Ophthalmologica · 2010 · 14 citations · 0 references
MedicineGeneticsOphthalmologyCytogeneticsHuman GeneticsPediatric OphthalmologyCongenital Eye AnomaliesGenetic DisordersPediatric Eye DiseasePediatric Retinal DisordersRetinal DisordersRetinal Vascular DiseaseCongenital Ocular DiseaseCongenital Retinal DisordersDevelopmental Retinal DisordersGenetic Eye DisordersHereditary EsotropiaHereditary Retinal DiseaseInherited Ocular DiseaseInherited Ocular Disorders
A case of 11q- syndrome associated with abnormalities of the retinal vessels similar to those of familial exudative vitreoretinopathy was followed from 6 months to 3 years of age. The patient was a female infant born at 39 weeks of gestation and weighing 2,360 g without oxygen therapy. A chromosomal analysis showed a 46,XX,del(11)(q23.3). An ocular examination revealed exotropia and a positive kappa angle of the left eye with psychomotor retardation. An abnormal pattern of the retinal vessels and an avascular retina was observed in the periphery of both eyes. Therefore we concluded that the abnormalities of the retinal vessels may be related to the deletion of the long arm of chromosome 11.