Table 1 of Pereiro, Mol Vis 2010; 16:137-143.
Patient |
Retinitis pigmentosa | Polydactyly |
Obesity |
Mental delay |
Other |
|||
---|---|---|---|---|---|---|---|---|
NB (onset) |
Reduced visual acuity |
Reduced visual field |
Fundus and ERG |
|||||
M446 II.1 | 5 yo | 22 yo | yes | abolished | - | +/− | - | Dysmorphic facial features |
M446 II.2 | 5 yo | CF | yes | abolished | + (feet) | + | - | Hearing loss |
M79 II.2 | 3 yo | 6 years (20°) | ND | abolished (at 12 yo) | + | + | + | |
B17 II.1 | yes | ND | abolished | + (left hand) | + | + | Renal insufficiency, arterial hypertension | |
M250 II.3 | infancy | 20 yo | ND | ND | + (left foot) | + | + | Hypogonadism |
M250 II.6 | 15 yo | 20 yo | ND | ND | + | + | + | Hypogonadism, photophobia, myopia |
RP1011 II.1 | 9 yo | 9 yo | 1/8 1/10 | Spicular pigment scotomae | + | + | +/− | Psychomotor delay, photophobia |
M496 II.1 | 20 yo | reduced | yes | ND | + | - | - | Hirschprung disease |
M523 II.1 | yes | reduced | yes | ND | + | + | + | |
M523 II.2 | yes | reduced | yes | ND | - | + | - | |
RP329 II.2 | yes | reduced | yes | ND | - | + | + | Photophobia, psychomotor and developmental delay |