From: ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings
Reference | Age at evaluation | Clinical findings |
---|---|---|
Korner [2] | 5 y | Coloboma of the iris, optic nerve atrophy |
Denecke [4] | 6 y | Rotational and horizontal nystagmus; unable to fixate, recognize objects, pupillary light reflex present, reduced amplitudes on ERG (at 6 m) |
Pregnancy (19 w) | NR | |
Schollen [5] | 4 y | Blindness, optic nerve atrophy |
Sun [6] | Shortly after birth (36 w) | Bilateral optic nerve atrophy; abnormal pupillary light reflex |
Kranz [7] | 9 y | Cortical blindness, strabismus, decreased amplitudes of both rods and cones on ERG |
7 y | Strabismus, deposition of abnormal metabolic products in conjunctiva possibly indicating retinal involvement, decreased amplitudes of both rods and cones on ERG | |
Rimella-Le-Huu [8] | 15 m | Poor visual contact; latent nystagmus; hypopigmentation of the retina, optic nerve atrophy |
Riess [9] | 15 y | Cortical visual impairment, divergent strabismus, myopia, mild optic nerve atrophy, normal retina, no cataracts, no nystagmus. |
21 y | Cortical visual impairment, strabismus, horizontal nystagmus, mild optic nerve atrophy, normal retina, no cataracts | |
Lepais [10] | MTP (25 w) | Ocular proptosis, corneal opacities |
Shortly after birth (36 w) | Bilateral congenital cataract | |
Fiumara [11] | 2 y | Initial signs of chorioretinal dystrophy, i.e., optic nerve atrophy |
Barba [12] | 5 y | Poor eye contact |
6 y | Poor eye contact | |
Alsubhi [13] | Neonatal | NR |
Neonatal | NR | |
Neonatal | NR | |
Neonatal | NR | |
Neonatal | NR | |
Neonatal | NR | |
Neonatal | NR | |
Himmelreich [14] | 2 m | Descending eyelid axes, not evident fixation |
2 m | Descending eyelid axes | |
3 y | NR | |
16 m | Horizontal nystagmus and difficult fixation (noted at 3.5 m), on MRI (at 11 m) hypogenesis of the anterior optic pathways (optic nerve and chiasma), small papillae (at 11 m), able to see smaller objects | |
Bian [15] | MTP (28 w) | Eyelid ptosis |
MTP (22 w) | NR | |
Paketci [16] | 4.5 m | Poor eye contact, deviations in the eyes |
2 m | Poor eye contact | |
Ferrer [17] | Fetal demise (24 4/7 w) | NR |
Stillbirth (30 1/7 w) | NR | |
Alsharhan [18] | 17 y | Strabismus, myopia, thick eyebrows and eyelashes |
5 y | Optic nerve atrophy, epicanthal folds, long eyelashes, telecanthus | |
2 y | Epicanthal folds, cortical blindness, small optic nerves chiasm and tracks | |
7 y | Strabismus, myopia, impaired visual awareness | |
Stillbirth | Down-slanting palpebral fissures | |
1 y | Optic nerve atrophy | |
30 y | Strabismus, epicanthal folds | |
38 y | Down-slanting palpebral fissures | |
36 y | Not detected | |
Neonatal | NR | |
Current study | 23 m | Poor fixation, down-slanting palpebral fissures, hypopigmented fundus, retinal ganglion cell loss, optic nerve hypoplasia |