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 |