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Table 1 Demographics and ocular findings of all patients

From: Retinal and optic nerve degeneration in α-mannosidosis

n of patients 32
Sex, male/female 19 (59.4%)/13 (40.6%)
Age, years  
 1st presentation 18.4 ± 11.8 (1–53)
 Last presentation 20.8 ± 11.6 (3–53)
BCVA, decimal  
 1st presentation 0.56 ± 0.28 (0.04–1.00)
 Last presentation 0.60 ± 0.25 (0.10–1.00)
ERT with velmanase alfa 7 (21.9%)
Ocular pathologiesa  
 Lens opacity 3 (9.4%)
 Corneal haze 2 (6.3%)
 Optic nerve atrophy, also partial 6 (18.8%)
 Tapeto-retinal degeneration (by funduscopy) 3 (9.4%)
Tapeto-retinal degeneration (by OCT) 6/8 b
Tapeto-retinal degeneration (by photo) 3/8 b
 Manifest strabismus 6 (18.8%)
 Nystagmus 4 (12.5%)
 Saccadic/hypometric eye movements 5 (15.6%)
  1. Data are absolute vales (%), mean ± standard deviation (min-max), as appropriate.
  2. aocular pathologies that were noticed at all presentations
  3. b8 retinal images could be obtained by OCT/fundus photography; of these, 6 showed retinal degeneration on OCT (thinning of the outer layers); in 1 woman, macular edema was seen due to tapeto-retinal degeneration.
  4. Abbreviations: n number of patients, BCVA best-corrected visual acuity, ERT enzyme replacement therapy, OCT optical coherence tomography