A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing

Table 2 Ocular examinations of affected family members with Axenfeld-Rieger Syndrome

Ocular examinations	I-2		II-1		II-2
Ocular examinations	OD	OS	OD	OS	OD	OS
BCVA	NLP	20/200	20/20	20/33	20/50	20/33
IOP (Goldman tonometry, mmHg)	N/A	21^a	25	40	34	34
CCT (μm)	N/A	618	562	579	560	564
C/D	N/A	0.9	0.3	1.0	0.5	0.5
FHA: MD (dB)	x	x	−0.69	−4.8	−11.74	x
Horizontal corneal diameter (mm)	7.5	9	9.5	9.5	^b	^b
Specular microscope (cells/m²)	^b	^b	1626	1636	^b	^b

C/D cup-to-disc ratio, FHA Humphrey Visual Field Analyzer, MD Mean Deviation, NLP No light perception; N/A: the patient can not finish the examination because of adherent leukoma; x: the patient can not finish the examination because of low vision; ^aIOP after trabecylectomy; ^bthe patient refuses to do the examination; IOP reference range: ≤21 mmHg

ISSN: 1471-2350