A large group of rare inherited conditions that lead to disturbance of different parts or levels of the retina.
Clinical Features
Photoreceptor dystrophies lead to loss of the rod and/or cone photoreceptors in the retina. Retinitis pigmentosa is the most common (approximately 1 in 4000) where loss of the rods leads to night blindness. Age of onset, progression and impact on vision are very variable and usually relate to the underlying pattern of inheritance. It is rare to develop symptoms after age 30. Retinitis pigmentosa may be confined to the eye or be associated with disorders of other parts of the body particularly the brain causing, for example, disorders of movement or deafness.
The macula may be affected by Best’s or Stargardt’s dystrophy with loss of central vision
Vitreo-retinal dystrophies such as Stickler’s predispose to retinal detachment
