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 |
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Refraction OS:     | -4.00 +0.50 x 175 |
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 (Visit 2) |
OS | |||
---|---|---|---|
Age at visit: 57 years |
Age at visit: 57 years (Visit 2) |
OD | OS | ||
---|---|---|---|
Age at visit: 58 years |
OD | OS | ||
---|---|---|---|
Age at visit: 61 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) |
OD | OS | ||
---|---|---|---|
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
Stickler Syndrome | COL2A1 | Arg785Stop CGA>TGA | AD |