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NA22526
DNA
from
LCL
Description:
GLAUCOMA, PRIMARY OPEN ANGLE; POAG
Affected:
Yes
Sex:
Male
Age:
55
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
Publications
External Links
Overview
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
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; insulin-dependent diabetes with onset at 54 years of age; no history of smoking; glaucomatous visual field loss in both eyes; normal color vision
Characterizations
IDENTIFICATION OF SPECIES OF ORIGIN
Species of Origin confirmed by LINE assay
Phenotypic Data
Demographic Data
Relation to Proband
proband
Age at Sampling
55 YR
Sex
Male
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.
54
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
INSULIN, AVANDAMAT,BISOPROLOL/HCTZ, QUNAPRIL
List ocular medications
NEVARAC (OU DAILY)
Ophthalmic Procedures
Cataract extraction (CE)/Intraocular lens implant (IOL)
N/A
Laser trabeculoplasty (ALT/SLT)
N/A
Trabeculoplasty
Right eye (OD)
Tube (drainage implant)
Left eye (OS)
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)
41
Maximum intraocular pressure (IOP) - left eye (mm Hg)
42
Current intraocular pressure (IOP) - right eye (mm Hg)
8
Current intraocular pressure (IOP) - left eye (mm Hg)
11
Vision - right eye
20/70 -1
right eye pin hole (best corrected vision)
20/60 -1
Vision - left eye
20/50 +1
left eye pin hole (best corrected vision)
20/40 -1
With correction?
yes
no
Central corneal thickness (CCT) - right eye
448
Central corneal thickness (CCT) - left eye
458
Optic Nerve (cup/disk ratio) - right eye
0.9
Optic Nerve (cup/disk ratio) - left eye
0.9
Gonioscopy Normal?
yes
no
Gonioscopy - right eye
D40F OPEN
Gonioscopy - left eye
C30F 2+PIG 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; insulin-dependent diabetes with onset at 54 years of age; no history of smoking; glaucomatous visual field loss in both eyes; normal color vision
Publications
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
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
Commercial/For-profit:
$225.00
USD
Academic/Non-profit/Government:
$113.00
USD
Add to Cart
How to Order
Ordering Instructions
MTA / Assurance Form
Statement of Research Intent Form
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GM22526 - B-Lymphocyte
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