Macular neovascularization in inherited retinal diseases: A review

Surv Ophthalmol. 2024 Jan-Feb;69(1):1-23. doi: 10.1016/j.survophthal.2023.07.007. Epub 2023 Aug 6.


Inherited retinal diseases (IRDs) are the most common cause of blindness in working-age adults. Macular neovascularization (MNV) may be a presenting feature or occurs as a late-stage complication in several IRDs. We performed an extensive literature review on MNV associated with IRDs. MNV is a well-known complication of Sorsby fundus dystrophy and pseudoxanthoma elasticum. Those with late-onset Stargardt disease may masquerade as exudative age-related macular degeneration (AMD) when MNV is the presenting feature. Peripherinopathies may develop MNV that responds well to a short course of anti-vascular endothelial growth factor (anti-VEGF) therapy, while bestrophinopathies tend to develop MNV in the early stages of the disease without vision loss. Enhanced S-cone syndrome manifests type 3 MNV that typically regresses into a subfoveal fibrotic nodule. MNV is only a rare complication in choroideraemia and rod-cone dystrophies. Most IRD-related MNVs exhibit a favorable visual prognosis requiring less intensive regimens of anti-vascular endothelial growth factor therapy compared to age-related macular degeneration. We discuss the role of key imaging modalities in the diagnosis of MNV across a wide spectrum of IRDs and highlight the gaps in our knowledge with respect to the natural history and prognosis to pave the way for future directions of research.

Keywords: Autosomal recessive bestrophinopathy; Choroidal neovascular membrane; Doyne honeycomb retinal dystrophy; Late-onset retinal degeneration; Macular dystrophy; Peripherinopathy; Pseudoxanthoma elasticum; Retinitis pigmentosa; Sorsby fundus dystrophy; Stargardt disease.

Publication types

  • Review

MeSH terms

  • Adult
  • Choroidal Neovascularization*
  • Endothelial Growth Factors
  • Fluorescein Angiography
  • Humans
  • Macular Degeneration* / complications
  • Macular Degeneration* / diagnosis
  • Neovascularization, Pathologic
  • Retina
  • Retinal Degeneration* / complications
  • Retinal Neovascularization* / complications
  • Retrospective Studies
  • Tomography, Optical Coherence


  • Endothelial Growth Factors