Related Experiment Videos
[Hyperornithinaemia in patients with retinal dystrophy].
1Augenklinik mit Poliklinik, Universität Erlangen-Nürnberg, Erlangen. ursula.mayer@augen.imed.uni-erlangen.de
Summary
Four patients with retino-choroidal dystrophy had elevated serum ornithine levels, suggesting a potential link to gyrate atrophy. This finding aids in differential diagnosis for visual field narrowing and ERG alterations.
Area of Science:
- Ophthalmology
- Medical Genetics
- Biochemistry
Background:
- Four patients with advanced retino-choroidal dystrophy presented with concentric visual field narrowing and electroretinogram (ERG) alterations.
- Clinical presentation showed degenerative areas resembling gyrate atrophy.
- Serum ornithine levels were measured due to suspected similarities with gyrate atrophy.
Observation:
- Patients included three females aged 58-76 and an 11-year-old boy.
- Serum ornithine levels were analyzed in all patients.
- Elevated ornithine levels were observed, ranging from 2.0 to 3.6 mg/dl (normal <1.8 microg/dl).
Findings:
- Serum ornithine levels were elevated, approximately twice the normal range.
- Observed ornithine levels were lower than those typically seen in classic gyrate atrophy.
- The findings suggest a distinct condition or a milder form of gyrate atrophy.
Implications:
- This study expands diagnostic possibilities for retinal dystrophies with visual field and ERG abnormalities.
- Highlights the importance of ornithine level determination in differential diagnosis.
- Suggests potential therapeutic strategies, such as vitamin B6 or dietary changes, particularly for younger patients.