Table 2.

comparison of phonotypical features (bone spicules, loss of pigmentation, SW-AF rings and CME) in different imaging modalities with the inheritance pattern for every patient. AR, autosomal recessive; AD, autosomal dominant; XL, X-linked inheritance pattern. CME, cystoid macular edema.

Patient	Inheritance pattern	Bone spicules (Color/NIR-R.)	Loss of pigmentation			Rings				CME
		Color/NIR-R	Color/NIR-R	SW-AF (hypo- AF)	OCT (RPE loss)	SW-AF	SW-AF (inner/outer border)	NIR-AF (inner/outer border)	NIR-AF (outer border only)	OCT
1	AR		✓	✓		✓	✓	✓
2	AR		✓	✓	✓	✓	✓	✓
3	AR		✓			✓	✓	✓		✓
4	AR		✓	✓	✓	✓	✓		✓
5	AD	✓	✓	✓	✓	✓	✓		✓
6	AR		✓			✓	✓	✓
7	AR	✓	✓	✓	✓	✓	✓		✓
8	AD	✓	✓	✓	✓	✓	✓		✓
9	AR		✓			✓	✓		✓
10	AR		✓			✓	✓		✓
11	AD		✓	✓	✓	✓	✓		✓	✓
12	AD	✓	✓	✓	✓	✓	✓		✓	✓
13	AR		✓			✓	✓	✓
14	AR	✓	✓	✓	✓	✓	✓	✓
15	AR		✓	✓		✓
16	AD		✓	✓		✓	✓	✓
17	AR	✓	✓			✓			✓
18	AD	✓	✓	✓	✓	✓	✓	✓
19	AR		✓	✓	✓	✓	✓		✓
20	AR	✓	✓	✓	✓	✓	✓	✓		✓
21	AD	✓	✓	✓	✓	✓	✓		✓
22	AR	✓	✓	✓	✓	✓	✓		✓
23	AR		✓	✓	✓	✓	✓		✓
24	AD		✓	✓	✓	✓	✓		✓
25	AD		✓	✓	✓	✓	✓		✓
26	AD		✓	✓	✓	✓	✓	✓		✓
27	unknown		✓	✓	✓	✓	✓		✓	✓
28	AD		✓	✓	✓	✓	✓	✓
29	XL	✓	✓	✓	✓	✓	✓		✓
30	XL		✓		✓	✓		✓
31	AD		✓	✓	✓	✓	✓	✓
32	AR		✓			✓	✓		✓
33	AR	✓	✓	✓	✓	✓	✓	✓
34	unknown	✓	✓	✓	✓	✓				✓
35	AR		✓	✓		✓	✓	✓
36	AR	✓	✓	✓	✓
37	AR	✓	✓	✓	✓	✓	✓		✓
38	XL		✓	✓	✓	✓	✓		✓
39	AR		✓	✓	✓
40	AD		✓	✓	✓	✓	✓	✓
41	AD		✓			✓	✓	✓
42	AD	✓	✓
43	AR	✓	✓	✓	✓
44	XL	✓	✓	✓	✓
45	AR		✓	✓		✓	✓	✓
46	AR	✓	✓	✓	✓					✓
47	AR	✓	✓	✓	✓	✓	✓	✓
48	AD	✓	✓	✓	✓
49	AD	✓	✓	✓	✓	✓	✓	✓		✓
50	AR	✓	✓	✓	✓
51	AD		✓			✓	✓	✓		✓
52	AR		✓	✓	✓
53	unknown		✓			✓	✓	✓
54	AR		✓	✓	✓	✓	✓	✓		✓
55	AR	✓	✓	✓		✓	✓	✓
56	unknown		✓			✓	✓		✓
57	AR	✓	✓	✓	✓	✓	✓	✓
58	AD	✓	✓	✓	✓	✓	✓	✓
59	unknown		✓			✓	✓		✓
60	AD	✓	✓	✓	✓	✓	✓