Table 1.
Manifestations of RVCL-S TREX1 mutation carriers for all mutation carriers and all MC+, which in addition have been split in all living MC+ and all deceased MC+
| All MC | All MC+ | Living MC+ | Deceased MC+ | |
|---|---|---|---|---|
| Demographics | ||||
| Mutation carriers (n) | 78 | 65 | 30 | 35 |
| Age at diagnosis of retinopathy | ||||
| Mean ± SD (years) | 42.5 ± 8.1 | 42.5 ± 8.1 | 41.2 ± 8.4 | 43.7 ± 7.7 |
| Range (yeas) | 25–61 | 25–61 | 25–61 | 30–61 |
| Age at last follow-up | ||||
| Mean ± SD (years) | NA | NA | 47.3 ± 8.1 | NA |
| Range (years) | NA | NA | 34–62 | NA |
| Age at death | ||||
| Mean ± SD (years) | NA | NA | NA | 53.1 ± 9.6 |
| Range (years) | NA | NA | NA | 32–72 |
| Survival time from onset (years) | ||||
| Mean ± SD (years) | NA | NA | NA | 9.1 ± 6.7 |
| Range (years) | NA | NA | NA | <1–26 |
| Major featuresa | ||||
| Retinopathyb | 84 (64/76) | 100 (64/64) | 100 (30/30) | 100 (34/34) |
| Cerebral features | ||||
| Focal brain featuresc | 56 (40/72) | 68 (40/59) | 40 (12/30) | 97 (28/29) |
| Cognitive impairmentd | 47 (33/70) | 56 (32/57) | 38 (11/29) | 75 (21/28) |
| Psychiatric diseasee | 39 (29/75) | 42 (26/62) | 31 (9/29) | 52 (17/33) |
| Seizuresf | 14 (9/66) | 17 (9/54) | 7 (2/27) | 26 (7/27) |
| Neuroimaging evidence of white matter disease | ||||
| Rim-enhancing mass lesionsg | 71 (36/51) | 84 (36/43) | 75 (15/20) | 91 (21/23)i |
| Punctate non-enhancing and/or nodular contrast-enhancing lesionsj | 92 (35/38) | 97 (34/35) | 95 (18/19)h | 100 (16/16) |
| Calcifications on CT | 52 (14/27) | 52 (14/27) | 71 (5/7) | 45 (9/20) |
| Other commonly found features | ||||
| Liver diseasek | 70 (28/40) | 70 (28/40) | 65 (11/17) | 74 (17/23) |
| Kidney diseasek | 49 (22/45) | 50 (22/44) | 50 (9/18) | 50 (13/26) |
| Hypertension | 58 (30/52) | 60 (30/50) | 47 (9/19) | 68 (21/31) |
| Anaemia | 74 (25/34) | 74 (25/34) | 67 (8/12) | 77 (17/22) |
| Gastrointestinal bleedingl | 22 (9/77) | 27 (9/64) | 3 (1/30) | 24 (8/34) |
| Migraine with or without aura | 53 (28/53) | 59 (24/41) | 48 (12/25) | 75 (12/16) |
| Raynaud’s phenomenon (mild) | 42 (31/73) | 40 (24/60) | 52 (14/27) | 30 (10/33) |
aUnless indicated otherwise, the disease manifestations presented in the table are shown as percentage of subjects followed by the number of subjects. The denominator varies according to the number of individuals with available data.
bOne MC+ with unknown retinopathy status.
Cerebral features included:.
cProgressive focal neurological abnormalities such as hemiparesis, facial weakness, aphasia, hemianopia, hemisensory deficit, frontal release signs.
dCognitive impairment with bradyphrenia, apathy, irritability, and impaired memory and judgement.
eDepression, anxiety, and other psychiatric disturbances.
fSeizures.
gRim-enhancing mass lesions are defined as T2 hyperintense mass lesions with rim-enhancement, mass effect and surrounding oedema.
h One subject with no evidence of white matter hyperintensities had only one MRI, which was done within 1 year of diagnosis with retinopathy.
iFive patients were excluded as the last neuroimaging available was more than 5 years before their death.
jBased on MRI scans only.
kBased on laboratory values.
lOne of the patients had progressive gastrointestinal bleeding that led to subtotal colectomy but the others were intermittent. Two patients also had gastric or duodenal ulcers and one had the progressive colonic ulcerations associated with bleeding. Two patients had telangiectasias in the colon.
NA = not applicable.