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Retinitis pigmentosa inversa

S Ferrucci1, S F Anderson, J C Townsend

  • 1Hu Hu Kam Memorial Hospital, Sacaton, Arizona 85247, USA.

Optometry and Vision Science : Official Publication of the American Academy of Optometry
|September 12, 1998
PubMed
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Retinitis pigmentosa inversa (RP inversa) is a rare inherited retinal disease causing central vision loss. This case highlights its unique progression and diagnostic challenges.

Area of Science:

  • Ophthalmology
  • Genetics
  • Retinal Diseases

Background:

  • Retinitis pigmentosa (RP) affects 1 in 3500-4500 individuals, typically causing peripheral vision loss.
  • Retinitis pigmentosa inversa (RP inversa) is a rare variant characterized by macular degeneration and central vision loss, preserving peripheral vision.

Observation:

  • A 47-year-old male presented with progressive macular atrophy and hyperpigmentation over 7 years.
  • Symptoms included nyctalopia, hearing loss, and rapid decline in visual acuity, leading to legal blindness.
  • Past medical history revealed chloroquine/hydroxychloroquine use for malaria prophylaxis.

Findings:

  • The patient developed dense central and paracentral scotomas, with intact peripheral visual fields.
  • Extensive examinations, including electroretinography and genetic testing, confirmed the diagnosis of RP inversa.

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  • Differential diagnoses considered included various retinal degenerations and toxic retinopathies.

    • Implications:

    • RP inversa presents a unique challenge in diagnosing and managing inherited retinal diseases.
    • While vitamin A palmitate may slow typical RP progression, its efficacy in RP inversa is undetermined.
    • Further research is needed to understand the pathogenesis and explore potential treatments for RP inversa.