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Table 1 Summary of ocular and vision-related findings in patients with ALG3-CDG

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

  1. ERG electroretinography, MRI magnetic resonance imaging, MTP medical termination of pregnancy, NR not reported, m months, w weeks, y years
  2. Ocular features reported including negative findings as provided in the original reports are shown. In most patients detailed ophthalmic examination has not been reported thus the presence of other phenotypes cannot be excluded
  3. Ophthalmic examination in patients reported by Alsharhan [19] was assumed to be done at the same time as Nijmegen Pediatric CDG Rating Scale evaluation