Table 2.
Clinical data of Gaucher type 3 patients
| ID | Phenotype severity | Genotype | Age | Disease duration | SARA | IQ | Adjusted mSST |
Motility (smooth pursuit) |
Cover Test | Ocular findings |
Horizontal verlocity (e.g. 30° rightwards) |
Vertical velocity (e.g. 20° upwards) | logMAR visual acuity (right eye) | logMAR visual acuity (left eye) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Mild | L444P/ D409H | 8 | 7 | 0 | 100 | 0 | Full, synkinetic blinking, head thrust | Normal | Normal | 22 | 337 | 0 | 0 |
| 2 | Mild | L444P/ D409H | 21 | 12 | 0 | 100 | 0.5 | Full, synkinetic blinking, head thrust | Normal | Epiretinal particles on the ILM and posterior hyaloid, partially detached - > normal | 46 | 293 | 0 | 0 |
| 3 | Mild | L444P/ D409H | 22 | 15 | 2 | 85 | 0.5 | Full | Normal | Normal | 57 | 266 | 0 | 0 |
| 4 | Mild | N188S/L385P | 24 | 3 | 0 | 100 | 1.5 | Full | Normal | Partial vitreous detachment- > normal | 332 | 323 | 0 | 0 |
| 5 | Mild | – | 27 | 21 | 0 | 100 | 0 | OD: minimal adduction deficit, OS: minimal abduction deficit. OU: elevation 25°, depression normal. Synkinetic blinking. | Decompensating esophoria | OD: partial vitreous detachment, slight peripapillary atrophy, OD/OS: Lamina cribrosa- > normal | 114 | 242 | 0 | 0 |
| 6 | Mild | G202R/ D409H (*1) | 44 | 38 | 39 | 71 | 18 | *2: abduction 10°, adduction 20°, elevation 20°, depression 10° | Decompensating esophoria | Slight retraction of the eyelids, diffuse corneal opacity, tilted disc, prominent posterior hyaloid membrane, OD: large optic nerve head and excavation | 25 | 39 | 0 | 0 |
| 7 | Intermediate | L444P/ L444P | 6 | 5 | 1 | 100 | 1 | Full | Esotropia OD | Tortuous vessels | 119 | 405 | −0.1 | −0.1 |
| 8 | Intermediate | L444P/ L444P | 7 | 6 | 0 | 104 | 1 | Full | Normal | Tortuous vessels | 119 | 452 | −0.1 | −0.1 |
| 9 | Intermediate | L444P/ L444P | 8 | 6 | 0 | 79 | 1 | Full | Normal | Normal | 88 | 333 | 0 | 0 |
| 10 | Intermediate | L444P/ L444P | 10 | 10 | 16 | 60 | 10 | OD/OS: abduction 5° before primary position (p.p.)/p.p; adduction 30°/25°, minimal elevation and depression deficit | Esotropia OD (*4) | Normal (cave: bad image quality in OCT) | – | – | 0 | 0 |
| 11 | Intermediate | L444P/ L444P | 12 | 12 | 10 | 68 | 6 | Adduction 35–40° | Alternating esotropia | Large vitreous opacities, drusen-like deposits, retinal atrophy, partial vitreous detachment | 98 | 134 | 0 | 0 |
| 12 | Intermediate | L444P/ L444P | 19 | 18 | 18 | 60 | 15 | Full, synkinetic blinking | Esotropia OD (*4) | Large vitreous opacities | – | – | 0.1 | 0.1 |
| 13 | Intermediate | L444P/ L444P | 21 | 19 | 4 | 75 | 5.5 | Abduction 45°abduction 40°, adduction 35°, elevation 15° (*3), depression normal. Synkinetic blinking. | Alternating esotropia (*5) | Large vitreous opacities, tortuous vessels, epiretinal particles on an irregular ILM and the posterior hyaloid membrane | 76 | 233 | 0 | 0 |
| 14 | Intermediate | L444P/ L444P | 23 | 23 | 0 | 100 | 2,5 | Normal | Peripapillary atrophy due to high myopia - > normal | 95 | 396 | 0 | 0 | |
| 15 | Intermediate | L444P/ L444P | 33 | 31 | 9 | 68 | 18,5 | Normal | Partial vitreous detachment, caliper changes, fine granular background, thin retina and thin vessels | 91 | 173 | 0 | 0.1 | |
| 16 | Severe | – | 19 | 18 | 7 | 79 | 12 | Secondary alternating esotropia (*6) | Vitreous opacities, druse-like deposits, retinal atrophy (RPE and photoreceptor loss), enlarged optic nerve diameter (5.5 mm) | 107 | 105 | 0 | 0.1 |
*1: G202R mutation known from GD2 with slightly reduced enzyme activity, while neuronopathic involvement is severe [34], *2: only elicitable by VOR, *3: elevation by VOR 25°, *4: patient had undergone once strabismus surgery OD, *5: patient had undergone 4 times strabismus surgery, *6: initially esotropia, Patients with ID 4, 6, 15, 16 were under anticonvulsive medication