This 75 year old man has noticed a gradual reduction in his peripheral vision in the past few years. He has a 4 generation history of autosomal dominant ataxia. When this patient was seen it was unclear if the other ataxic individuals also had retinal disease, that is, the ataxia was earlier onset and more severe than the vision loss and was therefore less noteworthy in the family. This patient is interesting because he claims to be able to see stars and have no difficulty in movie theaters. which illustrates the difficulty establishing night blindness by history alone.
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
Retinitis Pigmentosa with Ataxia | ELOVL4 | Ile171Thr ATT>ACT | AD |