Ocular Involvement in Primary Immunodeficiency Diseases

Hosseinverdi, Sima; Hashemi, Hassan; Aghamohammadi, Asghar; Ochs, Hans D.; Rezaei, Nima

doi:10.1007/s10875-013-9974-2

Cited by 14 publications

(76 citation statements)

References 196 publications

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“…Other ocular manifestations of HIES have been described, including conjunctivitis [ 7 ], keratitis, corneal perforation, xanthelasma, undefined eye lid nodules, giant chalazia, strabismus, and retinal detachment with complicated cataracts and keratoconus [ 8 , 9 ]. Retinal vasculitis has been described in common variable immunodeficiency [ 10 ]. Retinal hemorrhage is also reported as one of the ocular manifestations of hyperimmunoglobulin E syndrome [ 11 ].…”

Section: Discussionmentioning

confidence: 99%

Retinal Occlusive Vasculitis in a Patient with Hyperimmunoglobulin E Syndrome

Farvardin

Jalalpour

Khalili

et al. 2021

Case Reports in Ophthalmological Medicine

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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.

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Section: Discussionmentioning

confidence: 99%

Retinal Occlusive Vasculitis in a Patient with Hyperimmunoglobulin E Syndrome

Farvardin

Jalalpour

Khalili

et al. 2021

Case Reports in Ophthalmological Medicine

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“…The progression of neurological manifestations is unfortunately not arrested by hematopoietic stem cell transplantation (HSCT). 50-52…”

Section: Primary Immunodeficiency Diseasesmentioning

confidence: 99%

Neurological Manifestations of Primary Immunodeficiency Diseases

Aydın

Anlar

2017

Clin Pediatr (Phila)

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“…However, it has to be stressed that for taking the correct actions the widely promulgated "warning signs" have to be interpreted by experts (21). Other tools to raise awareness might be medical discipline-specific reviews (22)(23)(24)(25)(26) or data mining in national or international registries. National registries may not have the power of international registries (http:// esid.org/Working-Parties/Registry/ESID-Online-Registry, accessed April 2014).…”

Section: Pid Diagnosis -As Early As Possiblementioning

confidence: 99%