《Table 1 Clinical features of known and novel CYP1B1 variants associated with PCG in Pakistani patie

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《Two novel variants in CYP1B1 gene: a major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients》

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NPL:No perception of light；PL:Perception of light；HM:Hand movement；NR:Not recordable；IOP:Intraocular pressure；CDR:Cup-Disc Ratio；Trabe:Trabeculectomy.

Four families（PCG-22，PCG-23，PCG-26 and PCG-27）harbored a frequent mutation，p.R390H，in a homozygous state（4/7；57%；Figure 1）.All 27 affected individuals（15males and 12 females）in these four families had the onset of glaucoma up to first three years of life.The patients with early trabeculectomy had low IOP and the preserved vision.Whereas the patients who did not undergo any surgical intervention had elevated IOP，severe corneal opacity and poor visual acuity.The mean IOP in patients carrying p.R390H was 38 mm Hg（Table 1）.One patient，PCG-22 IV:9 had phthisical eyes at the age of 42y and was blind.Interfamily phenotypic changes due to early interventions were seen in family PCG-23:patients V:4to V:7 underwent bilateral trabeculectomy at the early stage and had controlled IOP，near to normal CDR with improved and restored vision.Whereas patients IV:3，IV:4，IV:5 and IV:6were not surgically treated and had severe corneal opacity and megalocornea.The patients had poor visual acuity up to the perception of light，whereas the patient IV:5 was blind with maximum IOP 42 mm Hg.The detailed clinical findings of all families with p.R390H mutation are described in Table 1.