Retinitis pigmentosa is a genetic disease which causes progressive and irreversible damage to the retina, resulting in blindness. It affects about 1 in 4,000 people. There are at least 50 genes known to cause retinitis pigmentosa, and inheritance patterns vary.

It is the most common cause of inherited blindness.

Presentation

  • Often begins as night-time blindness – sometimes in childhood, but may be later
  • Reduced visual fields – starts peripherally and extends towards the centre
  • Blindness occurs between adolescence and middle age
  • Irreversible – can be delayed with use of vitamin A

Pathology

  • Degeneration of rods and cones
  • Results in displacement of melanin-containing cells from deeper layers of the retina closer to the surface of the retina
  • Can be seen as pigmented patches on visualisation of the optic disc
  • There may also be optic atrophy
View of the retina in retinitis pigments - showing pigmentation of the periphery

View of the retina in retinitis pigmentosa – showing pigmentation of the periphery

References

Murtagh’s General Practice. 6th Ed. (2015) John Murtagh, Jill Rosenblatt

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