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Felix Chau, Victor Villegas, Thasarat S Vajaranant, Irene H Maumenee; Ocular Findings in Osteogenesis Imperfecta: An Ophthalmologist Eye Survey. Invest. Ophthalmol. Vis. Sci. 2018;59(9):177.
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© ARVO (1962-2015); The Authors (2016-present)
Osteogenesis imperfecta (OI) is a disorder of Type 1 collagen synthesis variably marked by bone fractures, dental abnormalities, and cardiovascular disease, often early in life. The prevalence and severity of ocular conditions in patients with OI of different types is unknown. The purpose of this study was to determine if a clinical eye exam survey completed by ophthalmologists for patients with OI could collect meaningful data on ocular pathologies that affect the OI population.
A clinical eye exam form was distributed online to patients and families affected by OI through the Osteogenesis Imperfecta Foundation (OIF) website. Patients were instructed to take this eye exam form to their local ophthalmologist for completion with de-identified exam data. The forms were then collected at the 2016 OIF National Meeting or mailed in for inclusion in the study. Onsite eye examinations and imaging at the 2016 OIF National Meeting were also performed as part of de-identified data collection.
Reported OI types included "Type 1" (N=22), "Type 3 or Suspect Type 3" (N=8), "Types 3 or 4" (N=4), "Type 4" (N=4), and "Unknown Type" (N=3). Mean Age: 45 yrs [SD 18] 72% Female.In OI Type 1 (N=22), diagnoses included:N % Eye Diagnoses9 41% Cataracts (7) and Post Cataract Surgery (2)8 36% Ocular Surface Disease / Dry Eye Syndrome7 32% Myopia / Astigmatism5 23% Hyperopia / Astigmatism4 18% Thin Corneas < 510 microns4 18% Glaucoma3 14% Posterior Vitreous Separation1 5% Nystagmus1 5% Presbyopia1 5% Iris Transillumination Defects1 5% Optic Neuritis / Multiple Sclerosis1 5% Macular Hole / ERM1 5% Choroidal Nevus1 5% Lattice Degeneration1 5% Retinal Tear Receiving Laser1 5% Retinal Hole1 5% Bilateral Retinal DetachmentIn OI Types 3 and 4 (N=16), diagnoses included:N % Eye Diagnoses5 31% Cataracts5 31% Myopia / Astigmatism3 19% Amblyopia2 13% Dry Eye Syndrome2 13% Astigmatism2 13% Thin Corneas < 510 microns2 13% Glaucoma1 6% Posterior Vitreous Separation1 6% Hyperopia / Astigmatism1 6% High myopia -14D, cataract surgery age 301 6% Congenital Ptosis1 6% Progressive Myopia1 6% Blepharitis
A range of ocular conditions may affect OI patients. The management of these eye diagnoses requires careful ophthalmologist examinations, follow up, and treatment where necessary. In addition to orthopedic, dental, and other issues in OI, this eye survey suggests ocular conditions should be screened for carefully in patients with OI.
This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.
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