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[Carbohydrate-deficient glycoprotein syndrome and progression in electrophysiological results]
F Bourcier1, C Billard, A Toutain
1Service d'Ophtalmologie, Hôpital R. Ballanger, 93602 Aulnay-sous-Bois, France.
Insights
Carbohydrate-deficient glycoprotein syndrome type Ia (CDGS Ia) causes progressive vision loss and psychomotor delay. Early electroretinography is crucial for diagnosing this rare genetic disorder.
Area of Science:
- Ophthalmology
- Clinical Genetics
- Neuroscience
Background:
- Carbohydrate-deficient glycoprotein syndrome type Ia (CDGS Ia) is a rare genetic disorder.
- CDGS Ia can lead to significant neurological and visual impairment.
Observation:
- A 12-month-old male with CDGS Ia exhibited hypotonia, ataxia, strabismus, and nystagmus.
- Brain MRI revealed pontocerebellar hypoplasia.
- Electrophysiological examinations showed progressive retinal dysfunction.
Findings:
- Diagnosis of CDGS Ia was confirmed at 3 years of age through genetic testing.
- By 6 years, the patient had a flat electroretinogram and severe psychomotor delay.
- The syndrome presented with progressive clinical and electrophysiological abnormalities.
Implications:
- CDGS Ia is a newly identified cause of progressive retinal degeneration.
- Electroretinography is recommended for patients with unexplained psychomotor retardation.
- Strabismus and electrophysiological anomalies may indicate CDGS Ia.
Purpose:
To document the progression of clinical and electrophysiological abnormalities in an infant with carbohydrate-deficient glycoprotein syndrome type Ia (CDGS Ia) over a period of 5 years.
Patient And Methods:
A 12-month-old male underwent clinical ophthalmic and electrophysiological examination at the age of 1, 2, and 6 years. Neurological examination, magnetic resonance imaging of the brain and a genetic study were also undertaken.
Results:
Clinical examination revealed hypotonia and ataxia with a convergent squint, nystagmus, myopia with pontocerebellar hypoplasia on the MRI of the brain. The initial electroretinogram showed reduced amplitude of the scotopic and photopic b wave. At 3 years of age, biological and genetic evaluations confirmed the diagnosis of CDGS Ia. At 6 years of age, the electroretinogram was flat with a marked delay in psychomotor development.
Conclusion:
Carbohydrate-deficient glycoprotein syndrome type Ia is a recently described cause of progressive retinal degeneration and an electroretinogram should be taken in patients with psychomotor retardation of unknown etiology. In addition, strabismus associated with electrophysiological signs of anomaly should raise the possibility of CDGS Ia.