Congenital-onset central chorioretinal dystrophy associated with high myopia

Eye (Lond). 1998:12 ( Pt 2):260-5. doi: 10.1038/eye.1998.61.


We describe six siblings of a 12-member sibship affected with a macular dystrophy that is congenital in onset and is associated with progressive myopia. The age of these siblings ranged from 7 months to 19 years. The presenting feature was visual impairment and the best corrected visual acuity ranged between 1/60 and 6/36. Myopia ranged from -3.00 dioptres in the youngest to -10.50 dioptres in the second-eldest member. The macular lesions in our patients are characterised by a well-defined area of atrophy of choriocapillaris and retinal pigment epithelium. These lesions progressed with age in both size and depth. The extent of choroidal involvement in the lesions varied from only loss of superficial vasculature to sparing of large choroidal vessels as confirmed by fundus fluorescein angiography. One patient also exhibited bilateral Duane's syndrome (type III) and right unilateral ptosis. To the best of our knowledge such a fully established macular lesion presenting at the age of 6 months and associated with progressive myopia has never been described in literature.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Choroid Diseases / congenital*
  • Choroid Diseases / genetics
  • Disease Progression
  • Female
  • Fluorescein Angiography
  • Fundus Oculi
  • Genes, Recessive
  • Humans
  • Infant
  • Macular Degeneration / congenital*
  • Macular Degeneration / genetics
  • Male
  • Myopia / genetics*
  • Pedigree