SR57

Stickler Syndrome (IIIE1)

Female

Female

SR57

Stickler Syndrome (IIIE1)

Female

Female

Highlighted Images

Age at visit: 65 years (Visit 2)
OD OS

History

This 53 year old woman had a hip replacement at age 25, cataract surgery at ages 31 and 37 and experienced a rhegmatogenous retinal detachment OD at age 48.

Refraction OD:     -1.75 +0.75 x 18
Refraction OS:     -4.00 +0.50 x 175

Pedigree

Teaching Points

The clinical features favoring the diagnosis of Sticker syndrome in this patient include extensive radial lattice degeneration, a personal and family history of rhegmatogenous retinal detachment, a history of cataract surgery before age 40, severe arthritis in her hips and a slightly flattened mid-face.

Age at visit: 30 years
Age at visit: 30 years (Visit 2)
Age at visit: 53 years
Age at visit: 57 years
Age at visit: 57 years (Visit 2)
Age at visit: 58 years
Age at visit: 58 years (Visit 2)
Age at visit: 59 years
Age at visit: 60 years
Age at visit: 61 years
Age at visit: 65 years
Age at visit: 65 years (Visit 2)
Age at visit: 66 years
Age at visit: 69 years
Age at visit: 71 years
Age at visit: 71 years (Visit 2)

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Stickler Syndrome COL2A1 Arg785Stop CGA>TGA   AD
Gene:
Allele 1:
Arg785Stop CGA>TGA
Allele 2:
 
Inheritance:
AD
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