Outcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrast

BMC Ophthalmology

Table 1 Clinical and genetic characteristics of the GUCY2D-LCA patients

Patient, Gender	Age (y)	Allele 1	Allele 2	Eye	Visual acuity	Refractive error^a
1 F	7	Ser448X	Ser448X	RE	HM	+3.25
				LE	20/800	+3.25
2 M	9	Arg768Trp	Arg768Trp	RE^b	NLP	UP
				LE^b	NLP	+6.00
3 F	11	Arg768Trp	Glu840 ins6bp	RE	20/250	−0.25
				LE	20/250	−2.00
4 M	12	Arg588Trp	Thr839 del1bp	RE	20/125	+2.75
				LE	20/125	+1.00
5 F	14	Arg768Trp	−146 T > C	RE	20/250	−2.50
				LE	20/400	−3.50
6 F	14	Gln156X	Ser819 del1bp	RE	LP	+5.00
				LE^b	LP	UP
7 F	59	Thr312Met	Arg795Trp	RE	20/400	−0.50
				LE	20/400	−2.00

F female, M male, RE right eye, LE left eye, LP light perception, HM hand motion, NLP no light perception, UP unable to be performed
^aSpherical equivalent
^bCataract

ISSN: 1471-2415