Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review
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Ocular complications and prophylactic strategies in Stickler syndrome : a systematic literature review. / Boysen, Kirstine B.; La Cour, Morten; Kessel, Line.
In: Ophthalmic Genetics, Vol. 41, No. 3, 04.2020, p. 223-234.Research output: Contribution to journal › Review › Research › peer-review
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TY - JOUR
T1 - Ocular complications and prophylactic strategies in Stickler syndrome
T2 - a systematic literature review
AU - Boysen, Kirstine B.
AU - La Cour, Morten
AU - Kessel, Line
PY - 2020/4
Y1 - 2020/4
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.
AB - 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.
KW - Arthroophthalmopathy
KW - cataract
KW - glaucoma
KW - myopia
KW - ocular complications
KW - prophylactic treatment
KW - retinal detachment
KW - stickler Syndrome
KW - systematic review
U2 - 10.1080/13816810.2020.1747092
DO - 10.1080/13816810.2020.1747092
M3 - Review
C2 - 32316871
AN - SCOPUS:85083693416
VL - 41
SP - 223
EP - 234
JO - Ophthalmic Genetics
JF - Ophthalmic Genetics
SN - 1381-6810
IS - 3
ER -
ID: 244239720