Abstract
Purpose :
While it is known that patients with generalized retinal dystrophy are less likely to develop diabetic retinopathy (DR)[JO1] , no prior study in West Virginia has investigated prevalence and severity[JO2] of DR in patients with confirmed molecular diagnosis of inherited retinal diseases (IRD). We performed a retrospective chart review of diabetic IRD patients to determine the prevalence of diabetic retinopathy.
Methods :
We identified 415 patients with IRD seen at the West Virginia University Eye Institute between January 2010 and November 2021. 27 of these patients had diabetes (12 males and 15 females of ages 34-85). All 27 had confirmed molecular diagnosis of IRD in themselves or an affected family member.. Their molecular diagnosis, clinical findings, laboratory values, retinal images, and electrodiagnostic tests were reviewed.
Results :
Three of the 27 IRD patients with diabetes (11%) were identified to have DR.
A 70-year-old male with type 2 DM and IMPG2 mutation with vitelliform maculopathy presented with moderate NPDR in both eyes. Visual acuity (VA) was 20/40 in both eyes.
A 60-year-old male with type 2 DM and PRDM13 mutation with North Carolina macular dystrophy presented with bilateral tractional retinal detachment with final VA of HM and LP.
A 47-year-old female with type 1 DM and XLRP [RP2] developed tractional retinal detachment bilaterally. Final VA was 20/400 and 20/25.
Conclusions :
DR is less frequently observed in diabetic IRD patients with prevalence of 11%, compared to 28.5% in general population. Despite the lower prevalence, it is important to monitor diabetic IRD patients for DR, particularly female XLRP patients or North Carolina macular dystrophy patients.
This abstract was presented at the 2022 ARVO Annual Meeting, held in Denver, CO, May 1-4, 2022, and virtually.