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NA22597 DNA from LCL

Description:

GLAUCOMA, PRIMARY OPEN ANGLE; POAG

Affected:

Yes

Sex:

Male

Age:

49 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Family History N
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; no family history of glaucoma; hypertension; diet-controlled noninsulin-dependent diabetes with onset at 46 years of age; arthritis; cataracts in both eyes; past history of smoking - 2 packs a day for 14 years; stopped at age 32; glaucomatous visual field loss in both eyes; total color blindness

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 

Phenotypic Data

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Demographic Data
Relation to Proband proband
Age at Sampling 49 YR
Sex Male
Racial Category White
 
Data Elements
Clinical Element Type: Glaucoma
  (Baseline)
Systemic Conditions
Hypertension yes   no  unknown 
Diabetes yes   no  unknown 
If yes, give age at onset in years.  46
Insulin-dependent? yes  no  
Coronary artery disease yes  no   unknown 
Had myocardial infarction (MI)? yes  no  
Congestive heart disease yes  no   unknown 
Chronic obstructive pulmonary disease (COPD) yes  no   unknown 
Asthma yes  no   unknown 
Thyroid (hypothyroidism) yes  no   unknown 
Rheumatoid arthritis yes  no   unknown 
Osteoarthritis yes  no   unknown 
Arthritis, unspecified yes   no  unknown 
Migraines yes  no   unknown 
Other  No Data
Smoking History
Smoker?  In the past
How many packs per day?  2
Smoked for how many years?  14
If you quit, at what age in years?  32
Current Medication
List systemic medications  VERAPAMIL, PRINIVIL, HCTZ
List ocular medications  NONE
Ophthalmic Procedures
Cataract extraction (CE)/Intraocular lens implant (IOL)  N/A
Laser trabeculoplasty (ALT/SLT)  N/A
Trabeculoplasty  Both eyes (OU)
Tube (drainage implant)  N/A
Canal oplasty  N/A
Ophthalmic Conditions
Age-related macular degeneration (AMD)  N/A
Cataracts  Both eyes (OU)
Diabetic retinopathy  N/A
Ocular Exam Results
Maximum intraocular pressure (IOP) - right eye (mm Hg)  45
Maximum intraocular pressure (IOP) - left eye (mm Hg)  45
Current intraocular pressure (IOP) - right eye (mm Hg)  No Data
Current intraocular pressure (IOP) - left eye (mm Hg)  No Data
Vision - right eye  20/200
right eye pin hole (best corrected vision)  NI
Vision - left eye  20/40 -1
left eye pin hole (best corrected vision)  NI
With correction?  No Data
Central corneal thickness (CCT) - right eye  525
Central corneal thickness (CCT) - left eye  517
Optic Nerve (cup/disk ratio) - right eye  0.9 X 0.9
Optic Nerve (cup/disk ratio) - left eye  0.9 X 0.95
Gonioscopy Normal? yes  no  
Gonioscopy - right eye  D35R OPEN
Gonioscopy - left eye  D35R OPEN
Glaucomatous visual field loss - right eye yes   no 
Pattern standard deviation (PSD)- right eye  9.31
Glaucomatous visual field loss - left eye  No Data
Pattern standard deviation (PSD) - left eye  6.45
Color vision  abnormal
If abnormal, give description of type.  TOTAL COLORBLINDNESS
Pseudoisochromatic plates  0/10
Remarks Clinically affected; no family history of glaucoma; hypertension; diet-controlled noninsulin-dependent diabetes with onset at 46 years of age; arthritis; cataracts in both eyes; past history of smoking - 2 packs a day for 14 years; stopped at age 32; glaucomatous visual field loss in both eyes; total color blindness

External Links

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NCBI GTR 137760 GLAUCOMA, PRIMARY OPEN ANGLE; POAG
OMIM 137760 GLAUCOMA, PRIMARY OPEN ANGLE; POAG
Omim Description GLAUCOMA 1, OPEN ANGLE, B; GLC1B
  GLAUCOMA, HEREDITARY ADULT
  GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET; POAG
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
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  • GM22597 - B-Lymphocyte
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