Retinal and optic nerve degeneration in α-mannosidosis

Matlach, Juliane; Zindel, Thea; Amraoui, Yasmina; Arash-Kaps, Laila; Hennermann, Julia B.; Pitz, Susanne

doi:10.1186/s13023-018-0829-z

Orphanet Journal of Rare Diseases

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

^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

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ISSN: 1750-1172

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