Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations

Table 7

Association of EYS, PROM1, and CRB1 in retinal dystrophies.

EYS	PROM1	CRB1	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.