Age at visit: 61 years | OD | OS |
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This 61 year old woman has mildly reduced visual acuity. She first noticed some distortion of her vision in both eyes at age 50. Her visual acuity was completely normal as a child and young adult, but in her 30's, she noticed that her acuity would diminish for a few minutes after exposure to bright light (such as sunlight on a sidewalk).
Color Vision:     | Correctly identified all 14 pseudoisochromatic plates OU |
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Refraction OD:     | +0.50 +0.75 x 015 |
Refraction OS:     | +0.75 +0.50 x 175 |
The clinical features favoring the diagnosis of autosomal dominant pattern dystrophy in this patient include the large, bright yellow, reticular subretinal deposits, the relatively good visual acuity and the extensive autosomal dominant family history. Autosomal dominant macular dystrophies often have good acuity despite a fairly dramatic fundus appearance.
Age at visit: 37 years |
OD | OS | ||
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Age at visit: 53 years |
OD | OS | ||
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Age at visit: 59 years |
OD | OS | ||
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OD | OS | ||
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Age at visit: 61 years |
OD | OS | ||
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OD | OS | ||
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Age at visit: 68 years |
Age at visit: 70 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
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Pattern Dystrophy | PRPH2 | Gly167Asp GGC>GAC | AD |