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Table 1 Clinical features of PDS and control patient cohorts from Iowa

From: Exome-based investigation of the genetic basis of human pigmentary glaucoma

 

PDS cohort

Control cohort

n = 210

n = 362

Agea

59.6 ± 13.5

61.1 ± 20.2

Gender (female %)

33.8%

56.4%

Self-reported race / ethnicity2

 White (European ancestry)

97.55%

97.60%

 Black (African ancestry)3

0.98%

0.60%

 Hispanic

0.49%

0%

 Asian (Chinese)

0.49%

0.60%

 Native American / Alaskan

0.49%

1.2%

Signs of PDS detected

 Krukenberg spindle

175 (83%)

 

 Heavy pigmentation of trabecular meshwork

198 (94%)

 

 Iris transillumination defects

180 (86%)

 

 Scheie stripe

35 (17%)

 

Diagnosis

 PDS suspect

5 (2.4%)

 

 PDS

26 (12.4%)

 

 PDS with OHT

21 (10%)

 

 Pigmentary glaucoma with OHT

148 (70%)

 

 Pigmentary glaucoma without OHT

3 (1.4%)

 

 Other (excluded from analysis)

7 (3.3%)

 

Genetics study participants

 Total enrolled

210

362

  Excluded for incomplete clinical records

7

0

  Excluded for relatedness to another subject

1

1

  Excluded for a secondary cause of pigment release

2

0

  Excluded as outliers based on PCA

2

2

 Total investigated with genetic studies

198

359

  1. aAge is at the time of blood draw and was available for n = 190 PDS patients (90%) and n = 348 control subjects (96%). 2Self-reported race/ethnicity was available from 97% of cases and 46% of controls. 3Subsequently eliminated from the study as outliers on principal components analysis. Abbreviations in the table are: ocular hypertension (OHT)