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 IJFT included bull’s eye-appearing hypopigmentary lesions in maculae, bilateral parafoveal pigment depositions, and bilateral right angle venules. Nearinfrared 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..