Table 3. Clinical characteristics of patients with two NMNAT1 variants.
| Patient ID | 1 | 2 | 3.1 | 3.2 | 4 | 5 | 6 |
|---|---|---|---|---|---|---|---|
| Age |
23 |
25 |
7 |
2 |
64 |
16 |
72 |
| Variants |
c.53A>G (p.N18S) |
c.769G>A (p.E257K) |
c.769G>A (p.E257K) |
c.769G>A (p.E257K) |
c.769G>A (p.E257K) |
c.769G>A (p.E257K) |
c.769G>A (p.E257K) |
| c.472G>C (p.D158H) |
c.253T>C (p.W85R) |
c.617A>G (p.H206A) |
c.617A>G (p.H206A) |
c.595G>T (p.E199*) |
c.731T>C (p.V244A) |
c.619C>T (p.R207W) |
|
| Gender |
M |
F |
M |
F |
M |
F |
M |
| Origin |
German / French |
German |
Dutch |
Dutch |
Danish |
German |
Dutch |
| Age at diagnosis |
~4 months |
~6 months |
~6 months |
~4 months |
~12 months |
~18 months |
1-8 years* |
| Refraction |
RE: S+7.0 |
NP |
RE: S+4.0=C-2.25 |
RE: S+8.50=C-4.0 |
NP |
RE: S-0.25 |
NP |
| LE: S+7.5 |
LE: S+4.0=C-1.0 |
LE: S+8.50=C-4.0 |
LE: S-0.25 |
||||
| Visual acuity |
Light perception |
Light perception |
2/60 |
Light perception |
No light perception |
Light perception |
RE: Light perception LE: Hand movements |
| Macular atrophy |
Present |
Present |
Present |
Present |
Absent |
Present |
Panretinal chorioretinal atrophy |
| Funduscopy |
Peripheral pigmentation |
Macular pseudocoloboma, large atrophic optic discs, attenuated vessels, RPE-atrophy and mild pigmentary changes in periphery |
Macular pseudocoloboma with hyperpigmented border, pink optic discs, subtle RPE changes in periphery |
Abnormal pigmentation of the macula at diagnosis, RPE changes in periphery; macular atrophy at age 2 |
Temporal parapapillary chorioretinal lacunar atrophies, heavy pigmentations in periphery |
Periphery normal |
Pallor of the optic disc, severely attenuated vessels, abundant pigmentations in midperiphery and macula |
| Full field ERG |
Non-detectable (7 years) |
Non-detectable |
Non-detectable (6 months) |
NP |
NP |
Non-detectable (2 years) |
Non-detectable (31 years ) |
| Remarks | Subcapsular cataract LE>RE | None | None | None | Keratoconus in both eyes, RE enucleated due to corneal pain | None | RE: aphakia and corneal edema after cataract extraction LE: IOL |
ERG, electroretinography; F, female; IOL, intraocular lens; LE, left eye; M, male; NP, not performed; RE, right eye; RPE, retinal pigment epithelium; * the accurate time of diagnosis could not be established. Individuals 3.1 and 3.2 are siblings.