Journal of Clinical and Experimental Ophthalmology
Open Access

Isabelle Audo

Publications

• Research Article
  Patients with Retinitis Pigmentosa due to RP1 Mutations Show Greater Severity in Recessive than in Dominant Cases
  Author(s): Christian P. HamelChristian P. Hamel
  
  Study background: RP1 is a major gene for autosomal dominant retinitis pigmentosa and was reported in a few recessive families. Taken together, patients with RP1 mutations of both types of inheritance show a large spectrum in the severity of the disease. To get better insight in these clinical variations, patients with dominant and recessive retinitis pigmentosa due to RP1 mutations were investigated and their clinical features were compared. Methods: RP1 exons 2 and 3 were sequenced in 324 unrelated patients with presumed recessive retinitis pigmentosa (213 simplex, 68 multiplex) or cone rod dystrophy (27 simplex, 16 multiplex) and RP1 exon 4 hot spot (nt 1500-3216) was sequenced in 174 probands with dominant retinitis pigmentosa. Visual acuity and visual field were correlated with age using Pearson’s .. View More»
  

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