Description:
CONGENITAL OPTIC ATROPHY, TYPE UNKNOWN
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Mitochondrial Genome |
| Class |
Ophthalmologic Disorders |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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JEWISH
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Country of Origin
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USA
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| MITOCHONDRIAL DNA ANALYSIS |
Wallace et al (Science 242:1427-1430,1988) reported that a mitochondrial DNA replacement was detected in individuals from multiple families with Leber's optic atrophy. This mutation converted a highly conserved arginine to a histidine at codon 340 in the NADH dehydrogenase subunit 4 gene and eliminated an Sfa NI site. Mitochondrial DNA from this cell culture was found to retain the Sfa NI site. |
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| Remarks |
Clinically affected; onset in mid-20's with decreased distance and near acuity; gradual deterioration in acuity from mid 20s to 40s;decreased bilateral visual acuity (20/200 in both eyes without correction); blue-green discrimination problems noticed since childhood, Farnsworth Dichotomous Test for color blindness suggestive of mixed protan and deutan deficiency in the right eye and protan deficiency in the left eye; color vision testing with Ishiara plates was markedly abnormal; Dilated fundus exam demonstrated nearly identical findings in both eyes-a sharp disc margin with a 0.25-0.3 cup/disc ratio and slight temporal pallor (2-3+ temporal greater than nasal pallor with a marked decrease in nerve fiber layer); vessels had a "pipes-on-the-ground" appearance; ERG noted bilateral optic atrophy and deuteranomaly and excluded a diagnosis of wide-spread cone degeneration; visual field examinations revealed increased threshold sensitivity centrally and small frequent eye movements straying from fixation; increasing sensitivity to light; Goldmann visual field test demonstrated a small central scotoma not involving the blind spot present in both eyes; markedly decreased contrast sensitivity bilaterally; mitochondrial DNA retains the Sfa NI restriction site, indicating subject is negative for Leber's optic atrophy; past medical history includes: Hodgkin's disease (stage IIb) treated with radiation and chemotherapy (nitrogen mustard), seizure disorder (brain scan, EEG, and arteriogram showed large A-V malformation in the right parasaggital region), hypothyroidism (as a result of radiation therapy); medications include: Dilantin, Depakene, Synthroid; see GM03858 (fibro) affected brother is GM10624 (lymph) and GM10625 (fibro). |
| Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ 2d, Nikoskelainen EK, Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science242:1427-30 1988 |
| PubMed ID: 3201231 |
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