Table 1.

Clinical details for affected individuals

Pedigree number	Age (years)	Retinal appearances	Visual acuity right, left	Electrophysiological findings	Sensorineural hearing loss (age detected, years)	Other ocular findings
I:1	died aged 72	Bilateral “macula chorioretinitis”	Poor vision		Yes (40s)
II1	67	Both eyes: well demarcated area of chorioretinal atrophy with pigment hypertrophy centred on the macula	6/18, 6/24	Declined testing	Yes (50)	Left exotropia, iris heterochromia
II3	77	Both eyes: well demarcated area of chorioretinal atrophy with pigment hypertrophy centred on the macula	HM, 6/18	PERG: normal	Yes (60)	Low myopia
				EOG: mildly subnormal		Right squint surgery as child
				ERG: normal
III1	42	Right eye: well demarcated area of chorioretinal atrophy with pigment hypertrophy		Declined testing	Yes (36)
		Left eye: multiple yellow drusen-like deposits at the macula
III3	41	Both eyes: well demarcated area of chorioretinal atrophy with pigment hypertrophy centred on the macula	6/9, 6/9		Yes (20)	Low myopia
III5	died aged 41	Bilateral macular dystrophy	Not known		Hearing loss
III:6	51	Multiple yellow drusen-like deposits centred on both maculas	6/9, 6/9	PERG: mild reduction	Yes (40s)	Low myopia
				EOG: normal		Left squint surgery aged 4
				ERG: normal
III8	44	Multiple yellow drusen-like deposits centred on both maculas	6/6, 6/6	Declined testing	No
IV3	15	Multiple yellow drusen-like deposits centred on both maculas	6/6, 6/6	ERG: normal	Not detected	Low myopia
				EOG: mildly subnormal		Left strabismic amblyopia
IV4	13	Multiple yellow drusen-like deposits centred on both maculas	6/9, 6/24	ERG: normal	Not detected
				EOG: mildly subnormal

ERG = electroretinogram; PERG = pattern ERG; EOG = electro-oculography.