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. Author manuscript; available in PMC: 2017 Jan 1.
Published in final edited form as: Ophthalmology. 2015 Oct 24;123(1):9–18. doi: 10.1016/j.ophtha.2015.10.006

Table 1.

Family Previously Published
Family ID (reference)		 Haplotype Variant
#		 HG19
Chromosomal
Location		 Nucleotide
Change		 #
Affected		 #
Unaffected		 Total Samples
A
graphic file with name nihms730563t1.jpg 		765 (11–14,24,40–45) North Carolina V1 Chr6_100040906 G>T 51 22 73
B
graphic file with name nihms730563t2.jpg 		702 (45) North Carolina V1 Chr6_100040906 G>T 4 5 9
C
graphic file with name nihms730563t3.jpg 		768 (17,24,45) North Carolina V1 Chr6_100040906 G>T 1 1 2
D
graphic file with name nihms730563t4.jpg 		772 (24,45) North Carolina V1 Chr6_100040906 G>T 4 0 4
E
graphic file with name nihms730563t5.jpg 		1193 (24,45) North Carolina V1 Chr6_100040906 G>T 3 0 3
F
graphic file with name nihms730563t6.jpg 		1292 (24,45) N/A V1 Chr6_100040906 G>T 2 1 3
G
graphic file with name nihms730563t7.jpg 		769 (16,24,45) French V2 Chr6_100040987 G>C 1 0 1
H
graphic file with name nihms730563t8.jpg 		718 (45) N/A V2 Chr6_100040987 G>C 1 0 1
I
graphic file with name nihms730563t9.jpg 		1574 N/A V2 Chr6_100040987 G>C 11 5 16
J
graphic file with name nihms730563t10.jpg 		709 (45) N/A V3 Chr6_100041040 C>T 2 0 2
K
graphic file with name nihms730563t11.jpg 		1463 (19,45) Belize V4 Chr6_100020205-100143306 123101bp Tandem Duplication 11 4 15
L
graphic file with name nihms730563t12.jpg 		MCDR3 (22) Danish V5 Chr5_3587901-4486027 898126bp Tandem Duplication 11 1 12
102 39 141

Mutations in the promoter of the PRDM13 gene cause North Carolina Macular Dystrophy and suggest that this retinal transcription factor is an important regulator of human macular development.