Molecular Vision: Lacassagne, Mol Vis 2011; 17:309-322. Table 2

Table 2. Clinical presentation, electrophysiological findings, and OCTs of the patients involved in this study.

Patient	Exon	Nucleotide Change	Amino Acid Change	Effect	Age of onset	Age at examination	Visual acuity at examination	EOG (Arden ratio: Right Eye/Left Eye)	Fundus examination	OCT	Flash ERGs	mfERG
II-1	2	c.15C>A	p.Y5X	Stop mutation		48	0.200/200.	315/286	Normal	Normal	Normal	Normal
II-2	4	c.430A>G	p.S144G	Charge/Polarity		44	0.200/200.	145/138	Normal	Normal	Normal	Normal
II-3	4	c.430A>G	p.S144G	Charge/Polarity		33	0.200/200.	145/198	Normal	Normal	Normal	Normal
II-4		no mutation				41	0.200/200.
III-1	2,4	c.15C>A c.430A>G	p.Y5X p.S144G	Stop mutation Charge/Polarity	6	23	20/200 (right eye) 130/200 (left eye)	129/111	Typical vitelliform lesions in both eyes	Disruption of the photoreceptor layer / Highly reflective materiel at the RPE layer in both eyes	Dramatic decrease of the ERGs responses	Retinal electrogenesis of the central cones severely altered
III-2	4	c.430A>G	p.S144G	Charge/Polarity		19	0.200/200	124/130	Normal	Normal	Normal	Normal
III-3		no mutation				16	0.200/200.
III-4	4	c.430A>G	p.S144G	Charge/Polarity	4	9	30/200 (right eye) 200/200 (left eye)	263/156	Typical (right eye) or faded (left eye) vitelliform lesions	Disruption of the photoreceptor layer (right eye), abnormal thickness of the foveal region (left eye)	Dramatic decrease of the ERGs responses