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Retinal dystrophies

Retinal dystrophies. Marion Blazé. The retina. M ade up of Rod and Cone Photoreceptors Rods are good at 'seeing ': things that move in the dark in black and white in less detail. The retina. Cones are good at ‘seeing’: things that are still in daylight

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Retinal dystrophies

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  1. Retinal dystrophies Marion Blazé

  2. The retina • Made up of Rod and Cone Photoreceptors • Rods are good at 'seeing': • things that move • in the dark • in black and white • in less detail

  3. The retina • Cones are good at ‘seeing’: • things that are still • in daylight • in colour • in fine detail

  4. What is Retinal Dystrophy? • Umbrella term: • Refer to problem with the • rod and cone photoreceptors • Failure to recycle – damage to tissue • The photoreceptors either do not • work from birth or slowly stop • working over a period of time

  5. What is Retinal Dystrophy? Includes: Retinitis pigmentosa Cone dystrophy Rod monochromatism Rod-cone dystrophy Cone-rod dystrophy

  6. Retinitis pigmentosa in ‘pure’ form, only rods affected progressive may retain good central vision

  7. Retinitis pigmentosa onset usually 8 to 18 years first symptoms, night blindness or ‘clumsiness’ ‘Cock-eyed’ by Ryan Knighton syndromes – Usher’s, Lawrence-Moon, etc

  8. Cone dystrophy Cones affected Classic form – Stargardt’s (‘Look out Marcus!’) Presentation usually after age 6 Progressive Usually retain peripheral vision for mobility Sometimes diagnosed incorrectly Night vision can be better than day

  9. Best’s disease Also know as ‘vitelliform macular dystrophy’ Rarer than Stargardt’s Presentation usually later Progressive but macula may be spared Usually retain reading vision Some become legally blind from complications - macula scarring, retinal detachment

  10. Rod monochromatism Non-progressive retinal dystrophy Totally colour-blind Very photophobic

  11. Rod-cone dystrophy Rod effect more prominent Like RP Progressive May lead to total blindness (in forties)

  12. Cone-rod dystrophy Cone effect more prominent Like ‘reverse RP’ Progressive May lead to total blindness (in thirties)

  13. Educational implications To do with functional vision rather than diagnosis Peripheral loss mobility affected need good light magnification perhaps detrimental might lose sight of things

  14. Educational implications Central loss often need lower light levels magnification required eccentric viewing shouldn’t rely on colour

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