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