A family Doctor's Tale - RETINA PIGMENTOSA

DOC I HAVE RETINITIS PIGMENTOSA

Retinitis pigmentosa is a rare condition in which the retinal pigmentation cause progressive loss of vision.It is a inherited condition .Unfortunately there  is usually no cure.


Retinitis pigmentosa is a slow degenerative disease of the retina.

Retinitis pigmentosa is a genetically determined disease in which

abnormal photoreceptors (rods and cones) or the Retinitis

pigment epithelium of the retina cause progressive loss of vision.

Initially there is night blindness due to the abnormal photoreceptors.

This is followed by the loss of peripheral visual field known as tunnel vision which may persist for some years.

Finally the macular region is affected with loss of central vision in the later stages.

In rare cases blindness may occur in childhood.

The cause is usually in the genes and of the recessive trait.

There is a mild form of dominant trait.

Rarely it is sex linked and can be severe.

Symptoms:

1.loss of night vision even in childhood

2.tunnel vision occurs at age of 40-50 for several years or decades

3.loss of central vision usually at 50-60 years of age

Signs:

1. In early stage, direct opthalmoscopy show small spidery black spots

2. vessels are sheathed with pigments in some areas

3. Retinal vessels become attenuated (thinned)

4. Optic atrophy(cellophane maculopathy) sets in

5. posterior subcapsular cataracts form at late stage.

Retinitis pigmentosa is diagnosed by:

1. electroretinography (ERG) show progressive loss of photoreceptor function

2.Visual field testing show loss of peripheral vision

3.Flourescin angiography may show dark pigments to establish the presence of Retinitis pigmentosa.

The complications of Retinitis pigmentosa are:

Partial to complete loss of vision.

There is no cure for Retinitis pigmentosa.

Several methods of treatment aimed at slowing down the progression of

loss of vision have been tried:

1.daily intake of 15000 IU of vitamin A palmitate.

2.Retinitis transplants,

3 artificial Retinitis implants,

4.gene therapy,

5.stem cells,

Retinitis pigmentosa must be monitored regularly:

1.regular follow up with the eye doctor.

2.examining the retina for further damage

3.analyzing the visual fields.

The prognosis is very poor as progression to blindness is the rule.

There is no prevention for Retinitis pigmentosa.

The following may help:

1.Genetic counselling

2.Examination of family members for signs of loss of vision