Table 2 of
Reddy, Mol Vis 2004;
10:696-702.
Table 2. Clinical features of 24 PCG probands with CYP1B1 mutations
Details of clinical features of the 24 probands with CYP1B1 mutations indicating their genotype, age at onset, and diagnosis along with their visual outcomes following surgical intervention with respect to IOP and visual acuity at the last follow-up. The "Alleles" column indicates whether the patient was homozygous (H), heterozygous (h), or compound heterozygous (CH). Marriages were classified as consanguineous (C) or non-consanguineous (NC). The final Intraocular pressure (IOP) is given except when it was not available due to a phthisical eye. The final visual acuity is given as a snellen measurement when possible; otherwise, it is listed as hand movements (HM), counts fingers (CF), light perception with projection (LPP), fixes and follows light (FFL), and no light perception (NLP).
Final IOP Final Acuity Patient Age at Age at --------- ----------------- ID Mutation Alleles Marriage onset diagnosis OD OS OD OS ------- ------------------------ ------- -------- ------- --------- --- --- ------- ------- PCG050 g.3905-3927del23 bp H C birth 7 year 24 30 CF (1m) LPP PCG107 L77P H C birth 18 year 26 20 LPP LPP PCG008 A115P H C birth 6 day 18 16 20/40 20/30 PCG122 M132R H NC 2 month 6 year NA 22 NLP 20/1200 PCG086 Q144P h NC birth 10 day 8 10 20/130 20/130 PCG131 P193L H NC birth 16 month 11 13 20/170 20/170 PCG155 E229K h C birth 2 month 12 12 20/50 20/50 PCG021 S239R H C birth 4 year 19 10 20/125 NLP PCG147 S239R H C birth 3 month 10 20 FFL FFL PCG081 g.7900-7901delCG H C birth 2 month 18 24 FFL FFL PCG171 R368H H NC birth 2 year 12 NA FFL FFL PCG185 R368H H C birth 18 day 24 24 FFL FFL PCG186 R368H H C birth 27 day 16 18 20/1900 20/1900 PCG189 R368H H C birth 1 month 12 14 20/63 20/63 PCG182 R368H h NC birth 6 day 14 14 20/130 20/130 PCG120 G61E, R368H CH NC 1 month 9 year 18 34 20/20 HM PCG190 R368H, R390H CH NC birth 16 year 38 12 20/100 20/30 PCG180 R390C H C birth 1 Day 12 10 20/470 20/470 PCG184 R390C H NC birth 20 day 12 16 20/470 20/470 PCG154 R390H H C 15 day 4 year NA 21 NLP LPP PCG119 R390H H C birth 10 year 27 NA 20/125 NLP PCG094 P437L H C birth 10 day 26 24 20/200 LPP PCG009 G466D H C birth 2 month 15 NA 20/760 NLP PCG110 g.8037-8046dupTCATGCCACC H C birth 2 year 16 26 FFL FFL |