Shwetha Mangalesh1, Anand Vinekar1, Chaitra Jayadev1, Vasudha Kemmanu2, Meenakshi Bhat3, Munusamy Sivakumar1, Noel Bauer4, Carol Webers4, Bhujang Shetty5. 1. a Department of Pediatric Retina, Narayana Nethralaya Eye Institute , Bangalore , India. 2. b Department of Pediatric Ophthalmology, Narayana Nethralaya Eye Institute , Bangalore , India. 3. c Center for Human Genetics , Bangalore , India. 4. d Faculty of Ophthalmology, Maastricht University , Netherlands. 5. e Department of Ophthalmology, Narayana Nethralaya Eye Institute , Bangalore , India.
Abstract
Purpose: Trisomy 21, also known as Down syndrome (DS), is the most common trisomy worldwide. Although ocular associations have been reported, retinal anatomy and pathology remain uninvestigated. We evaluate the role of spectral domain optical coherence tomography (SD-OCT) in analyzing foveal morphology of children with DS. Methods: Nineteen consecutive DS children and eight controls were enrolled under a cross-sectional study in an institutional practice. All subjects underwent SD-OCT imaging on a hand-held device. The morphology and thickness of central fovea, inner retinal layers, outer retina, and photoreceptor layers were measured and compared with age-group sub-analysis. Results: Mean age of the cases was 24 months (3-78 months). All cases and controls had a normal fundus on ophthalmoscopy and foveal thickness was comparable (p = 0.718). Inner retinal fusion was complete in the foveal center in only three eyes (15.8%) of cases compared to all eyes (100%) of controls (p < 0.001). The outer plexiform layer was normal in 10 eyes of cases (52.6%) compared to all eyes (100%) of the controls. Only 10 eyes of DS (52.6%) had a normal external limiting membrane, compared to all eyes of controls (100%, p = 0.01). The interdigitation zone (outer segment) was normal in one (5.3%) case compared to eight (67%) controls (p = 0.001). On subgroup analysis, in older cohorts, cases had a greater proportion of abnormal layers compared to controls. Visual acuity was found to be lower in cases when compared to controls, although not significant (p = 0.19). Conclusion: DS babies have abnormal foveal morphology and persistence of inner retinal layers. This may assist our understanding of their visual development.
Purpose: Trisomy 21, also known as Down syndrome (DS), is the most common trisomy worldwide. Although ocular associations have been reported, retinal anatomy and pathology remain uninvestigated. We evaluate the role of spectral domain optical coherence tomography (SD-OCT) in analyzing foveal morphology of children with DS. Methods: Nineteen consecutive DS children and eight controls were enrolled under a cross-sectional study in an institutional practice. All subjects underwent SD-OCT imaging on a hand-held device. The morphology and thickness of central fovea, inner retinal layers, outer retina, and photoreceptor layers were measured and compared with age-group sub-analysis. Results: Mean age of the cases was 24 months (3-78 months). All cases and controls had a normal fundus on ophthalmoscopy and foveal thickness was comparable (p = 0.718). Inner retinal fusion was complete in the foveal center in only three eyes (15.8%) of cases compared to all eyes (100%) of controls (p < 0.001). The outer plexiform layer was normal in 10 eyes of cases (52.6%) compared to all eyes (100%) of the controls. Only 10 eyes of DS (52.6%) had a normal external limiting membrane, compared to all eyes of controls (100%, p = 0.01). The interdigitation zone (outer segment) was normal in one (5.3%) case compared to eight (67%) controls (p = 0.001). On subgroup analysis, in older cohorts, cases had a greater proportion of abnormal layers compared to controls. Visual acuity was found to be lower in cases when compared to controls, although not significant (p = 0.19). Conclusion: DS babies have abnormal foveal morphology and persistence of inner retinal layers. This may assist our understanding of their visual development.
Entities:
Keywords:
Sdoct; children; down syndrome; handheld; imaging; oct; retinal findings
Authors: Abid Haseeb; Elisah Huynh; Reem H ElSheikh; Ahmed S ElHawary; Christina Scelfo; Danielle M Ledoux; Daniel E Maidana; Abdelrahman M Elhusseiny Journal: Ther Adv Ophthalmol Date: 2022-06-30
Authors: James A Hendrix; Angelika Amon; Leonard Abbeduto; Stamatis Agiovlasitis; Tarek Alsaied; Heather A Anderson; Lisa J Bain; Nicole Baumer; Anita Bhattacharyya; Dusan Bogunovic; Kelly N Botteron; George Capone; Priya Chandan; Isabelle Chase; Brian Chicoine; Cécile Cieuta-Walti; Lara R DeRuisseau; Sophie Durand; Anna Esbensen; Juan Fortea; Sandra Giménez; Ann-Charlotte Granholm; Laura J Hahn; Elizabeth Head; Hampus Hillerstrom; Lisa M Jacola; Matthew P Janicki; Joan M Jasien; Angela R Kamer; Raymond D Kent; Bernard Khor; Jeanne B Lawrence; Catherine Lemonnier; Amy Feldman Lewanda; William Mobley; Paul E Moore; Linda Pollak Nelson; Nicolas M Oreskovic; Ricardo S Osorio; David Patterson; Sonja A Rasmussen; Roger H Reeves; Nancy Roizen; Stephanie Santoro; Stephanie L Sherman; Nasreen Talib; Ignacio E Tapia; Kyle M Walsh; Steven F Warren; A Nicole White; Guang William Wong; John S Yi Journal: Transl Sci Rare Dis Date: 2021-04-15