retinitis pigmentosa Flashcards
1
Q
what does retinitis pigmentosa primarily affect?
A
peripheral retina resulting in tunnel vision
2
Q
what are the features of retinitis pigmentosa?
A
- night blindness (initial sign)
- tunnel/funnel vision (due to loss of peripheral retina)
- fundoscopy: black bone spicule-shaped pigmentation in peripheral retina, mottling of retinal pigment epithelium
3
Q
what are the associated diseases with retinitis pigmentosa?
A
- Refsum disease: cerebellar ataxia, peripheral neuropathy, deafness, ichthyosis
- Usher syndrome
- abetalipoproteinemia
- Lawrence-Moon-Biedl syndrome
- Kearns-Sayre syndrome
- Alport’s syndrome
