Ocular manifestations of juvenile Paget disease

Nathan M. Kerr, Hamilton R. Cassinelli, Linda DiMeglio, Cristina Tau, Beyhan Tüysüz, Tim Cundy, Andrea L. Vincent

Research output: Contribution to journalArticle

20 Citations (Scopus)

Abstract

Objectives: To determine the prevalence and spectrum of retinal changes in juvenile Paget disease. Methods: Observational case series and literature review with analysis. Patients with clinical and molecular evidence of juvenile Paget disease were recruited by members of the International Hyperphosphatasia Collaborative Group. Participants underwent ophthalmic examinations consisting of at least best-corrected Snellen visual acuity and dilated fundal examination or color fundus photography. A MEDLINE literature search was performed, and all identified case reports were reviewed for information regarding ocular phenotype. Results: Fourteen eyes from 7 patients were examined. The mean (SD) patient age was 22 (8) years, and 4 patients were female. Retinal abnormalities were evident in 12 of 14 eyes and were reported among an additional 12 patients in the literature. Retinal abnormalities included mottling of the retinal pigment epithelium, peripapillary atrophy, angioid streaks, and choroidal neovascularization. Cumulative number of retinal abnormalities was strongly associated with increasing age. Conclusions: Juvenile Paget disease is associated with progressive retinopathy characterized by the development of angioid streaks, which may be complicated by choroidal neovascularization, the predominant cause of visual loss. Osteoprotegerin or its signaling pathway may have a role in calcification of Bruch membrane and in the pathogenesis of angioid streaks. Retinopathy in patients with juvenile Paget disease may be a sign of a more generalized vascular disorder.

Original languageEnglish
Pages (from-to)698-703
Number of pages6
JournalArchives of Ophthalmology
Volume128
Issue number6
DOIs
StatePublished - Jun 2010

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Eye Manifestations
Angioid Streaks
Choroidal Neovascularization
Bruch Membrane
Osteoprotegerin
Retinal Pigment Epithelium
Photography
MEDLINE
Visual Acuity
Atrophy
Blood Vessels
Hyperostosis corticalis deformans juvenilis
Color
Phenotype

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Kerr, N. M., Cassinelli, H. R., DiMeglio, L., Tau, C., Tüysüz, B., Cundy, T., & Vincent, A. L. (2010). Ocular manifestations of juvenile Paget disease. Archives of Ophthalmology, 128(6), 698-703. https://doi.org/10.1001/archophthalmol.2010.76

Ocular manifestations of juvenile Paget disease. / Kerr, Nathan M.; Cassinelli, Hamilton R.; DiMeglio, Linda; Tau, Cristina; Tüysüz, Beyhan; Cundy, Tim; Vincent, Andrea L.

In: Archives of Ophthalmology, Vol. 128, No. 6, 06.2010, p. 698-703.

Research output: Contribution to journalArticle

Kerr, NM, Cassinelli, HR, DiMeglio, L, Tau, C, Tüysüz, B, Cundy, T & Vincent, AL 2010, 'Ocular manifestations of juvenile Paget disease', Archives of Ophthalmology, vol. 128, no. 6, pp. 698-703. https://doi.org/10.1001/archophthalmol.2010.76
Kerr NM, Cassinelli HR, DiMeglio L, Tau C, Tüysüz B, Cundy T et al. Ocular manifestations of juvenile Paget disease. Archives of Ophthalmology. 2010 Jun;128(6):698-703. https://doi.org/10.1001/archophthalmol.2010.76
Kerr, Nathan M. ; Cassinelli, Hamilton R. ; DiMeglio, Linda ; Tau, Cristina ; Tüysüz, Beyhan ; Cundy, Tim ; Vincent, Andrea L. / Ocular manifestations of juvenile Paget disease. In: Archives of Ophthalmology. 2010 ; Vol. 128, No. 6. pp. 698-703.
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