Updated: Jun 6, 2026

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo

Published on: September 22, 2017

Area of Science:

Ophthalmology and Genetics
Neuromuscular Disorders

Context:

The association between retinal and muscular involvement is uncommon but specific for diagnosing certain genetic disorders.
Retinal manifestations include retinitis pigmentosa (RP), pattern retinal dystrophy (PRD), and Coats disease (CD)-like exudative retinitis.
Muscle weakness, particularly in mitochondrial disorders, can co-occur with RP and PRD.

Purpose:

To highlight the diagnostic significance of combined retinal and muscular involvement in genetic diseases.
To describe retinal vascular abnormalities in facioscapulohumeral muscular dystrophy (FSHD) and their potential complications.
To emphasize the need for neurologist-ophthalmologist collaboration in managing these patients.

Summary:

Facioscapulohumeral muscular dystrophy (FSHD) can present with asymptomatic retinal vessel telangiectasias.
A subset of FSHD patients may develop exudative retinopathy mimicking Coats disease, risking retinal detachment.
Early diagnosis and management of these ocular complications are crucial.

Impact:

Facilitates earlier diagnosis of genetic neuromuscular disorders through ophthalmological findings.
Promotes timely intervention to prevent vision loss from retinal complications in FSHD.
Underscores the importance of interdisciplinary care for patients with complex genetic conditions.