Table 3 of
Siemiatkowska, Mol Vis 2014; 20:753-759. Table 3 of
Siemiatkowska, Mol Vis 2014; 20:753-759.
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 |