Table 1.

Summary of the Genotype and Clinical Phenotype of Subjects with Blue Cone Monochromacy

Family	Subject	Age (yrs)	Disease-Causing Variant	Eye	OCT Grade	Foveal Hypoplasia
F1	JC_0078	27	LCR deletion	OS	III	No
F2	MM_0223	13	LCR deletion	OS	II	Yes
F3	JC_0611	34	LCR deletion	OD	III	Yes
F4	JC_0613	14	LCR deletion	OD	II	No
F5: IV-1	JC_0909†	7	LCR deletion	OS	II	Yes
F5: III-4	JC_0911†	41	LCR deletion	OD	II	No
F5: II-8	JC_0912†	58	LCR deletion	OS	IV	No
F6	KS_10992	25	LCR deletion	OD	II	No
F7	JC_11033	53	LCR deletion	OS	III	No
F8	JC_11230	8	LCR deletion	OS	II	Yes
F9: IV-3	JC_11237†	6	LCR deletion	OD	II	Yes
F9: II-1	JC_11239†	75	LCR deletion	OS	III	No
F9: III-8	JC_11266†	35	LCR deletion	OS	II	No
F10	MM_0151	54	MC203R	OD	V	No
F11	MM_0177	10	MC203R	OD	I	No
F12	JC_0183∗	24	MC203R	OD	II	No
F12	JC_0184∗	21	MC203R	OS	II	No
F13	MM_0187	21	MC203R	OD	I	Yes
F14	MM_0235	16	MC203R	OD	II	No
F15	JC_11532∗	49	MC203R	OS	II	No
F15	JC_11585∗	54	MC203R	OS	IV	No
F16: IV-1	JC_10066†	24	LC203R-LC203R	OS	II	No
F16: IV-3	JC_10067†	13	LC203R-LC203R	OD	II	No
F16: III-7	MP_10100†	35	LC203R-LC203R	OS	II	No
F17: IV-7	MP_10097†	43	LC203R-MC203R	OS	II	Yes
F17: V-2	MP_10116†	10	LC203R-MC203R‡	OS	I	Yes
F18	MM_0186	11	MC203R-MC203R	OD	II	No
F19	JC_0440∗	18	MC203R-MC203R	OD	II	Yes
F19	JC_0441∗	18	MC203R-MC203R	OS	II	No
F20	JC_10557∗	16	MC203R-MC203R	OS	IV	No
F20	JC_10558∗	16	MC203R-MC203R	OD	II	Yes
F21	JC_10561	50	MC203R-MC203R	OS	IV	Yes
F22	JC_11919	20	MC203R-MC203R	OD	I	No

C203R = Cys203Arg; LCR = locus control region; OD = right eye; OS = left eye.

For simplicity, only the first 2 genes within the OPN1LW/OPN1MW array are reported.

^∗The following are brothers: JC_0183 and JC_0184; JC_11532 and JC_11585; JC_0440 and JC_0441; JC_10557 and JC_10558.

^†Pedigrees shown in Supplemental Figure 1 (available at www.ophthalmologyscience.org).

^‡Genotype inferred from MP_10097.