Giant Retinal Tear Detachments in Nonsyndromic LEPREL1 Mutations Mimicking Ocular Stickler Syndrome

Abstract

Purpose : To describe the ocular features and characteristics of retinal detachment in high myopia associated with mutations in LEPREL1 gene.

Methods : Retrospective chart review including details of ocular history, ophthalmic examination, multimodal imaging and surgical interventions were obtained during a mean duration of 9.1 ± 4.8 years.

Results : 20 eyes of 10 patients were included. 2 patients were males and 8 patients were females. Mean age of the patients was 18.6 ± 5.5 years followed up for 9.1 ± 4.8 years. Mean axial length was 28.9 ± 1.9 mm and mean refraction was - 13.9 ± 2.8 diopters. BCVA on presentation was 0.62 ± 0.65 (Snellen = 20/80) and on last follow up was 0.45 ± 0.69 (Snellen = 20/50). Anterior segment examination revealed posterior subcapsular cataract in 16 eyes (80%) and associated with temporal lens subluxation in 5 eyes (25%). 6 eyes of 5 patients (50%) developed retinal detachments (RD) at age of 11 ± 3.2 years. All eyes (100%) with retinal detachment had giant retinal tears (GRT). Anatomical reattachment was achieved in 5 out of 6 eyes. No significant difference was found in axial length or cycloplegic refraction between eyes with and without RD (P= 0.897 and 0.861 respectively). Previous lensectomy with PCIOL was not associated with higher risk of RD (P= 0.550).

Conclusions : LEPREL1-related high myopia confers a high risk of early-onset RD associated with giant retinal tears. Surgical interventions can achieve good anatomical and visual outcomes in these patients. This phenotype mimics the ocular features of Stickler syndrome.

This is a 2021 ARVO Annual Meeting abstract.