. 2020 Aug 3;29(18):2989–3002. doi: 10.1093/hmg/ddaa166

Table 2.

Clinical characteristics of patients with SLC38A8 mutations

Pedigree ID	Patient ID	Initial clinical diagnosis	Genetic diagnosis	Sex	Age (years)	Ethnicity	Refraction		BCVA^a		Anterior Segment	Strabismus	Nystagmus^b	Ultra-wide field imaging	OCT^c	VEP
							RE	LE	RE	LE
F1	F1:II-1	PAX6-related phenotype	SLC38A8	F	18	Korean	+2.00–3.00 Ax180	+2.00–3.00 Ax180	0.52	0.70	Normal	No	PFS	N/A	Grade 3	Chiasmal misrouting
F1	F1:II-2	PAX6-related phenotype	SLC38A8	M	15.8	Korean	−0.25 -3.00 Ax180	−0.50 -4.00 Ax180	0.70	0.52	Normal	Exotropia	DJ	N/A	Grade 3	Chiasmal misrouting
F2	F2:II-1	PAX6-related phenotype	SLC38A8	M	10	Korean	+2.75–3.50 Ax180	+3.25–2.75 Ax15	0.30	0.52	Normal	No	PPFS	N/A	Grade 3	Chiasmal misrouting
F3	F3:II-1	Ocular albinism	SLC38A8	M	0.6	Korean	+2.00–3.00 Ax180	+2.00–4.00 Ax180	CSM	CSM	Normal	No	BDJ	N/A	N/A	Chiasmal misrouting
F4	F4:II-1	Idiopathic infantile nystagmus	SLC38A8	M	6	Korean	+3.25–2.00 Ax180	+2.75–2.50 Ax180	0.40	0.40	Normal	No	BDJ	CMR	Grade 3	Chiasmal misrouting
F5	F5:II-1	PAX6-related phenotype	SLC38A8	F	14	Korean	+4.50–4.00 Ax170	+5.00–3.00 Ax180	0.30	0.52	Normal	No	BDJ	N/A	Grade 3	NA
F5	F5:II-2	PAX6-related phenotype	SLC38A8	M	12	Korean	+1.75–3.50 Ax180	+2.00–3.50 Ax180	0.30	0.52	Normal	Esotropia	BDJ	N/A	Grade 3	NA
F6	F6:II-2	PAX6-related phenotype	SLC38A8	M	27	Korean	+2.00–2.00 Ax180	+3.25–2.50 Ax10	0.52	0.40	Normal	Exotropia	PFS	CMR	Grade 3	Chiasmal misrouting
F7	F7:II-3	?FHONDA	SLC38A8	F	13	Turkish	+1.00–2.00 Ax180	+1.00–2.00 Ax180	0.78	0.64	Normal	Esotropia	PFS	N/A	Grade 3	Chiasmal misrouting
F8	F8:II-1	Ocular albinism	SLC38A8	M	28	Caucasian	+3.75–4.50 Ax180	+4.00–4.00 Ax180	0.60	0.60	TID	Esotropia	PAN	N/A	Grade 4	Chiasmal misrouting
F9	F9:II-1	Albinism	SLC38A8	F	36	Caucasian	+1.25–1.25 Ax160	+1.00–1.00 Ax180	0.64	0.60	TID	Exotropia	BDJ	N/A	Grade 4	Chiasmal misrouting

^aBCVA reported in logMAR.

^bAll nystagmus was horizontal and conjugate with accelerating slow phases.

^cStructural grading was based on the scheme previously described: Thomas M.G., Kumar A., Mohammad S. et al. Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity? Ophthalmology 2011, 1653–1660.

Abbreviations: FHONDA = foveal hypoplasia with optic nerve decussation defects and anterior segment dysgenesis without albinism; F = female; M = male; RE = right eye; LE = left eye; BCVA = best corrected visual acuity; CSM = central steady and maintained; OCT = optical coherence tomography; VEP = visual evoked potentials; TID = trans-illumination defects of iris; BDJ = Bidirectional jerk; DJ = dual jerk; PPFS = pseudopendular with foveating saccades; PFS = pendular with foveating saccades; PAN = periodic alternating nystagmus; N/A = not available; CMR = concentric macular ring sign present.