Skip to main content

Table 2 Genotype and ocular characteristics of all patients

From: Retinal and optic nerve degeneration in α-mannosidosis

      Ophthalmic examination c
pat.no., gender label cDNA
(allele 1/ allele 2)
label protein
(allele 1/ allele 2)
ERT a age b [yrs] BCVA right/left anterior segment posterior segment optic nerve strabismus/nystagmus/motility imaging macular OCT
Man-1, male c.418C > T/c.418C > T p.Arg140X/p.Arg140X yes, from the age of 14 yrs. ongoing 18 0.8/0.7 normal normal normal unremarkable OCT + photo thinning of outer retinal layers
Man-2, male c.1830 + 1G > A/c.2248C > T p.?/ p.Arg750Trp no 17 0.63/0.63 normal normal normal unremarkable no n.a.
Man-3, male c.1358C > T/c.1358C > T p.Ser453Phe/p.Ser453Phe yes, from the age of 15 yrs. ongoing 21 0.5/0.63 normal normal partial atrophy saccadic motility OCT + photo thinning of outer retinal layers
Man-4, female c.1358C > T/c.1358C > T p.Ser453Phe/p.Ser453Phe yes, from the age of 22 yrs. ongoing 25 0.25/0.4 normal normal partial atrophy saccadic motility OCT + photo thinning of outer retina, macular edema
Man-5, male c.164G > T/c.599A > T p.Cys55Phe/p.His200Leu no 25 0.63/0.8 normal normal normal unremarkable no n.a.
Man-6, male c.164G > T/c.599A > T p.Cys55Phe/p.His200Leu no 19 0.5/0.63 normal normal normal unremarkable no n.a.
Man-7, female c.2248C > T/c.2248C > T p.Arg750Trp/p.Arg750Trp no 26 0.32/0.5 cerulean cataract normal normal unremarkable no n.a.
Man-8, female c.1830 + 1G > C /c.1830 + 1G > C p.VAL549_Glu610del/ p.VAL549_Glu610del no 34 0.32/0.32 normal normal normal down-beat nystagmus, saccadic motility no n.a.
Man-9, male c.2248C > T/c.2248C > T p.Arg750Trp/p.Arg750Trp no 29 n.a. normal tapeto-retinal, one spicules atrophy exotropia, down-beat nystagmus photo n.a.
Man-10, male c.484_487dupGCCA/c.484_487dupGCCA p.Thr163Serfsx25/p.Thr163Serfsx25 no, but stem cell transplantation at the age of 3 yrs 3 0.5/0.25 normal normal normal unremarkable no n.a.
Man-11, male c.338-348dup11/c.338-348dup11 p.Ile117profsX44/p.Ile117profsX44 no 3 binocular 0.8 normal normal normal unremarkable no n.a.
Man-12, male c.2921_2922delCA/c.2921_2922delCA p.(Thr974ArgfsTer80/p.(Thr974ArgfsTer80 no 14 binocular 0.1 normal normal normal unremarkable no n.a.
Man-13, female c.1830 + 1G > C/c.2248C > T p.VAL549_Glu610del/p.Arg750Trp no 19 1.0/0.63 normal normal normal unremarkable no n.a.
Man-14, male c.844C > T/c.844C > T p.Pro282Ser/p.Pro282Ser no 16 0.2/0.2 normal tapeto-retinal degeneration normal unremarkable no n.a.
Man-15, female c.2248C > T/c.2426 T > C p.Arg750Trp/p.Leu809Pro no 20 0.5/0.5 normal normal normal unremarkable no n.a.
Man-16, male c.2248C > T/c.2248C > T p.Arg750Trp/p.Arg750Trp no 15 0.8/0.63 corneal haze normal normal unremarkable no n.a.
Man-17, male c.2724G > A/c.2724G > A p.TRP908X no 5 0.5/0.5 normal normal normal unremarkable no n.a.
Man-18, male c.1351G > T/c.[1501 T > A; 2849G > C] p.Gly451Cys/p.([Cys501Ser; Arg950Pro]) no 9 1.0/1.0 normal normal normal unremarkable no n.a.
Man-19, female c.2248C > T/c.2248C > T p.Arg750Trp/p.Arg750Trp no 33 0.63/0.63 normal myelinated nerve fibers partial atrophy unremarkable no n.a.
Man-20, male c.283G > C/c.283G > C p.Ala95Pro/p.Ala95Pro no 13 0.8/0.8 normal normal normal unremarkable no n.a.
Man-21, male c.2234C > G/c.2234C > G p.Thr745Arg/p.Thr745Arg yes, from the age of 25 yrs. ongoing 29 1.0/0.9 normal normal normal hypometric motility OCT + photo thinning of outer retinal layers
Man-22, female c.788C > T/c.2355G > A p.Pro263Leu/p.Arg757MetfsTer6 no 18 n.a. normal normal normal esotropia no n.a.
Man-23, male c.1816delA/c.1830 + 1G > C p.Thr606ProfsTer18/p. Val549_Glu610del no 42 0.9/0.5 normal normal normal esotropia, nystagmus on lateral gaze no n.a.
Man-24, female c.1816delA/c.1830 + 1G > C p.Thr606ProfsTer18/p. Val549_Glu610del no 40 0.32/0.8 normal macular changes atrophy esotropia no n.a.
Man-25, male c.1310-2A > G/c.2248C > T p.?/ p.Arg750Trp no 27 0.25/0.25 normal normal partial atrophy unremarkable no n.a.
Man-26, male c.283G > C/c.283G > C p.Ala95Pro/p.Ala95Pro no 16 1.0/0.8 corneal haze normal normal unremarkable no n.a.
Man-27, female c.1351G > T/c.1830 + 1G > C p.Gly451Cys/p. Val549_Glu610del no 27 0.5/0.63 normal normal normal unremarkable no n.a.
Man-28, female c.2248C > T/c.1046insC p.Arg750Trp/ p.? yes, from the age of 7 yrs. ongoing 14 1.0/0.8 normal normal normal unremarkable OCT + photo normal
Man-29, female c.263-2A > c/c.1204G > A p.?/p.Glu402Lys no 53 0.8/0.7 normal normal normal saccadic motility OCT + photo thinning of outer retinal layers
Man-30, female c.215A > T/c.2471G > A p.His72Leu/p.Gly824Glu no 24 0.63/1.0 anterior polar cataract normal normal esotropia, up-beat nystagmus OCT + photo thinning of outer retinal layers
Man-31, female c.2248C > T/c.2248C > T p.Arg750Trp/p.Arg750Trp yes, from the age of 3 yrs. ongoing 3 binocular 0.5 normal normal normal unremarkable no n.a.
Man-32, male n.a. n.a. yes, from the age of 10 yrs. ongoing 10 0.2/0.63 normal normal normal exotropia OCT + photo normal
  1. aERT: weekly treatment with velmanase alfa; bage at the last ophthalmic examination; cophthalmic findings at the last presentation
  2. Abbreviations: BCVA best-corrected visual acuity, ERT enzyme replacement therapy, n.a. not available/applicable, OCT optical coherence tomography, yrs. years