Table 7: Association of EYS, PROM1, and CRB1 in retinal dystrophies.

EYS PROM1CRB1 Diagnosis

c.768A>G (p.I256M)c.1738A>C (p.N580H)c.2306G>A (p.R769H) adRP
c.4957_4958insA c.1738A>C (p.N580H)c.2306G>A (p.R769H) adRP
c.1450G>A (p.G484R)n.d.c.2306G>A (p.R769H) adRP
c.8868C>A (p.Y2956*)n.d.c.2306G>A (p.R769H) adRP
c.4963T>A (p.L1655M)n.d.c.2306G>A (p.R769H) arRP

n.d.n.d.c.2306G>A (p.R769H) (Normal)

12 patients with RP were examined.
*Truncating and nonsense variants.
adRP indicates likely autosomal dominant retinitis pigmentosa.
n.d. indicates not detected.