| RETINITIS PIGMENTOSA 79 (RP79) | |
| adRP; HK1 | |
|
617460
OMIM = Online Mendelian Inheritance of Men | |
|
791 | |
| Hexokinase-1 | |
| 2.7.1.1 | |
| 10q22.1 |
|
| H35.5 | |
very rare autosomal dominant mutation in the HK1 gene | |
| Laboratory findings | no metabolic abnormalities () |
| Symptoms | impaired visual acuity maculopathy night blindness onset, adolescent onset, childhood photophobia or photosensitive defect in light-exposed area |