A 6-year-old boy with Cornelia de Lange syndrome and Coats disease: case report and review of the literature.
Cornelia de Lange syndrome (CdLS) can result in multiple congenital abnormalities and numerous ocular findings. We report the case of a 6-year-old boy with history of CdLS who presented with Coats disease. The findings in this case are compared to those found in the two previously reported cases of concomitant CdLS and Coats disease. The low incidence of these two disorders makes it highly unlikely that the connection is random in these 3 cases. The number of patients with both Cornelia de Lange syndrome and Coats disease is likely underestimated due to the difficulty in examining the peripheral retina in this patient population.
Department of Ophthalmology, University of Michigan, Ann Arbor, Michigan. Electronic address: andrewstacey@gmail.com.
Andrew W
AW
Stacey
Unit of Ophthalmology, University of Siena, Policlinico Santa Maria alle Scotte, Siena, Italy.
Cristina
C
Sparagna
Unit of Ophthalmology, University of Siena, Policlinico Santa Maria alle Scotte, Siena, Italy.
Melissa
M
Borri
Unit of Ophthalmology, Santa Chiara Hospital, Pisa, Italy.
Stanislao
S
Rizzo
Unit of Ophthalmology, University of Siena, Policlinico Santa Maria alle Scotte, Siena, Italy.
Theodora
T
Hadjistilianou
D020533:Angiogenesis Inhibitors / Q000627:therapeutic use; D000068258:Bevacizumab / Q000627:therapeutic use; D002648:Child; D003635:De Lange Syndrome / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D005122:Exudates and Transudates; D006801:Humans; D058449:Intravitreal Injections; D008297:Male; D012163:Retinal Detachment / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000209:etiology*; D058456:Retinal Telangiectasis / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D014463:Ultrasonography; D042461:Vascular Endothelial Growth Factor A / Q000037:antagonists & inhibitors; D014792:Visual Acuity / Q000187:drug effects
D020533:Angiogenesis Inhibitors; C467484:VEGFA protein, human; D042461:Vascular Endothelial Growth Factor A; D000068258:Bevacizumab