Retinitis Pigmentosa
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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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Dr Tom Leach

Dr Tom Leach MBChB DCH EMCert(ACEM) currently works as a GP Registrar and an Emergency Department CMO in Australia. He is also a Clinical Associate Lecturer at the Australian National University. After graduating from his medical degree at the University of Manchester in 2011, Tom completed his Foundation Training at Bolton Royal Hospital, before moving to Australia in 2013. He started almostadoctor whilst a third year medical student in 2009. Read full bio

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