PRPF3-Associated Autosomal Dominant Retinitis Pigmentosa and CYP4V2-Associated Bietti’s Crystalline Corneoretinal Dystrophy Coexist in a Multigenerational Chinese Family

Table 1

Demographic and clinical features and genotypes of PRPF3 and CYP4V2 mutations in a family with adRP and arBCD.

Number	Gender	Age	First symptom	Phenotype	BCVA		Eye complications	Systemic diseases	PRPF3 mutation	CYP4V2 mutations
					OD	OS			c.1481C>G	c.802-8_810del17insGC	c.992A>C
III:8	Female	76	None	Normal	20/250	20/250	Cataract		ND	ND	ND
III:9	Male	80	Night blindness	RP	LP	LP	Cataract		MT	Wild	Wild
III:10	Female	80	None	Normal	20/50	20/50	Cataract		ND	ND	ND
IV:1	Female	82	Night blindness	RP	LP	LP	Cataract		MT	Wild	Wild
IV:3	Male	57	Night blindness	RP	LP	LP	Cataract		ND	Wild	Wild
IV:5	Male	57	Night blindness	RP	LP	LP	Cataract		ND	ND	ND
IV:6	Male	57	Night blindness	RP	LP	LP	Cataract		MT	Wild	Wild
IV:7	Female	54	None	Normal	20/30	20/30	None		Wild	Wild	Wild
IV:10	Male	39	Night blindness	RP	20/200	20/200	None		MT	Wild	Wild
IV:12	Male	35	Night blindness	RP	20/400	LP	None		ND	Wild	Wild
IV:14	Male	55	Night blindness	RP	20/100	20/200	Cataract		MT	Wild	Wild
IV:15	Female	50	None	Normal	20/35	20/35	None		ND	ND	ND
IV:16	Female	51	None	Normal	20/35	20/20	None		ND	ND	ND
IV:18	Male	49	None	Normal	20/20	20/20	None		ND	ND	ND
IV:20	Male	45	Night blindness	RP	20/100	20/200	None		MT	Wild	Wild
V:1	Female	57	None	Normal	20/20	20/25	None	Breast cancer	ND	MT	Wild
V:2	Male	60	None	Normal	20/30	20/30	Cataract	Fatty liver disease	ND	Wild	MT
V:3	Female	55	Night blindness	RP	20/10	20/200	None	Breast cancer	MT	Wild	Wild
V:7	Male	45	None	Normal	20/30	20/30	Myopia		Wild	Wild	Wild
V:8	Female	46	None	Normal	20/18	20/18	None		Wild	Wild	Wild
V:9	Male	43	Night blindness	RP	20/200	LP	Myopia		MT	Wild	Wild
V:11	Male	24	None	Normal	20/18	20/18	None		Wild	Wild	Wild
V:12	Male	22	Night blindness	RP	20/100	20/100	Myopia		MT	Wild	Wild
V:13	Male	13	None	Normal	20/30	20/20	None		ND	Wild	Wild
V:15	Female	8	None	Normal	20/20	20/20	None		ND	Wild	Wild
V:17	Male	37	None	Normal	20/25	20/25	None		ND	Wild	Wild
V:18	Female	35	None	Normal	20/18	20/18	High myopia		ND	ND	ND
V:19	Female	35	None	Normal	20/25	20/20	Myopia		ND	ND	ND
V:20	Male	33	None	Normal	20/18	20/18	None		Wild	Wild	Wild
V:31	Male	15	None	Normal	20/18	20/18	Myopia		ND	ND	ND
VI:1	Male	33	Decreased vision	BCD	20/25	20/30	Myopia, uveitis		Wild	MT	MT
VI:2	Female	29	None	Normal	20/40	20/50	High myopia		ND	ND	ND
VI:10	Female	22	None	Normal	20/18	20/18	Myopia		ND	Wild	Wild
VI:12	Male	15	None	Normal	20/20	20/20	None		ND	Wild	Wild
VI:14	Male	13	None	Normal	20/20	20/20	None		ND	Wild	Wild
VI:15	Male	10	None	Normal	20/20	20/20	None		ND	Wild	Wild
VI:16	Male	9	None	Normal	20/20	20/20	None		ND	Wild	Wild
VII:1	Male	5	None	Normal	20/30	20/30	None		ND	MT	Wild
VII:2	Female	1	None	Normal	20/30	20/200	Hyperopia		ND	Wild	Wild

MT: mutation; ND: not detected; LP: light perception; NLP: nonlight perception.