Table 1 Clinical characteristics and genetic variants identified in VKH patients
Patient ID | Age/Sex | Age at onset | Vitamin D level | Clinical description | Variant identified |
|---|---|---|---|---|---|
VKH1 | 40–45/M | 40–45 (A) | 14.4 ng/mL | De-pigmented fundus OU, Keratoconus OU, Diffuse vitiligo, Poor improvement of VA on treatment | CYP24A1 (g. 632 T > G; c.234 T > G) VDR (g.63937 T > C; p.1Met?, g.65058 T > C; c.1056 T > C) |
VKH2 | 16–20/M | 16–20 (C) | 16 ng/mL | De-pigmented fundus OU, Vertigo, Tinnitus, Improved VA on treatment | VDR (g.63937 T > C; p.1Met?) CYP2R1 (c.852G > A; p.284 M > I) |
VKH3 | 10–15/F | 6–10 (A) | 23 ng/mL | De-pigmented fundus OU, Band keratopathy, Vertigo, Tinnitus, Maintained VA, Vitiligo, Poliosis | CYP27B1 (g.2989C > T) VDR (g.63937 T > C; p.1Met?, g.64978 G > T; -49 int 9G > T) |
VKH4 | 16–20/M | 17 (A) | 13 ng/mL | De-pigmented fundus OU, CNVM, Vertigo, Tinnitus, Decrease hearing, Improved VA on treatment | CYP27B1 (g.2989C > T) VDR (g.64978 G > T; -49 int 9G > T) |
VKH5 | 30–35/M | 30–35 (A) | 17 ng/mL | De-pigmented fundus OU, Improved VA on treatment | CYP24A1 (g.512G > T; c.114G > T, g. 632 T > G; c.234 T > G, g.821C > T) |
VKH6 | 46–50/F | 36–40 (A) | 14 ng/mL | De-pigmented fundus OU, Peripheral Anterior Synechea, Improved VA on treatment, Vitiligo | CYP2R1 (c.852G > A; p.284 M > I) CYP24A1 (g.821C > T) |
VKH7 | 20–25/F | 20–25 (A) | 22 ng/mL | De-pigmented fundus OU, Cataract, Improved VA on treatment | VDR (g.63937 T > C; p.1Met?) |
VKH8 | 56–60/F | 56–60 (C) | 26 ng/mL | De-pigmented fundus OU, Improved VA on treatment | CYP2R1 (c.852G > A; p.284 M > I) |
VKH9 | 30–35/F | 30–35 (A) | 16 ng/mL | De-pigmented fundus OU, Improved VA on treatment, Alopecia, Vitiligo | CYP24A1 (g.512G > T; c.114G > T) |
VKH10 | 50–55/M | 50–55 (A) | 11 ng/mL | De-pigmented fundus OU, Cataract, Improved VA on treatment | CYP24A1 (g. 632 T > G; c.234 T > G) |
VKH11 | 16–20/F | 16–20 (A) | 15 ng/mL | De-pigmented fundus OU, Improved VA on treatment | CYP2R1 (c.852G > A; p.284 M > I) VDR (g.63937 T > C; p.1Met?) |
VKH12 | 36–40/M | 36–40 (Acute) | 24 ng/mL | De-pigmented fundus OU, Improved VA on treatment | CYP27B1 (g.2989C > T) |
VKH13 | 56–60/F | 56–60 (A) | 22 ng/mL | De-pigmented fundus OU, Improved VA on treatment | CYP24A1 (g.512G > T; c.114G > T, g.2989C > T) |
VKH14 | 40–45/F | 30–35 (A) | 25 ng/mL | De-pigmented fundus OU, Improved VA on treatment, Alopecia, Vitiligo | VDR (g.65058 T > C; c.1056 T > C) |
VKH15 | 16–20/F | 10–15 (A) | 13 ng/mL | De-pigmented fundus OU, Improved VA on treatment, Alopecia, Vitiligo, Poliosis | VDR (g.63937 T > C; p.1Met?) |
VKH16 | 30–35/F | 10–15 (A) | 12 ng/mL | De-pigmented fundus OU, Improved VA on treatment, Vitiligo | CYP24A1 (g.2989C > T) |
VKH17 | 20–25/M | 16–20 (A) | 17 ng/mL | De-pigmented fundus OU, Peripheral Anterior Synechea, Improved VA on treatment, Vitiligo | VDR (g.64978 G > T;–49 int 9G > T) CYP24A1 (g.2989C > T) |
VKH18 | 30–35/M | 30–35 (A) | 25 ng/mL | De-pigmented fundus OU, Keratoconus OU, Diffuse vitiligo, Poor improvement of VA on treatment | CYP2R1 (c.852G > A; p.284 M > I) CYP24A1 (g.2989C > T) |
VKH19 | 40–46/M | 36–40 (A) | 17 ng/mL | De-pigmented fundus OU, Band keratopathy, Vertigo, Tinnitus, Maintained VA, Vitiligo, Poliosis | CYP2R1 (c.852G > A; p.284 M > I) CYP24A1 (g.512G > T; c.114G > T, g.2989C > T) |
VKH20 | 20–25/F | 20–25 (A) | 13 ng/mL | De-pigmented fundus OU, Cataract, Improved VA on treatment | VDR (g.64978 G > T;–49 int 9G > T) |
VKH21 | 50–55/M | 46–50 (C) | 26 ng/mL | De-pigmented fundus OU, Peripheral Anterior Synechea | CYP24A1 (g.2989C > T) |
VKH22 | 30–35/F | 30–35 (A) | 12 ng/mL | De-pigmented fundus OU, Improved VA on treatment, Alopecia, Vitiligo | CYP2R1 (c.852G > A; p.284 M > I) VDR (g.64978 G > T;–49 int 9G > T) |
VKH23 | 16–20/F | 16–20 (A) | 17 ng/mL | De-pigmented fundus OU, Cataract, Improved VA on treatment | CYP27B1 (g.2989C > T) |
VKH24 | 30–35/F | 30–35 (A) | 23 ng/mL | De-pigmented fundus OU, Improved VA on treatment, Alopecia, Vitiligo | CYP2R1 (c.852G > A; p.284 M > I) |
VKH25 | 46–50/F | 36–40 (A) | 27 ng/mL | De-pigmented fundus OU | CYP2R1 (c.852G > A; p.284 M > I) |
VKH26 | 40–45/M | 36–40 (C) | 12 ng/mL | De-pigmented fundus OU, Peripheral Anterior Synechea, Improved VA on treatment, Vitiligo | VDR (g.63937 T > C; p.1Met?) CYP2R1 (c.852G > A; p.284 M > I) |
VKH27 | 56–60/M | 50–55 (C) | 16 ng/mL | De-pigmented fundus OU | CYP27B1 (g.2989C > T) |
VKH28 | 26–30/F | 26–30 (A) | 25 ng/mL | De-pigmented fundus OU, Cataract, Improved VA on treatment | CYP24A1 (g.512G > T; c.114G > T) |
VKH29 | 40–45/F | 40–45 (C) | 14 ng/mL | De-pigmented fundus OU, Improved VA on treatment, Alopecia, Vitiligo | CYP27B1 (g.2989C > T) |
VKH30 | 50–55/M | 26–30 (A) | 25 ng/mL | De-pigmented fundus OU, Keratoconus OU, Diffuse vitiligo, Poor improvement of VA on treatment | CYP2R1 (c.852G > A; p.284 M > I) VDR (g.63937 T > C; p.1Met?) |
VKH31 | 26–30/F | 20–25 (A) | 15 ng/mL | De-pigmented fundus OU, Improved VA on treatment | CYP2R1 (c.852G > A; p.284 M > I) VDR (g.63937 T > C; p.1Met?) |
VKH32 | 40–45/F | 16–20 (A) | 27 ng/mL | De-pigmented fundus OU | CYP2R1 (c.852G > A; p.284 M > I) |
VKH33 | 40–45/M | 36–40 (C) | 12 ng/mL | De-pigmented fundus OU, Peripheral Anterior Synechea, Improved VA on treatment, Vitiligo | CYP2R1 (c.852G > A; p.284 M > I) VDR (g.63937 T > C; p.1Met?) |
VKH34 | 50–55/M | 50–55 (C) | 16 ng/mL | De-pigmented fundus OU | CYP27B1 (g.2989C > T) |
VKH35 | 26–30/F | 20–25 (A) | 25 ng/mL | De-pigmented fundus OU, Cataract, Improved VA on treatment | CYP24A1 (g.512G > T; c.114G > T) |
VKH36 | 40–45/F | 40–45 (C) | 14 ng/mL | De-pigmented fundus OU, Improved VA on treatment, Alopecia, Vitiligo | CYP27B1 (g.2989C > T) |
VKH37 | 26–30/F | 20–25 (A) | 15 ng/mL | De-pigmented fundus OU, Improved VA on treatment | CYP2R1 (c.852G > A; p.284 M > I) VDR (g.63937 T > C; p.1Met?) |
VKH38 | 40–45/F | 26–30 (A) | 27 ng/mL | De-pigmented fundus OU | CYP2R1 (c.852G > A; p.284 M > I) |
VKH39 | 46–50/F | 26–30 (C) | 26 ng/mL | De-pigmented fundus OU, Improved VA on treatment | CYP2R1 (c.852G > A; p.284 M > I) |