Table 1

Summary of clinical characteristics in examined participants with biallelic RDH12 mutations

Subject	Age at exam (decades)	Sex	Presenting symptoms	Age at onset (years)	Initial BCVA R/L	Follow-up period; latest BCVA R/L	Autorefraction	Fundus findings	VF	ERG	Additional findings
Case 1	Fourth	F	Photophobia, nyctalopia	31	0.2/0.5	7.33 years; 0.2/0.5	–0.25–2.25×174° –1.0–1.0×174°	Geographical macular atrophic scar with hyperpigmentation OU	Binasal scotoma OU	Normal	Family history unremarkable
Case 2	Third	F	Decreased BCVA	NA	0.8/0.8	9.5 years; 0.6/0.1	–5.0–1.0×161° –5.0	Macular atrophy with small central island OU; peripheral RPE changes OU	Central scotoma OU	Normal	Family history unremarkable
Case 3	Fourth	F	Decreased BCVA	6	0.5/0.03	5 months; 0.4/0.08	–1.5–2.0×162° –3.75–0.5×178°	Hyperpigmented chorioretinal atrophy with central island OU	Central scotoma with parapapillary island OU	Normal	Elder sister of case 4
Case 4	Fourth	M	Decreased BCVA	16	0.8/0.1	5 months; 0.8/0.1	–3.0–0.5×165° –2.75–0.25×56°	Macular atrophy OU	Paracentral scotoma OU	Normal rod response; subnormal cone response	Younger brother of case 3
Case 5	Second	F	Decreased BCVA	5	0.2/0.3	1.25 years; 0.1/0.1	–9.5–0.5×9° –8.5–0.25×179°	Central geographical macular atrophy with hyperpigmentation OU	Paracentral scotoma OD	Mild decreased rod and cone response	Family history unremarkable
Case 6	Sixth	F	Decreased BCVA	47	0.9/0.1	1 month; 0.9/0.1	–4.75–0.25×2° –4.5–0.25×35°	Pigmented pseudocoloboma-like macular atrophy OU	Central scotoma OU	Subnormal rod and cone response	Family history unremarkable
Case 7	Second	F	Decreased BCVA, photophobia	11	0.1/0.1	4.5 years; 0.08/0.1	–6.75–3.25×3° –6.25–4.5×162°	Variable degrees of pigmentation within the well-demarcated macular atrophy OU	Central scotoma OU	Subnormal cone response	Family history unremarkable

BCVA, best-corrected visual acuity; ERG, electroretinogram; F, female; L, left; M, male; NA, not available; OD, oculus dexter; OU, oculus uterque; R, right; RPE, retinal pigment epithelium; VF, visual field.