Rabiee B1,2 and Fishman GA1,2*
1Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, USA 2The Pangere Center for Inherited Retinal Diseases, The Chicago Lighthouse, USAFulltext PDF
Purpose: Macular Telangiectasia (MacTel) type 2 is an idiopathic condition characterized by juxtafoveolar telangiectatic vessels, retinal crystalline deposits, right-angle venules, and intraretinal pigment plaques. The purpose of this study was to report a case of MacTel type 2 with concomitant Down syndrome, and discuss the possibility of an association between these two conditions, backed up by previous studies on the diseases' metabolic abnormalities. Observations: A 33-year-old Caucasian male with Down syndrome, who presented with increasing visual difficulty in both near and distance, underwent a complete ophthalmic examination, color fundus photography, Optical Coherence Tomography (OCT) and near-infrared fundus reflectance imaging. Prominent clinical findings suggesting "MacTel," included bull’s eye-appearing hypopigmentary lesions in maculae, bilateral parafoveal pigment depositions, and bilateral right angle venules. Near-infrared reflectance imaging showed intraretinal telangiectasia, and OCT imaging showed bilateral disruption of the ellipsoid within the foveal region. Conclusion and Importance: A possible explanation for an association between MacTel type 2 and Down syndrome could be underlying peripheral neuropathy and degeneration due to genetic and metabolic abnormalities, defects in the serine/glycine metabolic pathways, as well as angiogenesis regulation system. A detailed and comprehensive retinal examination of Down syndrome patients could help further investigation on a possible association between these two diseases.
Macular telangiectasia type 2; Down syndrome; Juxtafoveal telangiectasis
Rabiee B, Fishman GA. Macular Telangiectasia Type 2 in Association with Down Syndrome. Ann Clin Case Rep. 2020; 5: 1809. ISSN: 2474-1655.