Abstract
Purpose :
Describing axial length (AL), lattice degeneration (LD), and retinal detachment (RD) in patients with Stickler syndrome (SS) in a cross-sectional study.
Methods :
We included SS patients through genetic departments, ophthalmology departments, and the centers for rare diseases in Denmark. Exclusion criteria were missing genetic confirmation and age under 4 years. All patients underwent AL measurement (Zeiss IOLMaster 700), fundus wide-field imaging (Zeiss Clarus 500) and slit lamp examination. RD status was obtained by medical record review. When analyzing the data on LD, eyes with previous RD or prophylactic laser therapy were excluded.
Results :
We included 49 patients (95 eyes), all had genetically confirmed SS (SLT1:39; STL2: 10). Mean age was 35 years (range: 4 - 81 years). Mean AL for the right eye was 25.78 mm (range: 22.22 - 32.89 mm), with no difference between right and left eye (p = 0.837). RD had occured in 23.5% of eyes (8 patients bilateral; 7 unilateral). Median age for RD was 21 years (range: 6 to 44 years). AL did not influence the risk of RD (p = 0.665). LD was found in 55 % of eyes. There was no influence of AL on LD (p = 0.608). We did find that the odds for LD increase with 5% for every year of age (p = 0.004).
Conclusions :
Our results are interesting as SS is widely associated with high myopia and consensus on who would benefit from prophylactic treatment for RD is missing. Normal AL is 23-25 mm, our mean AL was 25.75 mm and our range included eyes as short as 22.22 mm, highlighting that the SS diagnosis should not be excluded in the absence of high myopia. We find that there was no association between AL and RD or AL and LD, contradicting that only myopic SS patients have RD. We did find an increased odds ratio for LD with increasing age, which can be attributed to the underlying pathophysiology. We found a high prevalence of LD (55%). LD is not thoroughly investigated in current literature and is often thought of as less common and with late appearance. We believe further research on LD and its association with RD is necessary. We did not account for clustering in our current data, which we aim to do in the future. Our study's design waves the bias of overestimating ophthalmological complications, which is reflected in our results for AL and the low prevalence of RD.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.