Table 2.
Genotype and ocular characteristics of all patients
| 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 |
aERT: weekly treatment with velmanase alfa; bage at the last ophthalmic examination; cophthalmic findings at the last presentation
Abbreviations: BCVA best-corrected visual acuity, ERT enzyme replacement therapy, n.a. not available/applicable, OCT optical coherence tomography, yrs. years