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Ophthalmic Genetics Volume 43, 2022 - Issue 5
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Case Report

A case of neurofibromatosis type 1 and unilateral glaucoma with ectropion uveae

Akshaya L. Thananjeyana University of Sydney School of Rural Health, Dubbo Base Hospital, Dubbo, NSW, AustraliaORCID Iconhttps://orcid.org/0000-0001-7891-2497View further author information
ORCID Icon,
Tanya Karaconjib Save Sight Institute, Discipline of Clinical Ophthalmology and Eye Health, Faculty of Medicine and Health, Sydney, NSW, Australia;c Department of Ophthalmology, The Children’s Hospital Westmead, Sydney, NSW, AustraliaCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0001-8981-9685View further author information
ORCID Icon,
Maree Flahertyb Save Sight Institute, Discipline of Clinical Ophthalmology and Eye Health, Faculty of Medicine and Health, Sydney, NSW, Australia;c Department of Ophthalmology, The Children’s Hospital Westmead, Sydney, NSW, AustraliaView further author information
,
Sophia Zagorab Save Sight Institute, Discipline of Clinical Ophthalmology and Eye Health, Faculty of Medicine and Health, Sydney, NSW, Australia;c Department of Ophthalmology, The Children’s Hospital Westmead, Sydney, NSW, AustraliaORCID Iconhttps://orcid.org/0000-0002-8920-9737View further author information
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Robyn V. Jamiesonb Save Sight Institute, Discipline of Clinical Ophthalmology and Eye Health, Faculty of Medicine and Health, Sydney, NSW, Australia;d Eye Genetics Research Group Children’s Medical Research Institute, The Children’s Hospital at Westmead, Sydney, NSW, Australia;e Disciplines of Genetic Medicine, and Child and Adolescent, Health, Sydney Medical School, University of Sydney, Sydney, NSW, AustraliaORCID Iconhttps://orcid.org/0000-0002-7285-0253View further author information
ORCID Icon &
John R. B. Griggb Save Sight Institute, Discipline of Clinical Ophthalmology and Eye Health, Faculty of Medicine and Health, Sydney, NSW, Australia;d Eye Genetics Research Group Children’s Medical Research Institute, The Children’s Hospital at Westmead, Sydney, NSW, Australia;e Disciplines of Genetic Medicine, and Child and Adolescent, Health, Sydney Medical School, University of Sydney, Sydney, NSW, AustraliaORCID Iconhttps://orcid.org/0000-0002-6763-8119View further author information
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Pages 709-712 | Received 25 Apr 2022, Accepted 01 Jun 2022, Published online: 20 Jun 2022

References

  • Karaconji T, Whist E, Jamieson RV, Flaherty MP, Grigg JRB. Neurofibromatosis type 1: review and update on emerging Therapies. Asia Pac J Ophthalmol (Phila). 2019;8(1):62–72. doi:10.22608/APO.2018182.
  • Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, Blakeley J, Babovic-Vuksanovic D, Cunha KS, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med. 2021;23(8):1506–13. doi:10.1038/s41436-021-01170-5.
  • Edward DP, Morales J, Bouhenni RA, Patil J, Edward PR, Cummings TJ, Chaudhry IA, AlKatan H. Congenital ectropion uvea and mechanisms of glaucoma in neurofibromatosis type 1: new insights. Ophthalmology. 2012;119(7):1485–94. doi:10.1016/j.ophtha.2012.01.027.
  • Kinori M, Hodgson N, Zeid JL. Ophthalmic manifestations in neurofibromatosis type 1. Surv Ophthalmol. 2018;63(4):518–33. doi:10.1016/j.survophthal.2017.10.007.
  • Morales JCI, Bosley TM. Glaucoma and globe enlargement associated with neurofibromatosis type 1. Ophthalmology. 2009;116(9):1725–30. doi: 10.1016/j.ophtha.2009.06.019.
  • Hoyt CS, Billson FA. Buphthalmos in neurofibromatosis: is it an expression of regional gigantism? J Pediatr Ophthalmol. 1977;14(4):228–34.
  • Yassin S, Al-Tamimi E. Familial bilateral combined hamartoma of retina and retinal pigment epithelium associated with neurofibromatosis 1. Saudi J Ophthalmol. 2012;26(2):229–34. doi:10.1016/j.sjopt.2012.03.005.
  • Lim FPM, Ho CL. Long-term treatment outcomes for congenital ectropion uveae with ptosis and glaucoma. J Am Assoc Pediatr Ophthalmol Strabismus. 2020;24(6):369–71. doi:10.1016/j.jaapos.2020.06.015.
  • Wang GM, Thuente D, Bohnsack BL. Angle closure glaucoma in congenital ectropion uvea. Am J Ophthalmol Case Rep. 2018;10:215–20. doi:10.1016/j.ajoc.2018.03.009.

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