Table 2.

Patient data: Anterior segment, retinal and functional findings.

ID	Anterior Segment	Retina	Optic Disc	ERG	Dark Adaptation	mfERG	Color Vision
BD 35
III:2	IOL OU (63)	Residual foveal island, no pigmentation	pale	No residual response (52/62)	ND	ND	ND
IV:1	normal	Peripheral and peripapillary atrophic lesions, no pigmentation	vital	ND	ND	ND	ND
IV:2	normal, IOL OD (63)	Progressive peripheral and peripapillary atrophic lesions, no pigmentation	vital	slightly abnormal (18); Severely reduced (42); No residual responses (54)	Mildly increased threshold (38)	Centrally preserved but reduced responses, normal implicit time (54)	Nagel anomaloscope: normal; PD15 desaturated: minor errors
ADRP 386
IV:1	IOL OU (54)	Peripheral and peripapillary atrophy, no pigmentation	vital	Minimal photopic residual response	Increased threshold for white, red, blue	ND	ND
IV:2	normal	Peripheral and peripapillary atrophy, Minimal pigmentation OCT: OD mild ERM	vital	Residual responses	ND	Centrally preserved but reduced, normal implicit time	PD15 desaturated and saturated: minor errors
IV:3	normal	Progressive peripheral and peripapillary atrophic lesions, limited pigmentation, cystoid macular edema	vital	No residual responses (50)	Markedly increased threshold for white, red, blue (56)	Centrally preserved but reduced responses, normal implicit time (50)	PD15 desaturated and saturated: minor errors (56)

ERG: full-field electroretinography, mfERG multifocal ERG, IOL: intraocular lens, OU: both eyes, OD: right eye, ND: not done. For the three patients examined more than once, numbers in brackets indicate age of patient at the time of the examination.