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Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen.

ABSTRACT: BACKGROUND/AIMS:The type II collagenopathies are a phenotypically diverse group of genetic skeletal disorders caused by a mutation in the gene coding for type II collagen. Reports published before the causative mutations were discovered suggest heritable bone dysplasias with skeletal malformations may be associated with a vitreoretinopathy. METHODS:A retrospective notes search of patients with a molecularly characterised type II collagenopathy chondrodysplasia who had been examined in the ophthalmology clinic was conducted. RESULTS:13 of 14 patients had a highly abnormal vitreous appearance. One patient aged 11 presented with a total retinal detachment. Two other children aged 2 and 4 had bilateral flat multiple retinal tears on presentation. 10 of 12 patients refracted were myopic. Two patients had asymptomatic lens opacities: one associated with bilateral inferiorly subluxed lenses and the other with a zonule and lens coloboma. CONCLUSION:Heritable skeletal disorders resulting from a mutation in the gene coding for type II collagen are associated with abnormal vitreous, myopia and peripheral cataract with lens subluxation. In bone dysplasias resulting from a defect of type II collagen there is likely to be a high risk of retinal detachment with a propensity to retinal tears at a young age.

SUBMITTER: Meredith SP

PROVIDER: S-EPMC1954906 | biostudies-literature | 2007 Sep

REPOSITORIES: biostudies-literature

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Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen.

Meredith Sarah P SP Richards Allan J AJ Bearcroft Philip P Pouson Arabella V AV Snead Martin P MP

The British journal of ophthalmology 20070308 9

<h4>Background/aims</h4>The type II collagenopathies are a phenotypically diverse group of genetic skeletal disorders caused by a mutation in the gene coding for type II collagen. Reports published before the causative mutations were discovered suggest heritable bone dysplasias with skeletal malformations may be associated with a vitreoretinopathy.<h4>Methods</h4>A retrospective notes search of patients with a molecularly characterised type II collagenopathy chondrodysplasia who had been examine ...[more]

PMID: 17347327

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Project description:BackgroundGeriatric ground level fall is a common admission diagnosis for trauma centers in the United States. Visual health has been linked to fall risk reduction in older adult but is rarely fully evaluated during a trauma admission. Using a commercial application and a questionnaire, we developed and tested a trauma provider eye examination (TPEE) to screen visual health. This study used the TPEE to (1) evaluate the prevalence of undiagnosed or undertreated visual disease in geriatric trauma patients and (2) determine the feasibility and reliability of the TPEE to screen for vision disease.MethodsThis prospective study included patients older than 60 years evaluated by the trauma service from June 2019 to May 2020. Patients with ocular or globe trauma were excluded. The primary outcome was significant abnormal vision (SAV) found using the TPEE. Ophthalmology performed a dilated examination as the criterion standard for comparison. We assessed the feasibility and reliability of the TPEE. Fisher's exact test and logistic model were used in the data analysis.ResultsEnrollment concluded with 96 patients. Mean age was 75 years, and fall (79%) was the most common mechanism of injury. Significant abnormal vision was common: undiagnosed disease was found in 39% and undertreated in 14%. Trauma provider examination was 94% sensitive and 92% specific for SAV cases. Congruence between TPEE and ophthalmology examination was highest in pupil examination (86%), visual fields (58%), and Amsler grid (52%). Multivariate analysis found that a combination of an abnormal Amsler test and abnormal visual field defect was significantly associated with SAV (odds ratio, 4.1; p = 0.03).ConclusionTrauma provider eye examination screening can identify patients with visual deficits. Given the association between visual deficits and fall risk, older adults may benefit from such a screening or a formal ophthalmology referral.Level of evidenceTherapeutic/Care Management, level II.

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Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen.

Publications

Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen.

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