Retina
Key Mutations
Key Mutations
This is a list of most important mutations discussed in this chapter.
| Disease | Gene Mutation | Encoded Protein |
|---|---|---|
| Fundus Albipunctatus | RDH5 | 11-cis retinol dehydrogenase |
| Retinitis Punctata Albescens | RLBP1 | Retinaldehyde-binding protein |
| Oguchi Disease | SAG/ GRK1 | Arrestin/ Rhodopsin kinase |
Practise Test
A patient presents with nyctalopia since childhood. Visual acuity and color vision are normal. Fundus examination reveals white–yellow dots throughout the retina except for the fovea. ERG demonstrates an abnormal rod response that returns to normal after prolonged dark adaptation. Which gene mutation is most likely?
Explanation
RDH5 encodes 11-cis retinol dehydrogenase and is associated with fundus albipunctatus.