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Early diagnosis and evolution of dominant retinitis pigmentosa
Insights
Early electroretinographic abnormalities in a 5-month-old indicate retinitis pigmentosa (RP). Progressive scotopic electroretinography decline occurred over four years, preceding clinical signs of RP.
Area of Science:
- Ophthalmology
- Genetics
- Retinal Diseases
Background:
- Autosomal dominant retinitis pigmentosa (adRP) is a group of inherited retinal diseases.
- Early diagnosis and understanding of disease progression are crucial for potential interventions.
Observation:
- A 5-month-old infant, offspring of a family with adRP, presented with electroretinographic abnormalities.
- Serial evaluations over four years included electroretinography and ophthalmoscopy.
Findings:
- Electroretinography at 5 months showed reduced dark-adapted b-wave amplitude, a prominent X-wave, and absent second b-wave suppression.
- Scotopic electroretinography amplitude progressively reduced over four years.
- Light-adapted (cone) function remained normal.
- Clinical signs of retinitis pigmentosa, including pigment clumping and vessel attenuation, appeared in the third year.
Implications:
- Electroretinography can detect retinitis pigmentosa in infants before clinical manifestations.
- This case highlights the potential for early functional deficits in inherited retinal diseases.
- Understanding early functional changes may inform future therapeutic strategies for RP.
Abstract:
A 5-month-old girl with retinitis pigmentosa was the healthy offspring of a family with progressive autosomal dominant retinitis pigmentosa. Serial evaluation by both electroretinograph and ophthalmoscopy over a four-year period confirmed the diagnosis and indicated that as early as 5 months of age, electroretinographic abnormalities were present in the patient. These consisted of a reduction in the dark-adapted b-wave amplitude, prominent X-wave, and no suppression of the second b-wave response to paired light stimuli at 75 msec. Progressive reduction in the scotopic electroretinography amplitude has occurred over the ensuing four years, although light-adapted (cone) function still appears normal. Clinical evidence of retinitis pigmentosa became apparent only late in the patient's third year when fine peripheral pigment clumping and vessel attentuation could be seen.