Age at visit: 8 years | |
OD | OS |
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This 8 year old girl had macular lesions noted incidentally during a routine eye examination at age 3.
Refraction OD: | Plano |
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Refraction OS: | Plano |
The clinical features favoring the diagnosis of North Carolina macular dystrophy include: atrophic macular lesions surrounded by a gliotic rim; visual acuity better than one would expect given the anatomy; and, a similarly affected mother.
Age at visit: 8 years |
OD | OS | ||
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Age at visit: 9 years |
OD | OS | ||
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Age at visit: 11 years |
OD | OS | ||
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Age at visit: 13 years |
OD | OS | ||
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Age at visit: 14 years |
OD | OS | ||
---|---|---|---|
Age at visit: 33 years |
OD | OS | ||
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OD | OS | ||
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Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
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North Carolina Macular Dystrophy | PRDM13 | HG19 - chr6:100040906 G>T | AD |