SR77

Best Disease (IIB)

Male

Male

SR77

Best Disease (IIB)

Male

Male

Highlighted Images

Age at visit: 14 years
OD OS

History

This 14 year old male has a chief complaint of a sudden reduction of visual acuity in the right eye. His visual acuity has been normal in both eyes in the past.

Refraction OD:     Plano
Refraction OS:     Plano

Pedigree

Teaching Points

The clinical features favoring the diagnosis of autosomal dominant Best disease in this patient include the bright yellow vitelliform lesions, the relatively good visual acuity in the left eye and the extensive autosomal dominant family history. Autosomal dominant macular dystrophies often have good acuity despite a fairly dramatic fundus appearance.

Age at visit: 14 years
Age at visit: 14 years (Visit 2)
Age at visit: 14 years (Visit 3)
Age at visit: 14 years (Visit 4)
Age at visit: 14 years (Visit 5)
Age at visit: 15 years
Age at visit: 15 years (Visit 2)
Age at visit: 15 years (Visit 3)
Age at visit: 15 years (Visit 4)
Age at visit: 15 years (Visit 5)
Age at visit: 15 years (Visit 6)
Age at visit: 16 years
Age at visit: 16 years (Visit 2)
Age at visit: 16 years (Visit 3)
Age at visit: 16 years (Visit 4)
Age at visit: 17 years
Age at visit: 17 years (Visit 2)
Age at visit: 17 years (Visit 3)
Age at visit: 20 years
Age at visit: 20 years (Visit 2)
Age at visit: 20 years (Visit 3)
Age at visit: 20 years (Visit 4)
Age at visit: 20 years (Visit 5)
Age at visit: 20 years (Visit 6)
Age at visit: 20 years (Visit 7)

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Best Disease BEST1 Tyr227Asn TAC>AAC   AD
Disease:
Best Disease
Gene:
BEST1
Allele 1:
Tyr227Asn TAC>AAC
Allele 2:
 
Inheritance:
AD
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