Table 1 Clinical manifestations

Family ID	Relation to index (subject)	Age at examination (years)	Age of onset (years)	Visual acuity* (RE/LE)	Colour vision classification	Visual field (both eyes)	Optic nerve head (both eyes)	Other known ocular disorders	Other known disorders/symptoms	Mutation
OAK334	Index	6	4	0.6/0.2	Normal	Normal	Complete pallor	–	Arachnoidal cyst	Exon 24 del
	Father	36	Unknown	0.6–0.8/0.7–0.8	n.d.	Normal	Temporal pallor	Myopia	–	Exon 24 del
OAK230	Index (II-1)	23	5.5	0.07/0.15	Tritanopia	Centrocoecal scotoma	Complete pallor	Hyperopia	Hydronephrosis	Exon 1–27 del
	Father (I-1)	Unknown	Unknown	0.9/0.8	Tritanopia	Paracentral scotoma left	Slight excavation	–	–	Exon 1–27 del
	Daughter (II-2)	20	4.5	0.2/0.2	Tritanopia	Normal	Complete pallor	Strabismus/hyperopia	–	Exon 1–27 del
OAK103	Index (II-1)	14	2	0.4/0.5	n.d	Normal	Temporal pallor	–	–	complete deletion
	Aunt (I-1)	51	12	0.3–0.4/0.3	n.d	n.d	Complete pallor	Cataract	Parkinson’s disease	complete deletion
OAK144	Index	47	Unknown	0.5/0.6	Mild tritanopia	Slight temporal scotoma	Temporal pallor	–	–	Exon 7–9 dup
OAK66	Index	69	Childhood	0.05/0.05	Tritanopia	Centrocoecal scotoma	Complete pallor	Glaucoma	–	Exon 7–9 dup
	Brother	66	Childhood	0.05/0.05	Tritanopia	Centrocoecal scotoma	Complete pallor	–	–	Exon 7–9 dup
OAK506	Index	33	9	0.3/0.5	Dyschromatopsia	Normal	Complete pallor	–	–	Exon 1–5 del
	Father	59	Childhood	CF/0.1	Dyschromatopsia	Centrocoecal scotoma	Complete pallor	Right esotropia	Type II diabetes	Exon 1–5 del