Mutational analysis and clinical correlation in Leber congenital amaurosis

S. Dharmaraj, E. Silva, A. L. Pina, Y. Y. Li, J. M. Yang, R. C. Carter, H. El-Hilali, E. Traboulsi, O. Sundin, D. Zhu, R. K. Koenekoop, I. H. Maumenee

Research output: Contribution to journalArticlepeer-review

82 Scopus citations


Leber congenital amaurosis (LCA, MIM 204001) is a clinically and genetically heterogeneous retinal disorder characterized by severe visual loss from birth, nystagmus, poor pupillary reflexes, retinal pigmentary or atrophic changes, and a markedly diminished electroretinogram (ERG). Purpose: To examine 100 consecutive patients with LCA in order to assess the relative burden of the three known genes involved in LCA, namely retinal guanylyl cyclase (GUCY2D), retinal pigment epithelium protein (RPE65), and the cone-rod homeobox (CRX), and to define their clinical correlates. Methods: Mutational analysis and detailed clinical examinations were performed in patients diagnosed with LCA at the Johns Hopkins Center for Hereditary Eye Diseases and the Montreal Children's Hospital. Results: Mutations were identified in 11% of our patients: GUCY2D mutations accounted for 6%, while RPE65 and CRX gene mutations accounted for 3% and 2%, respectively. The clinical presentation was variable; however, the visual evolution in patients with mutations in GUCY2D and CRX remained stable, while individuals with mutations in the RPE65 gene showed progressive visual loss. Conclusions: This study suggests that molecular diagnosis of Leber congenital amaurosis could provide important information concerning prognosis and course of treatment.

Original languageEnglish (US)
Pages (from-to)135-150
Number of pages16
JournalOphthalmic genetics
Issue number3
StatePublished - 2000
Externally publishedYes


  • Heterogeneity
  • Leber congenital amaurosis
  • Mutations
  • Phenotype-genotype correlation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)


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