Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review

• Published in: Ophthalmic genetics 2020-05, Vol.41 (3), p.223-234
• Main Authors: Boysen, Kirstine B., La Cour, Morten, Kessel, Line
• Format: Article
• Language: English
• Subjects: Arthritis - genetics; Arthritis - pathology; Arthritis - prevention & control; Arthroophthalmopathy; cataract; Collagen Type II - genetics; Collagen Type XI - deficiency; Collagen Type XI - genetics; Connective Tissue Diseases - genetics; Connective Tissue Diseases - pathology; Connective Tissue Diseases - prevention & control; Cryotherapy; glaucoma; Hearing Loss, Sensorineural - genetics; Hearing Loss, Sensorineural - pathology; Hearing Loss, Sensorineural - prevention & control; Humans; Laser Therapy; Mutation; myopia; ocular complications; prophylactic treatment; retinal detachment; Retinal Detachment - genetics; Retinal Detachment - pathology; Retinal Detachment - prevention & control; stickler Syndrome; systematic review; Vitreous Detachment - genetics; Vitreous Detachment - pathology; Vitreous Detachment - prevention & control
• ISSN: 1381-6810; 1744-5094
• DOI: 10.1080/13816810.2020.1747092

Stickler syndrome is a collagenopathy caused by mutations in the genes COL2A1 (STL1) or COL11A1 (STL2). Affected patients manifest ocular, auditory, articular, and craniofacial manifestations in varying degrees. Ocular symptoms include myopia, retinal detachment, cataract, and glaucoma. The aim of this systematic review was to evaluate the prevalence of ocular manifestations and the outcome of prophylactic treatment on reducing the risk of retinal detachment. A systematic literature search was performed in the PubMed database. Information on the cross-study prevalence of myopia, retinal detachment, cataract, glaucoma, visual impairment, severity and age of onset of myopia and retinal detachments. Studies that reported on the outcome of prophylactic treatment against a control group were explored. 37 articles with 2324 individual patients were included. Myopia was found in 83% of patients, mostly of a moderate to severe degree. Retinal detachments occurred in 45% of patients. Generally, the first detachment occurred in the second decade of life in STL1 patients and later in STL2. Cataracts were more common in STL2 patients, 59% versus 36% in STL1. Glaucoma (10%) and visual impairment (blind: 6%; vision loss in one eye: 10%) were rare. Three studies reported on the effect of prophylactic treatment being protective. Ocular manifestations are common in Stickler patients, but the comparison between studies was difficult because of inconsistencies in diagnostic and inclusion criteria by different studies. Sight-threatening complications such as retinal detachments are common but although prophylactic therapy is reported to be effective in retrospective studies, evidence from randomized trials is missing.