Association of p.P347L in the rhodopsin gene with early-onset cystoid macular edema in patients with retinitis pigmentosa

Ophthalmic Genet. 2012 Jun;33(2):96-9. doi: 10.3109/13816810.2011.642453. Epub 2012 Jan 4.


Purpose: To describe early-onset cystoid macular edema (CME) in a family with retinitis pigmentosa (RP) due to the p.P347L in the rhodopsin gene (RHO).

Methods: All affected family members, including a 44-year-old mother and four children in their teens (two daughters, 17 and 15 years old, and two sons, 13 and 11 years old), have a mutation of p.P347L in RHO. Funduscopy, Goldmann perimetry, spectral domain optical coherence tomography (SD-OCT) and electroretinogram (ERG) were performed in all affected members to assess the retinal anatomy and function.

Results: The mother had very poor visual acuity of light perception in both eyes, and marked foveal atrophy was observed via SD-OCT. Although the macular appearance in the funduscopy looked unremarkable in the four children, SD-OCT revealed bilateral CME in all the children. The rod response in ERG was extinguished and the cone response was decreased in all children.

Conclusion: The results present the possibility that CME in RP patients may be associated with a specific genotype such as the p.P347L in RHO. We speculate that the severe visual prognosis of this mutation may be related to early-onset CME, as shown in this family. However, further investigation in more RP patients with this mutation and CME will be needed.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • DNA Mutational Analysis
  • Electroretinography
  • Female
  • Genotype
  • Humans
  • Macular Edema / diagnosis
  • Macular Edema / genetics*
  • Macular Edema / physiopathology
  • Male
  • Mutation*
  • Pedigree
  • Photoreceptor Cells, Vertebrate / physiology
  • Polymerase Chain Reaction
  • Retinitis Pigmentosa / diagnosis
  • Retinitis Pigmentosa / genetics*
  • Retinitis Pigmentosa / physiopathology
  • Rhodopsin / genetics*
  • Tomography, Optical Coherence
  • Visual Acuity / physiology
  • Visual Field Tests


  • Rhodopsin