LEPREL1-related Giant Retinal Tear Detachments Mimic the Phenotype of Ocular Stickler Syndrome.

Moustafa S MagliyahFaisal AlMarekSawsan R NowilatyLama Al-AbdiFowzan S AlkurayaMohammed AlowainPatrik SchatzTalal AlfaadhelArif O KhanSulaiman M Alsulaiman

Published in: Retina (Philadelphia, Pa.) (2022)

LEPREL1-related high myopia confers a high risk of early-onset GRT-related RRD. The ocular phenotype may be confused with that of ocular Stickler syndrome if genetic testing is not performed. Further investigations into a potential association with renal dysfunction are warranted.

Keyphrases

early onset
optic nerve
case report
oxidative stress
diabetic retinopathy