What is Medicine – What is Retinitis Pigmentosa?
Retinitis pigmentosa is a congenital disorders which lead to the degeneration of the cones and rods in the retina. Rods will generate more than cones.
Retinitis pigmentosa may present with symptoms such as night blindness and loss of peripheral vision. This may follow with central loss.
Retinitis pigmentosa may stand as an isolated disease on its own or part of the systemic disease.
In term of systemic disease. Retinitis pigmentosa is part of the symptoms in Usher’s syndrome which also cause loss of hearing. Besides that Bassen Kornzweig syndrome ( disorder of fat metabolism and absorption) may also present with retinitis pigmentosa and progressive neurological symptoms. Refsum’s disease is another disease duet to metabolic disorder of phytanic acid, where the patients may suffer from hearing loss, neurological symptoms, dermatological symptoms and retinitis pigmentosa.
On fundocscopy, retinitis pigmentosa is presented as bone spicule pigmentation which is more concentrated around the mid peripheral area of the retina. It appears as sharp pointed objects which is similar to network appearance of bone matrix.
Retinitis pigmentosa may also be associated with pale or waxy appearance of the optic disc with narrowing of the arterioles.
In terms of management, genetic counselling is very important as a preventive measure.
The treatment of retinitis pigmentosa may include referral to an ophthalmologist for assessing the patients and diagnosing them. Vision aids and sunglasses protect accelerated damage of the retina. Regular check up is also essential to check for any worsen condition such as cataracts.
Options of medication that may be considered include oral acetazolamide, topical acetazolamide, vitamin and antioxidant supplements, steroids injections and anti VEGF injections.
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