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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2
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Relation to Proband
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brother
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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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| Remarks |
Clinically affected; onset in mid-teens (age 17 years); rapid onset of visual loss in teens, starting with slightly blurry vision then progressive deterioration of visual acuity within a span of months; underwent exploratory craniotomy and optic nerve sheath decompression for scar tissue on the optic nerve; very slow progression, if any, since mid-teens; visual acuity noted to be 20/400 in either eye (with correction); Ishihara contrast plate testing: no plates were identifiable by donor subject; Farnsworth Dichotomous Test for color blindness revealed primarily a tritan deficiency in the right eye, although mixed abnormalities were present. In the left eye deutan and tritan abnormalities with a mixed deficit were identified; optic atrophy of 3-4+ was present with marked "pipes-on-the-ground" appearance of the retinal vessels due to retinal nerve fiber layer atrophy; ERG showed photopic O.D. and O.S. having subnormal amplitudes with normal implicit times; scotopic O.S. has subnormal amplitudes and borderline normal implicit times, which suggests congenital photoreceptor loss with O.S. worse than O.D.; Goldman visual field demonstrated enlargement of blindspot superiorly in right eye, and a superior central scotoma with a sharp linear margin and the horizontal meridian; enlargement of the blind spot in the left eye with a cecocentral pattern involving area of central fixation, a smaller more dense area was present between 10 and 20 degrees superiorly; mitochondrial DNA retains the Sfa NI restriction site, indicating subject is negative for Leber's optic atrophy; see GM10625 (fibro); affected brother is GM03857 (lymph) and GM03858 (fibro). |
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