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RETINITIS PIGMENTOSA 79 (RP79)

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