SR2309

Malattia Leventinese (IIJ)

Female

Female

SR2309

Malattia Leventinese (IIJ)

Female

Female

Highlighted Images

Age at visit: 46 years
OD OS

History

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
Refraction OS:     Plano +0.25 x 52

Pedigree

Teaching Points

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
Age at visit: 33 years
Age at visit: 37 years
Age at visit: 39 years
Age at visit: 44 years
Age at visit: 46 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Malattia Leventinese EFEMP1 Arg345Trp CGG>TGG   AD
Gene:
Allele 1:
Arg345Trp CGG>TGG
Allele 2:
 
Inheritance:
AD
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