July 2018
Volume 59, Issue 9
ARVO Annual Meeting Abstract  |   July 2018
Ocular Findings in Osteogenesis Imperfecta: An Ophthalmologist Eye Survey
Author Affiliations & Notes
  • Felix Chau
    Ophthalmology and Visual Science, University of Illinois at Chicago, Chicago, Illinois, United States
  • Victor Villegas
    Bascom Palmer Eye Institute, University of Miami, Miami, Florida, United States
  • Thasarat S Vajaranant
    Ophthalmology and Visual Science, University of Illinois at Chicago, Chicago, Illinois, United States
  • Irene H Maumenee
    Ophthalmology and Visual Science, University of Illinois at Chicago, Chicago, Illinois, United States
    Ophthalmology, Columbia University, New York, New York, United States
  • Footnotes
    Commercial Relationships   Felix Chau, None; Victor Villegas, None; Thasarat Vajaranant, None; Irene Maumenee, None
  • Footnotes
    Support  NEI K12 EY021475; Research to Prevent Blindness
Investigative Ophthalmology & Visual Science July 2018, Vol.59, 177. doi:
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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)

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Purpose : 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.

Methods : 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.

Results : 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 Diagnoses
9 41% Cataracts (7) and Post Cataract Surgery (2)
8 36% Ocular Surface Disease / Dry Eye Syndrome
7 32% Myopia / Astigmatism
5 23% Hyperopia / Astigmatism
4 18% Thin Corneas < 510 microns
4 18% Glaucoma
3 14% Posterior Vitreous Separation
1 5% Nystagmus
1 5% Presbyopia
1 5% Iris Transillumination Defects
1 5% Optic Neuritis / Multiple Sclerosis
1 5% Macular Hole / ERM
1 5% Choroidal Nevus
1 5% Lattice Degeneration
1 5% Retinal Tear Receiving Laser
1 5% Retinal Hole
1 5% Bilateral Retinal Detachment

In OI Types 3 and 4 (N=16), diagnoses included:
N % Eye Diagnoses
5 31% Cataracts
5 31% Myopia / Astigmatism
3 19% Amblyopia
2 13% Dry Eye Syndrome
2 13% Astigmatism
2 13% Thin Corneas < 510 microns
2 13% Glaucoma
1 6% Posterior Vitreous Separation
1 6% Hyperopia / Astigmatism
1 6% High myopia -14D, cataract surgery age 30
1 6% Congenital Ptosis
1 6% Progressive Myopia
1 6% Blepharitis

Conclusions : 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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