Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita.
Publication
, Journal Article
Allingham, MJ
Published in: Ophthalmic Surg Lasers Imaging Retina
April 1, 2016
Dyskeratosis congenita (DC) is the prototypical member of a family of diseases caused by defective telomere maintenance. These "telomeropathies" also include Hoyeraal-Hreidarsson syndrome (HH) and Revesz syndrome, which are severe forms of dyskeratosis congenita, as well as a subset of idiopathic pulmonary fibrosis, aplastic anemia, and Coats' plus syndrome. Retinopathy has only rarely been reported in DC and HH, but is universally present in Coats' plus and Revesz syndromes. The care of these patients is typically a multidisciplinary effort, and this should include monitoring by an ophthalmologist.
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Published In
Ophthalmic Surg Lasers Imaging Retina
DOI
EISSN
2325-8179
Publication Date
April 1, 2016
Volume
47
Issue
4
Start / End Page
366 / 368
Location
United States
Related Subject Headings
- Visual Acuity
- Retinal Vessels
- Retinal Telangiectasis
- Retinal Neovascularization
- Microcephaly
- Male
- Intraocular Pressure
- Intellectual Disability
- Humans
- Fluorescein Angiography
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APA
Chicago
ICMJE
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Allingham, M. J. (2016). Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita. Ophthalmic Surg Lasers Imaging Retina, 47(4), 366–368. https://doi.org/10.3928/23258160-20160324-11
Allingham, Michael J. “Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita.” Ophthalmic Surg Lasers Imaging Retina 47, no. 4 (April 1, 2016): 366–68. https://doi.org/10.3928/23258160-20160324-11.
Allingham MJ. Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita. Ophthalmic Surg Lasers Imaging Retina. 2016 Apr 1;47(4):366–8.
Allingham, Michael J. “Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita.” Ophthalmic Surg Lasers Imaging Retina, vol. 47, no. 4, Apr. 2016, pp. 366–68. Pubmed, doi:10.3928/23258160-20160324-11.
Allingham MJ. Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita. Ophthalmic Surg Lasers Imaging Retina. 2016 Apr 1;47(4):366–368.
Published In
Ophthalmic Surg Lasers Imaging Retina
DOI
EISSN
2325-8179
Publication Date
April 1, 2016
Volume
47
Issue
4
Start / End Page
366 / 368
Location
United States
Related Subject Headings
- Visual Acuity
- Retinal Vessels
- Retinal Telangiectasis
- Retinal Neovascularization
- Microcephaly
- Male
- Intraocular Pressure
- Intellectual Disability
- Humans
- Fluorescein Angiography