Ocular fundus changes in patients with Down syndrome and pulmonary hypertension
Abstract
Purpose
The ocular and visual problems in Down syndrome are due to refractive errors, poor accomodation, strabismus, keratoconus, cataract, optic disc and retinal structural anomalies and brain changes. Pulmonary hypertension (PH) is associated with high mortality and morbidity and ocular complications may occur. PH associated central serous choroidopathy-like maculopathy, venous thrombosis and neovascular glaucoma have been described in case reports but no large studies of ocular complications are available. Improved non-invasive imaging with optical coherence tomography (OCT), enhanced depth OCT and OCT angiography without dye allow a detailed study of the retinal and optic disc changes.
Methods
A cross sectional study of 180 adult patients with PH included 9 Down patients with congenital heart disease. Age of the Down patients was 25–44 years. The fundus changes included PH associated and Down associated anomalies.
Results
PH associated mild changes included episcleral and retinal vein dilation and a thick choroid. None of the Down patients had severe complications of PH. The Down associated fundus changes included absence of optic disc cup, supranumerary optic cisc vessels,and structura lmacular anomalies with small capillary free zone. Two eyes were functionally lost due to complications of hydrops keratoconus.
Conclusions
Non-invasive imaging with OCT allows a detailed analysis of fundus changes in Down patients with or without PH.
