Abstract
Purpose :
Primary hyperoxaluria type 1 (PH1) is a rare peroxisomal storage disease leading to severe oxalate accumulation in multiple organs. In case of end stage renal disease (ESRD) due to PH1 combined liver and kidney transplantation (CLKT) is the only curative treatment option. Children with infantile PH1 are at great risk of extra-renal complications like pathological bone fractures, cardiomyopathy and retinal oxalate accumulation. After CLKT systemic oxalosis decreases continuously. Whether oxalate retinopathy, which leads to severe visual impairment, is improving over time has yet to be determined.
Methods :
To characterize long term oxalate retinopathy we retrospectively analysed 13 patients who underwent a CLKT at our centre between 1998 and 2018 due to PH1. Visual acuity testing, slit lamp investigation, funduscopy, fundus photography and SD-OCT imaging were analyzed.
Results :
Fundus evaluation showed oxalate retinopathy (grade 2-4) in 8 of 9 children with infantile PH1 who needed renal replacement therapy (RRT) within the first 3 years of age while none of 4 patients with later ESRD and CLKT suffered from remarkable retinal findings. A significant negative correlation was found between age at need of RRT and grade of oxalate retinopathy. Longitudinal ophthalmic assessment revealed no regression of oxalate retinopathy despite long-term sufficient liver and kidney function.
Conclusions :
In conclusion, our data show that despite early CLKT oxalate retinopathy and the concomitant visual deterioration occurs prior transplantation and represents an irreversible retinal damage. Thus, more early treatment options to reduce retinal damage before transplantation need to be discussed.
This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.