[Genetic and molecular characterization of 148 patients with autosomal dominant retinitis pigmentosa (ADRP)]

Arch Soc Esp Oftalmol. 2002 Sep;77(9):481-4.
[Article in Spanish]


Objective: Genetic characterization of a series of patients with autosomal dominant retinitis pigmentosa (ADRP).

Methods: All patients underwent complete ophthalmological examination including computerized perimetry, electroretinography and occasionally fluorescein angiography. Blood samples were drawn for genetic analysis of candidate genes namely rhodopsin (RHO), peripherin-RDS, ROM-1, CRX, RP1 and NRL.

Results: 148 ADRP index cases were examined at our hospital from June 1991 to September 2001. Genetic analysis detected the following mutations: 29 different families (19.5%) carried a RHO mutation among which the Pro-347-Leu was the most frequent one, five different RP-1 mutations (3.3%), 2 RDS mutations and one NRL mutation, which is the second reported in the world literature.

Conclusions: RHO followed by RP1 are the most frequent ADRP-causing genes in our series as in other published ones, and RDS causes mainly macular dystrophies. Molecular characterization was possible in 37 families (25%) which is of great interest for visual prognosis and genetic counselling.

MeSH terms

  • Amino Acid Substitution
  • Basic-Leucine Zipper Transcription Factors
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics
  • Eye Proteins / genetics*
  • Genes, Dominant
  • Homeodomain Proteins / genetics
  • Humans
  • Intermediate Filament Proteins / genetics
  • Membrane Glycoproteins*
  • Membrane Proteins / genetics
  • Microtubule-Associated Proteins
  • Mutation*
  • Mutation, Missense
  • Nerve Tissue Proteins / genetics
  • Peripherins
  • Point Mutation
  • Retinitis Pigmentosa / blood
  • Retinitis Pigmentosa / genetics*
  • Retinitis Pigmentosa / pathology
  • Rhodopsin / genetics
  • Tetraspanins
  • Trans-Activators / genetics


  • Basic-Leucine Zipper Transcription Factors
  • DNA-Binding Proteins
  • Eye Proteins
  • Homeodomain Proteins
  • Intermediate Filament Proteins
  • Membrane Glycoproteins
  • Membrane Proteins
  • Microtubule-Associated Proteins
  • NRL protein, human
  • Nerve Tissue Proteins
  • PRPH protein, human
  • PRPH2 protein, human
  • Peripherins
  • ROM1 protein, human
  • RP1 protein, human
  • Tetraspanins
  • Trans-Activators
  • cone rod homeobox protein
  • Rhodopsin