Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2)

Ophthalmic Genet. 1999 Sep;20(3):161-72. doi: 10.1076/opge.


Purpose: To identify possible correlations between the putative mutations and the clinical characteristics in X-linked retinitis pigmentosa, RP2.

Design: A retrospective, descriptive clinical study.

Material: The ophthalmological files on affected persons from three Danish families with identified pathogenic mutations in the RP2 gene.

Results: Mutation analysis in 14 Danish families with X-linked retinitis pigmentosa revealed disease-associated sequence alterations in eight of them. Five mutations were detected in the RP3 gene (RPGR) and three in the RP2 gene. Genotype-phenotype comparison in the three RP2 families revealed striking interfamilial phenotypic differences. Severe phenotypes were associated with a null mutation Gln26stop and a missense mutation Arg118His. These families differed mutually with respect to retinal appearance. Affected carriers had a delayed onset by three decades. Tapetal reflexes were not observed in the carriers. An in-frame deletion DeltaSer6 was associated with a milder phenotype.

Conclusions: Interfamilial differences in RP2 phenotype might be related to the type and location of the mutational event. Due to a considerable overlap between RP2 and RP3 phenotypes, the genotype cannot safely be deduced from conventional clinical examination methods.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • DNA Mutational Analysis
  • Eye Proteins*
  • Female
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation
  • Pedigree
  • Phenotype
  • Proteins / genetics
  • Retinitis Pigmentosa / genetics*
  • Retrospective Studies
  • X Chromosome*


  • Eye Proteins
  • Proteins
  • RPGR protein, human

Associated data

  • GENBANK/AJ007590