Skip to main content

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
Back to article page

Orphanet Journal of Rare Diseases

ISSN: 1750-1172