Retinitis Pigmentosa

Is RP associated with other diseases?

RP is just one type of group of inherited diseases that cause degeneration of the retina. Other types include rare syndromes that can usually be diagnosed at a Retinal Clinic. They are generally genetic and follow one of the 3 primary inheritance patterns as mentioned in Number 7.

Some of these syndromes are:-

Bardet-Biedl (Lawrence-Moon) Syndrome: RP possibly accompanied by physical abnormality, obesity, kidney disease and mental retardation.

Bassen-Kornzweig Syndrome (Abetalipoproteineinemia): RP accompanied by progressive neurological problems.

Choroideremia: This disease has symptoms similar to Retinitis Pigmentosa but degeneration of both the retina and the choroid occur.

Gyrate Atrophy: This disease is associated with a deficiency in the enzyme ornithine Aminotransferase. Myopia, night blindness, cataracts and loss of peripheral vision occur.

Leber Congenital Amaurosis: This is characterised by severe visual impairment from birth or very early childhood.

Refsum Syndrome: This is a complex disease. Hearing loss, neurological problems, dry or flaky skin can accompany RP. Patients also have oddly shaped red blood cells. Control of the Phytanic acid level in the blood is a crucial part of the management of Refsum Syndrome.