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Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review.
Ophthalmic Genet. 2020 06; 41(3):223-234.OG

Abstract

BACKGROUND

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.

METHOD

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.

RESULTS

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.

CONCLUSION

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.

Authors+Show Affiliations

Department of Ophtalmology, Rigshospitalet , Glostrup, Denmark.Department of Ophtalmology, Rigshospitalet , Glostrup, Denmark. Department of Clinical Medicine, University of Copenhagen , Copenhagen, Denmark.Department of Ophtalmology, Rigshospitalet , Glostrup, Denmark. Department of Clinical Medicine, University of Copenhagen , Copenhagen, Denmark.

Pub Type(s)

Journal Article
Systematic Review

Language

eng

PubMed ID

32316871

Citation

Boysen, Kirstine B., et al. "Ocular Complications and Prophylactic Strategies in Stickler Syndrome: a Systematic Literature Review." Ophthalmic Genetics, vol. 41, no. 3, 2020, pp. 223-234.
Boysen KB, La Cour M, Kessel L. Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review. Ophthalmic Genet. 2020;41(3):223-234.
Boysen, K. B., La Cour, M., & Kessel, L. (2020). Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review. Ophthalmic Genetics, 41(3), 223-234. https://doi.org/10.1080/13816810.2020.1747092
Boysen KB, La Cour M, Kessel L. Ocular Complications and Prophylactic Strategies in Stickler Syndrome: a Systematic Literature Review. Ophthalmic Genet. 2020;41(3):223-234. PubMed PMID: 32316871.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review. AU - Boysen,Kirstine B, AU - La Cour,Morten, AU - Kessel,Line, Y1 - 2020/04/21/ PY - 2020/4/23/pubmed PY - 2021/4/7/medline PY - 2020/4/23/entrez KW - Arthroophthalmopathy KW - cataract KW - glaucoma KW - myopia KW - ocular complications KW - prophylactic treatment KW - retinal detachment KW - stickler Syndrome KW - systematic review SP - 223 EP - 234 JF - Ophthalmic genetics JO - Ophthalmic Genet VL - 41 IS - 3 N2 - BACKGROUND: 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. METHOD: 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. RESULTS: 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. CONCLUSION: 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. SN - 1744-5094 UR - https://www.unboundmedicine.com/medline/citation/32316871/Ocular_complications_and_prophylactic_strategies_in_Stickler_syndrome:_a_systematic_literature_review_ L2 - https://www.tandfonline.com/doi/full/10.1080/13816810.2020.1747092 DB - PRIME DP - Unbound Medicine ER -