| Age at visit: 36 years (Visit 2) | OD | OS |
|---|---|
This 36 year old man first noticed constricted visual fields at age 6 when he began bumping into things. He was also felt to be "uncoordinated" as a child and had an abnormal gait.
| Refraction OD:     | -1.00 + 0.50 x 23 |
|---|---|
| Refraction OS:     | -1.00 sphere |
The clinical features supporting the diagnosis of retinitis pigmentosa with ataxia in this patient include: constricted visual fields; night blindness; bone-spicule-like pigmentation and narrowed arterioles on ophthalmoscopy; photoreceptor loss on OCT; a wide-based gait, absent proprioception and vibration sense in his fingers and toes; and, normally sighted parents.
| Age at visit: 34 years |
| Age at visit: 35 years |
| OD | OS | ||
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| OD | OS | ||
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| OD | OS | ||
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| OD | OS | ||
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| Age at visit: 35 years (Visit 2) |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 36 years (Visit 2) |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
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| OD | OS | ||
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| OD | OS | ||
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| Age at visit: 37 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 38 years |
| OS | |||
|---|---|---|---|
| Age at visit: 39 years |
| Age at visit: 41 years |
| Age at visit: 43 years |
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Posterior Column Ataxia with Retinitis Pigmentosa | FLVCR1 | Ala283Pro GCT>CCT | IVS9+1 del4tGTAA | AR |