SR160

Posterior Column Ataxia with Retinitis Pigmentosa (IB7a)

Male

Male

SR160

Posterior Column Ataxia with Retinitis Pigmentosa (IB7a)

Male

Male

Highlighted Images

Age at visit: 36 years (Visit 2)
OD OS

History

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

Pedigree

Teaching Points

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: 26 years
Age at visit: 28 years
Age at visit: 32 years
Age at visit: 34 years
Age at visit: 35 years
Age at visit: 35 years (Visit 2)
Age at visit: 36 years
Age at visit: 36 years (Visit 2)
Age at visit: 37 years
Age at visit: 38 years
Age at visit: 39 years
Age at visit: 41 years
Age at visit: 43 years

Diagnosis & molecular findings

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
Gene:
Allele 1:
Ala283Pro GCT>CCT
Allele 2:
IVS9+1 del4tGTAA
Inheritance:
AR
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