Age at visit: 46 years | OD | OS |
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This 46 year old woman has a chief complaint of mildly reduced visual acuity. She first noticed some blurring of her vision in both eyes at age 32. Her visual acuity was completely normal as a child and young adult.
Refraction OD:     | Plano |
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Refraction OS:     | Plano +0.25 x 52 |
The clinical features favoring the diagnosis of Malattia Leventinese in this patient include the confluent drusen with dark cores, the relatively good visual acuity, the radial drusen temporal and inferior to the macula, the large peripapillary drusen and the extensive autosomal dominant family history. Autosomal dominant macular dystrophies often have good acuity despite a fairly dramatic fundus appearance.
Age at visit: 32 years |
OD | |||
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Age at visit: 46 years |
OD | OS | ||
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Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
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Malattia Leventinese | EFEMP1 | Arg345Trp CGG>TGG | AD |