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Ciliary and retinal changes in myotonic dystrophy.

S Hayasaka, M Kiyosawa, S Katsumata

Archives of Ophthalmology (Chicago, Ill. : 1960)

|January 1, 1984

Summary

Ocular findings in myotonic dystrophy patients include ciliary process depigmentation and unique retinal lesions. These changes may explain hypotony and present as patterned dystrophies or peripheral yellow flecks.

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Area of Science:

Ophthalmology
Medical Genetics

Background:

Myotonic dystrophy is a multisystem disorder with various ocular manifestations.
Previous research has indicated potential retinal and ciliary body involvement.

Observation:

Cycloscopy, ophthalmoscopy, and fluorescein angiography were performed on 15 patients with myotonic dystrophy.
Ocular hypotony was noted in six patients, associated with depigmentation of ciliary processes.

Findings:

Eight patients exhibited retinal lesions: three with butterfly-shaped dystrophy, two with reticular dystrophy, and three with peripheral yellow flecks.
These lesions, located at the retinal pigment epithelium or deep retinal layers, minimally impacted visual function.
Psychophysical and electrophysiologic tests showed normal or mildly affected results.

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Implications:

The observed ciliary process depigmentation may contribute to ocular hypotony in myotonic dystrophy.
Butterfly-shaped and reticular dystrophies could represent variants of retinal pigment epithelium patterned dystrophy.
Unique peripheral yellow flecks in a stone-wall configuration warrant further investigation in myotonic dystrophy patients.