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Table 2 Clinical data of Gaucher type 3 patients

From: A comprehensive monocentric ophthalmic study with Gaucher disease type 3 patients: vitreoretinal lesions, retinal atrophy and characterization of abnormal saccades

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. *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