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Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle

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The Eye on Mitochondrial Disorders.

Josef Finsterer¹, Sinda Zarrouk-Mahjoub², Alejandra Daruich³

¹Krankenanstalt Rudolfstiftung, Vienna, Austria fifigs1@yahoo.de.

Journal of Child Neurology

|August 16, 2015

Summary

This summary is machine-generated.

Ophthalmologic issues are common in mitochondrial disorders but often missed. Early diagnosis of these eye conditions is crucial for effective treatment and better patient outcomes.

Keywords:

cataract eye mitochondrial disease nerve ophthalmologic optic ptosis retina vision

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Area of Science:

Ophthalmology
Genetics
Neurology

Background:

Ophthalmologic manifestations are often overlooked in mitochondrial disorders.
These eye conditions can be primary or secondary to the disorder.
Mitochondrial disorders affect both syndromic and nonsyndromic patients.

Purpose of the Study:

To review the etiology, pathogenesis, diagnosis, and treatment of ophthalmologic manifestations in mitochondrial disorders.
To highlight the importance of recognizing these ocular symptoms.
To emphasize the need for early diagnosis and management.

Main Methods:

Literature review of publications on ophthalmologic involvement in mitochondrial disorders.
Medline database search using relevant keywords.

Main Results:

Common manifestations include ptosis, progressive external ophthalmoplegia, optic atrophy, retinopathy, and cataracts.
Less common findings involve nystagmus, cornea, ciliary body, intraocular pressure, and choroidal abnormalities.
The eye is frequently affected in various mitochondrial diseases.

Conclusions:

Early recognition and diagnosis of ophthalmologic manifestations are vital.
Symptomatic treatment can provide partial or complete beneficial effects.
Appropriate diagnosis ensures optimal management and outcomes for patients with mitochondrial disorders.