Wölfflin nodules and Brushfield spots were described essentially in light colored irides. The purpose of our study is to determine if these iris features are also present in dark irides, hidden by melanin granules of the anterior leaf of the iris. We examined iris images, taken with standard visible white, as well as with near-infrared light of children with Down syndrome and without. Using white light, Brushfield spots were seen in 21% of children with Down syndrome, and Wölfflin nodules in 12% of controls (p < 0.001), all noted in those with lightly colored irides. Brushfield spots were detected in 67% of children with Down syndrome using near-infrared light compared to 21% using white light (p < 0.001). Wölfflin nodules were detected in 19% of controls using near-infrared light compared to 12% using white light. Peripheral iris thinning was present in 63% of children with Down syndrome but in only 23% of those without (p = 0.001). Contraction furrows were less frequent in children with Down syndrome (16%) compared to controls (74%)(p < 0.001). Near-infrared light unveils Brushfield spots and Wölfflin nodules in dark irides. Clearing this discrepancy should assist in the elucidation of their pathophysiologic origin. A high prevalence of peripheral iris thinning is also present in children with Down syndrome along with a heretofore unreported reduction in iris contraction furrows.
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http://dx.doi.org/10.1038/s41598-018-36348-6 | DOI Listing |
J Glaucoma
May 2021
Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa.
Down syndrome is a genetic disease caused by trisomy of chromosome 21 that is characterized by numerous systemic abnormalities including intellectual disability, stereotypical facies, and congenital heart malformations. Ocular abnormalities are commonly seen with Down syndrome including corneal disease (keratoconus), refractive error, and atypical irides (Brushfield spots). We report the first case of aqueous misdirection in a patient with Down syndrome after trabeculectomy.
View Article and Find Full Text PDFSci Rep
December 2018
Erasmus Hospital, Université Libre de Bruxelles, Brussels, Belgium.
Wölfflin nodules and Brushfield spots were described essentially in light colored irides. The purpose of our study is to determine if these iris features are also present in dark irides, hidden by melanin granules of the anterior leaf of the iris. We examined iris images, taken with standard visible white, as well as with near-infrared light of children with Down syndrome and without.
View Article and Find Full Text PDFOphthalmic Epidemiol
April 2015
Private polyclinic "Medika plus," Skopje , Macedonia .
Purpose: To investigate whether different types of ocular manifestations are associated with congenital heart disease (CHD) in a large Caucasian population of children and young adults with Down syndrome (DS).
Methods: Population-based, case-control study which included 185 subjects with DS (mean age 13.2 ± 7.
JAMA Ophthalmol
August 2013
Department of Clinical Genetics, National Research Centre, Cairo, Egypt.
Importance: The study establishes the importance of genetic background for the expression of Down syndrome phenotype.
Objective: To define the ocular manifestations of Down syndrome in infants and children in Cairo, Egypt, a historically isolated region, and compare them with systemic features and with findings in other geographic groups.
Design And Participants: We prospectively studied the ocular status and systemic features of 90 infants and children with Down syndrome and monitored all patients for 3 years.
Br J Ophthalmol
April 2013
Department of Ophthalmology, Queen Mary Hospital, Pokfulam, Hong Kong SAR, China.
Background/aims: This was a cross-sectional survey to find the prevalence of visual impairment and eye diseases among adults with Down syndrome (DS) in Hong Kong.
Methods: 91 DS patients over the age of 30 were recruited through the Hong Kong Down Syndrome Association. Each patient was provided with a complete ophthalmological assessment including best corrected visual acuity, refraction, slit lamp and fundus examination.
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