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NA22777 DNA from LCL

Description:

GLAUCOMA, PRIMARY OPEN ANGLE; POAG

Affected:

Yes

Sex:

Female

Age:

52 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 Black/African American
Family History Y
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; mother has high intraocular pressure (IOP) and is under treatment; asthma; hypothyroidism; cataracts in both eyes; no past history of smoking; glaucomatous visual field loss in right eye; normal color vision

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 52 YR
Sex Female
Racial Category Black/African American
 
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.  No Data
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?  Never
How many packs per day?  No Data
Smoked for how many years?  No Data
If you quit, at what age in years?  No Data
Current Medication
List systemic medications  THYROID SUPPLEMENT, COLON CLEANSE
List ocular medications  ALPHAGAN (OU BI)
Ophthalmic Procedures
Cataract extraction (CE)/Intraocular lens implant (IOL)  N/A
Laser trabeculoplasty (ALT/SLT)  Right eye (OD)
Trabeculoplasty  N/A
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)  30
Maximum intraocular pressure (IOP) - left eye (mm Hg)  23
Current intraocular pressure (IOP) - right eye (mm Hg)  21
Current intraocular pressure (IOP) - left eye (mm Hg)  20
Vision - right eye  20/10
right eye pin hole (best corrected vision)  No Data
Vision - left eye  20/10
left eye pin hole (best corrected vision)  No Data
With correction? yes  no  
Central corneal thickness (CCT) - right eye  534
Central corneal thickness (CCT) - left eye  540
Optic Nerve (cup/disk ratio) - right eye  0.7
Optic Nerve (cup/disk ratio) - left eye  0.6
Gonioscopy Normal? yes  no  
Gonioscopy - right eye  D35F OPEN
Gonioscopy - left eye  D35F OPEN
Glaucomatous visual field loss - right eye yes   no 
Pattern standard deviation (PSD)- right eye  2.53
Glaucomatous visual field loss - left eye yes  no  
Pattern standard deviation (PSD) - left eye  1.99
Color vision  normal
If abnormal, give description of type.  No Data
Pseudoisochromatic plates  10/10
Remarks Clinically affected; mother has high intraocular pressure (IOP) and is under treatment; asthma; hypothyroidism; cataracts in both eyes; no past history of smoking; glaucomatous visual field loss in right eye; normal color vision

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
Add to Cart
How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
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Same Subject
  • GM22777 - B-Lymphocyte
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