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Retinal dystrophy in Jeune's syndrome
Insights
Jeune syndrome, a genetic disorder affecting skeleton, kidneys, and eyes, can progress over time. Ocular abnormalities in Jeune syndrome may worsen, impacting vision and requiring long-term monitoring.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Jeune syndrome (νεφροφθαλμική δυσπλασία) is an autosomal-recessive disorder.
- It is characterized by skeletal, renal, and ocular abnormalities.
- While often fatal in infancy due to respiratory issues, some patients survive to adulthood.
Observation:
- This study followed two siblings with Jeune syndrome for 3.7 years.
- Visual field and electroretinogram (ERG) testing were used for monitoring.
- Evidence of disease progression was observed in both patients.
Findings:
- Progressive electroretinographic abnormalities were documented.
- One patient showed a decrease in rod and cone responses.
- The other patient exhibited an increased b-wave implicit time with 30-Hz flicker stimulation.
Implications:
- Ocular abnormalities in Jeune syndrome can progress over time.
- This progression impacts visual function and prognosis.
- Findings are crucial for genetic counseling and long-term patient management.
Abstract:
Jeune's syndrome is an autosomal-recessive condition characterized by multiple organ abnormalities, the most severe of which affect the skeleton, kidneys, and eyes. Severe respiratory insufficiency frequently results in death in infancy, but several patients have been reported to survive to adulthood. For this reason the prognosis for patients with ocular abnormalities is of interest in counseling families. We report a sibship of two patients who showed evidence for progression by visual field and electroretinogram testing when followed up over 3.7 years. Progressive electroretinographic abnormalities consisted of the following: progressive decrease in responses mediated by dark-adapted rods and both dark- and light-adapted cones in the first patient and progressive increase in b-wave implicit time elicited by 30-Hz flicker stimulation in the second patient.