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NA22500 DNA from LCL

Description:

GLAUCOMA, PRIMARY OPEN ANGLE; POAG

Affected:

Yes

Sex:

Male

Age:

63 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • 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; hypothyroidism; enlarged prostate; low HDL; past history of smoking (1 pack a day for 20 years - stopped at age 43 years); glaucomatous visual field loss in both eyes; 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 63 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.  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  ENLARGED PROSTATE, LOW HDL
Smoking History
Smoker?  In the past
How many packs per day?  1
Smoked for how many years?  20
If you quit, at what age in years?  43
Current Medication
List systemic medications  ARMOUR THYROID,ALTACE, FLOMAX, AVODART, NIACIN, ASA
List ocular medications  XALATAN (OS QHS)
Ophthalmic Procedures
Cataract extraction (CE)/Intraocular lens implant (IOL)  Right eye (OD)
Laser trabeculoplasty (ALT/SLT)  Both eyes (OU)
Trabeculoplasty  Both eyes (OU)
Tube (drainage implant)  N/A
Canal oplasty  N/A
Ophthalmic Conditions
Age-related macular degeneration (AMD)  N/A
Cataracts  Left eye (OS)
Diabetic retinopathy  N/A
Ocular Exam Results
Maximum intraocular pressure (IOP) - right eye (mm Hg)  23
Maximum intraocular pressure (IOP) - left eye (mm Hg)  21.5
Current intraocular pressure (IOP) - right eye (mm Hg)  6
Current intraocular pressure (IOP) - left eye (mm Hg)  11
Vision - right eye  20/30
right eye pin hole (best corrected vision)  NI
Vision - left eye  20/25 +2
left eye pin hole (best corrected vision)  NI
With correction? yes   no 
Central corneal thickness (CCT) - right eye  564
Central corneal thickness (CCT) - left eye  556
Optic Nerve (cup/disk ratio) - right eye  0.9 X 0.9
Optic Nerve (cup/disk ratio) - left eye  0.9 X 0.85
Gonioscopy Normal? yes  no  
Gonioscopy - right eye  OPEN
Gonioscopy - left eye  OPEN
Glaucomatous visual field loss - right eye yes   no 
Pattern standard deviation (PSD)- right eye  No Data
Glaucomatous visual field loss - left eye yes   no 
Pattern standard deviation (PSD) - left eye  No Data
Color vision  normal
If abnormal, give description of type.  No Data
Pseudoisochromatic plates  10/10
Remarks Clinically affected; no family history of glaucoma; hypertension; hypothyroidism; enlarged prostate; low HDL; past history of smoking (1 pack a day for 20 years - stopped at age 43 years); glaucomatous visual field loss in both eyes; normal color vision

Publications

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Abu-Amero KK, Hellani A, Bender P, Spaeth GL, Myers J, Katz LJ, Moster M, Bosley TM, High-resolution analysis of DNA copy number alterations in patients with primary open-angle glaucoma Molecular vision15:1594-8 2009
PubMed ID: 19693294

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
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  • GM22500 - B-Lymphocyte
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