Age at visit: 36 years (Visit 2) | |
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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 |
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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 |
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Age at visit: 35 years (Visit 2) |
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Age at visit: 36 years (Visit 2) |
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Age at visit: 37 years |
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Age at visit: 38 years |
OS | |||
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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 |
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Posterior Column Ataxia with Retinitis Pigmentosa | FLVCR1 | Ala283Pro GCT>CCT | IVS9+1 del4tGTAA | AR |