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Leber's congenital amaurosis--a new syndrome with a cardiomyopathy
I M Russell-Eggitt1, D S Taylor, P T Clayton
1Department of Ophthalmology, Hospital for Sick Children, London.
Insights
This study identifies a severe genetic disorder characterized by infantile nystagmus, vision loss, and cardiac issues. Affected individuals often experience significant health problems and reduced lifespan, highlighting a critical need for further research.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Nystagmus, photophobia, and reduced electroretinogram responses are key indicators of visual impairment.
- Genetic disorders can manifest with complex multisystemic symptoms, affecting multiple family members.
Observation:
- Seven individuals from four families presented with early-onset nystagmus and severe vision impairment.
- Six patients experienced life-threatening cardiac failure in infancy, with several early deaths reported.
Findings:
- The condition is associated with a markedly reduced or absent electroretinogram, indicating severe retinal dysfunction.
- Surviving children exhibit persistent nystagmus, poor visual acuity (less than 6/60), and a distinct short, obese habitus.
Implications:
- This research highlights a severe, likely genetic, syndrome impacting vision and cardiac health in infants.
- Understanding this condition is crucial for early diagnosis, genetic counseling, and potential therapeutic strategies.
Abstract:
Seven members of four families had nystagmus noted by 4 months of age, poor vision, photophobia, and a markedly reduced or absent electroretinogram. Six of these patients had a life threatening episode of cardiac failure in infancy. There were also two neonatal deaths, and one of the affected children died at 2 years and one at 19 years. The five surviving children are well, remain with nystagmus, and have visual acuities of less than 6/60, with the eldest two having lost perception of light. They have a short obese habitus distinct from that of their unaffected siblings and parents.