Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2021 Dec 23:2021:6317358.
doi: 10.1155/2021/6317358. eCollection 2021.

Retinal Occlusive Vasculitis in a Patient with Hyperimmunoglobulin E Syndrome

Mohsen Farvardin  1 , Mohammad Hassan Jalalpour  1 , Mohammad Reza Khalili  1 , Golnoush Mahmoudinezhad  2 , Fereshteh Mosavat  3 , Soheila Aleyasin  3 , Hamidreza Jahanbani-Ardakani  4   5
Affiliations
Case Reports

Retinal Occlusive Vasculitis in a Patient with Hyperimmunoglobulin E Syndrome

Mohsen Farvardin et al. Case Rep Ophthalmol Med. .

Abstract

Background: Hyperimmunoglobulin E syndrome (HIES), or Job's syndrome, is a primary immunodeficiency disorder that is characterized by an elevated level of IgE with values reaching over 2000 IU (normal < 200 IU), eczema, and recurrent staphylococcus infection. Affected individuals are predisposed to infection, autoimmunity, and inflammation. Herein, we report a case of HIES with clinical findings of retinal occlusive vasculitis. Case Presentation. A 10-year-old boy with a known case of hyperimmunoglobulin E syndrome had exhibited loss of vision and bilateral dilated fixed pupil. Fundoscopic examination revealed peripheral retinal hemorrhaging, vascular sheathing around the retinal arteries and veins, and vascular occlusion in both eyes. A fluorescein angiography of the right eye showed hyper- and hypofluorescence in the macula and hypofluorescence in the periphery of the retina, peripheral arterial narrowing, and arterial occlusion. A fluorescein angiography of the left eye showed hyper- and hypofluorescence in the supranasal area of the optic disc. Macular optical coherence tomography of the right eye showed inner and outer retinal layer distortion. A genetic study was performed that confirmed mutations of the dedicator of cytokinesis 8 (DOCK 8). HSV polymerase chain reaction testing on aqueous humor and vitreous was negative, and finally, the patient was diagnosed with retinal occlusive vasculitis.

Conclusion: Occlusive retinal vasculitis should be considered as a differential diagnosis in patients with hyperimmunoglobulin E syndrome presenting with visual loss.

PubMed Disclaimer

Conflict of interest statement

The authors declare that they have no conflict of interest.

Figures

Figure 1
Figure 1
Multicolor SLO: (OD) optic nerve pallor, intraretinal hemorrhages, areas of macular whitening, perivascular infiltration, and retinal vein occlusion (thread like); (OS) optic nerve pallor, macular nerve fiber loss, intraretinal hemorrhages, and areas of macular whitening.
Figure 2
Figure 2
(a) Fundus fluorescein angiography of the right eye shows hyper- and hypofluorescence in the macular area in favor of retinal hemorrhage and vascular leakage and peripheral arterial narrowing and occlusion. (b) Fundus fluorescein angiography of the left eye shows hyper- and hypofluorescence that is in favor of vascular leakage, retinal hemorrhage, and ischemia in the supranasal area of the optic disc.
Figure 3
Figure 3
OCT of optic nerves (NFL analysis): (OD) mild NFL damage, especially at superior part; (OS) more severe NFL damage, especially at inferior part.
Figure 4
Figure 4
OCT of macula: (OD) faint epiretinal membrane, inner and outer retinal layers' distortion with some atrophic areas, and areas of subretinal hyporeflectivity (fluid); (OS) epiretinal membrane, intraretinal hyperreflectivity (hemorrhage), and subretinal hyporeflectivity (fluid).
See this image and copyright information in PMC

Similar articles

See all similar articles

References

    1. Yavuz H., Chee R. A review on the vascular features of the hyperimmunoglobulin E syndrome. Clinical and Experimental Immunology . 2010;159(3):238–244. doi: 10.1111/j.1365-2249.2009.04044.x. - DOI - PMC - PubMed
    1. Yong P. F. K., Freeman A. F., Engelhardt K. R., Holland S., Puck J. M., Grimbacher B. An update on the hyper-IgE syndromes. Arthritis Research & Therapy . 2012;14(6):p. 228. doi: 10.1186/ar4069. - DOI - PMC - PubMed
    1. Hsu A. P., Davis J., Puck J. M., Holland S. M., Freeman A. F. In: STAT3 Hyper IgE Syndrome . Adam M. P., Ardinger H. H., Pagon R. A., et al., editors. Seattle: Seattle (WA): University of Washington; 1993-2021.
    1. Engelhardt K. R., McGhee S., Winkler S., et al. Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. The Journal of Allergy and Clinical Immunology . 2009;124(6):1289–1302.e4. doi: 10.1016/j.jaci.2009.10.038. - DOI - PMC - PubMed
    1. Hashemi H., Mohebbi M., Mehravaran S., Mazloumi M., Jahanbani-Ardakani H., Abtahi S.-H. Hyperimmunoglobulin E syndrome: genetics, immunopathogenesis, clinical findings, and treatment modalities. Journal of Research in Medical Sciences . 2017;22(1):p. 53. doi: 10.4103/jrms.jrms_1050_16. - DOI - PMC - PubMed

Publication types

LinkOut - more resources