Symptoms of Retinitis Pigmentosa

• Finding bright lights uncomfortable
• Taking longer to adjust to darkness
• Losing night vision 
• Losing peripheral vision
• Losing central vision 
• Feeling as if there is a “curtain” covering the eye
• Having trouble seeing color and losing color vision 

Alternative Names for Retinitis Pigmentosa

Pigmentary Retinopathy

Rod Cone Dystrophy

Tapetoretinal Degeneration

"RP"

RP was named Retinitis Pigmentosa because the disease has to do with the retina and could lead to color blindness.

How Common is Retinitis Pigmentosa

RP is a rare disorder because 1 out of 4,000 people get it. There are 200,000 cases in US each year.

It is more common in males, Americans, and Europeans.

Tests Used to Diagnose Retinitis Pigmentosa

Genetic Testing

Dilated Eye Exam

Retinal Photograph

Fluorescein Angiography

Visual Field Test

Optical Coherence Tomography

Electro-diagnostic tests

Vocabulary Terms:

Dominant: a trait that shows up when present

Recessive: a trait that only shows up when no dominant allele is expressed

Carrier: one who carries a recessive allele but does not openly display the trait

Autosomal: a non-sex chromosome 

Mutation: a change in the codons inside of the DNA strand, causing problems

Retinal: having to do with the part of the eye that processes images

Rod cells: cells in the eye that function with less light (found on the outer edges of retina and help with peripheral vision)

Cone cells: cells in the eye that function better with more light (help with seeing color)

RDH5: gene that helps maintain normal eyesight

11-cis retinol dehydrogenase 5: enzyme necessary for normal vision (found in the retinal pigment epithelium)

Retinal Pigment Epithelium (RPE): a thin layer of cells at the back of the eye

What Causes Retinitis Pigmentosa

RP is caused by a mutation in the Arrestin gene (RDH5). This gene is found in the retinal pigment epithelium and provides instructions for making an enzyme called 11-cis retinol dehydrogenase 5, which is needed for normal vision, especially in dark places. This enzyme is found in the retina. The mutation is found on the 12th chromosome, on band 12q. 13.2.