Multimodal imaging of ring 14 syndrome associated maculopathy

Huber M. Vasconcelos, Mauricio E. Vargas, Mark E. Pennesi

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Background: Ring 14 syndrome is a rare chromosomal disorder characterized by a ring-shaped appearance of chromosome 14. Classically findings include distinct facial characteristics, refractory epilepsy, global development delay, muscular hypotonia and ocular abnormalities. Here we report a retinal multimodal imaging analyses of a ring chromosome 14 syndrome patient with associated macular pigmentary changes. Materials and Methods: Case report of an 11-year-old female with a history of refractory epilepsy since 3 months of age was diagnosed with ring 14 syndrome after karyotype at 8 months old. She presented with muscle weakness, mild intellectual delay, associated hyperopia and punctiform yellowish lesions. Multimodal imaging including fundus photography, red-free fundus photography, fundus auto-fluorescence and spectral-domain optical coherence tomography were used to assess this patient. Results: An 11-year-old female with ring 14 syndrome caused by the fusion of terminal breakpoints in both the short arm and long arm of chromosome 14 at p11.1 and q32.3, respectively. At eye exam, the best corrected visual acuity was 20/20 at both eyes with associated hyperopia. Macula showing scattered punctiform yellowish lesions, bright on red-free fundus photography and hyperautofluorescence dots in the same area. The SD-OCT showed normal characteristics at both eyes with the exception of localized irregularity of the RPE in an area associated with a macular yellow dots. Conclusions: Ring 14 syndrome can cause hyperopia and associated macular yellow dots visible at multimodal imaging analyses. Our data support regular eye examination for all patients with ring chromosome 14 syndrome.

Original languageEnglish (US)
Pages (from-to)541-544
Number of pages4
JournalOphthalmic Genetics
Issue number6
StatePublished - Nov 2 2019


  • Ring 14 syndrome
  • chromosome syndrome
  • inherited retinal diseases
  • macular yellow dots
  • multimodal imaging

ASJC Scopus subject areas

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


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