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Table 3 Clinical features of Spanish families with RP1 mutations

From: Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population

Mutation Family members Age (years) Onset of NB Onset ↓VFC Onset ↓VA Current VF Current VA Current ERG Funduscopy
K722fsX737 I-1 85 60 65 None Not done Not done Not done Typical RP
  II-2 59 50 49 None 10°central 0.6 BE Not detectable Typical RP
  II-3 58 43 46 50 10°central < < 0.1 BE Not detectable Typical RP + CME
  II-4 56 37 54 None 10°central 0.5 BE Not detectable Typical RP
Q686X I-1 83 69 74 69 10°central 0.2 BE R/M nd. & ↓↓ Typical RP
  II-1 60 None None None Normal 1.0 BE Normal Normal
  II-6 54 30 45 25 10°central 0.3 BE R/M & ↓↓ C N Typical RP
  III-6 29 None None None Normal 1.0 BE Normal Normal
  III-7 26 None None None Normal 1.0 BE Normal Normal
K705fsX712 II-1 73 None None None PC up VF 0.7/0.6 R nd & M/C↓ Normal
  III-1 46 Unknown Unknown Unknown PC Not done Not done Typical RP
  III-3 42 30 35 None 20°R/10°L 0.8/1 Not detectable Typical RP
  III-4 40 None None None Normal 1.0 BE Normal Normal
  III-5 39 None None None Normal 1.0 BE Normal Normal
  III-6 49 Unknown Unknown Unknown PC Not done Not done Typical RP
  III-11 41 None None None Normal 1.0 BE Normal Normal
  III-12 38 Unknown Unknown Unknown PC Not done Not done Typical RP
  III-14 39 None None None Normal 1.0 BE Normal Normal
  IV-1 11 None None None Normal 1.0 BE Normal Normal
  1. BE : Both Eyes; ERG : Electroretinogram; CME : Cystoid Macular edema; NB : Night blindness; PC upVF : Peripheral constriction of upper visual field; R nd & M/C↓ : Not detectable rod responses, impaired amplitude and delayed response of mixed and cones; R/M ↓↓ & C N : Impaired amplitude and delayed response of rods and mixed, normal cone response; R/M nd. & C↓↓ : Not detectable rod and mixed responses, impaired amplitude and delayed response of cones; Typical RP : Pale discs, attenuated vessels, bone-spicule intraretinal pigmentation; VA : Visual acuity; VF : Visual field; VFC : Visual field constriction.