Chorioretinal lesions in patients and carriers of chronic granulomatous disease

Green, David; Butcher, Jeremy; Thrasher, Adrian J.; Russell‐Eggitt, Isabelle

doi:10.1016/s0022-3476(99)70299-4

Cited by 81 publications

(51 citation statements)

References 13 publications

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“…17 The prevalence of chorioretinal lesions in CGD is 23% to 35%, but they typically appear "punched out" and are associated with pigment clumping. 14,18 However, papillitis and sheathing of retinal vessels, as seen in patient 1, have not been reported in CGD. Both patients 1 and 2 share 2 associated epidemiologic risk factors for sarcoidosis: black racial background and originating from a highly associated region of North Carolina.…”

Section: Figurementioning

confidence: 89%

“…3 Her conjunctival nodules, chorioretinitis, papillitis, and perivascular sheathing are representative of the inflammation seen in ocular sarcoidosis 12,13 and not in CGD. 14 Unlike the chronic type of optic nerve involvement in sarcoidosis, the acute form responds well to corticosteroid therapy, 15 as seen in patient 1. In contrast, central nervous system inflammation unrelated to infections is rare in CGD, and other than 1 report of brain lesions from postmortem findings, 16 all reported cases to date are related to fungal infections.…”

Section: Figurementioning

confidence: 99%

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Sarcoidosis in Chronic Granulomatous Disease

et al. 2006

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In addition to increased susceptibility to infections in patients with chronic granulomatous disease (CGD), a higher incidence of sterile inflammatory disorders in these patients has been noted. However, sarcoidosis has not been reported previously in CGD. In this report, we describe two patients who have CGD and a disorder consistent with sarcoidosis on the basis of unequivocal clinical-radiographic presentations, their responses to treatment, and serum angiotensin-converting enzyme levels. Serum angiotensin-converting enzyme levels were measured in 26 other patients with CGD to establish an appropriate reference range. A possible relationship between CGD and sarcoidosis is discussed. C HRONIC GRANULOMATOUS DISEASE (CGD) is a rare primary immunodeficiency with an incidence of 1 in 200 000 to 250 000 live births. 1 Mutations in any 1 of the 4 genes (CYBB, CYBA, NCF-1, or NCF-2) encoding the subunits (gp91 phox , p22 phox , p47 phox , and p67 phox , respectively) of the phagocyte nicotinamide adenine dinucleotide phosphate oxidase complex result in defective production of microbicidal reactive oxidant species. 2 Patients with CGD therefore are more susceptible to recurrent suppurative infections. Granulomas, typically caseating, in the setting of infections are a hallmark of CGD. The mechanism for granuloma formation remains unclear and may be related to factors such as increased susceptibility to infections and poor clearance of microorganisms. In addition, a significant subset of patients with CGD have noninfectious inflammatory problems that are often autoimmune in character. The reason for this association is poorly understood.Sarcoidosis, a multiorgan granulomatous disease, occurs at a frequency of 1 to 50 per 100 000 individuals with a cause that remains unknown despite its first description Ͼ100 years ago. 3 The pathognomonic finding of sarcoidosis is noncaseating epithelioid granulomas, although necrosis is occasionally seen. 4 Clinically, sarcoidosis can have a spectrum of presentations and severity. 5 Pulmonary involvement is the most common, occurring in ϳ90% of the patients, mostly including bilateral hilar lymphadenopathy. 6 Extrathoracic localizations include peripheral lymph nodes, skin (erythema nodosum, and lupus pernio), eyes (uveitis, iridocyclitis, and keratoconjunctivitis), joints, liver, and spleen. Neurosarcoidosis is a serious and much more rare complication that is seen in 5% to 15% of patients. 3 In the absence of specific tests for sarcoidosis, it is essentially a diagnosis of exclusion. However, in addition to typical clinical-radiographic findings and histopathologic evidence of noncaseating granulomas, diagnosis can be supported by raised serum angiotensin-converting enzyme (ACE) levels.To date, we have been unable to identify a report of sarcoidosis in patients with CGD. Here we report a diagnostic dilemma in 2 patients with CGD and features that are compatible with sarcoidosis and not explainable by their underlying CGD and discuss possible relationships between CGD and sar...

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Section: Figurementioning

confidence: 89%

Section: Figurementioning

confidence: 99%

Sarcoidosis in Chronic Granulomatous Disease

et al. 2006

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“…Those neutrophils with inactivation of the X-chromosome carrying the defective gene will have a normal respiratory burst [as assayed by nitroblue tetrazolium (NBT) or dihydrorhodamine (DHR) reduction], while those with inactivation of the normal X will have an absent response in these assays [1]. It is recognized increasingly that carrier status may be associated with a variety of manifestations including infections and ocular lesions [3,5].…”

Section: Introductionmentioning

confidence: 99%

Cutaneous and other lupus-like symptoms in carriers of X-linked chronic granulomatous disease: incidence and autoimmune serology

Cale

Morton

Green

2007

Clinical and Experimental Immunology

137

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SummaryThe objective of this study was to determine the utility of anti-nuclear antibody (ANA) testing in the investigation of cutaneous and other lupus symptoms in female carriers of X-linked chronic granulomatous disease (CGD). We undertook a prospective study of 19 carrier mothers attending our institution, with direct questioning of carriers concerning symptoms and testing for anti-nuclear and anti-phospholipid antibodies. A total of 58% reported significant photosensitive skin rashes, 42% reported mouth ulcers and 37% complained of joint pains that could not be attributed to other known causes. Anti-nuclear antibody (ANA) testing was negative in 73% of all carriers. The five positive ANAs were of low titre (maximum 1 : 320 on Hep 2 cells in two women) and only one weak positive double-stranded DNA antibody and no extractable nuclear antibodies were found. Several of the mothers, despite negative serology, benefited from referral to a specialist, and in some cases to specific treatment. A history of skin rashes, joint pain, fatigue and mouth ulcers should be sought actively in the female relatives of X-CGD patients but negative lupus serology should not preclude referral to appropriate dermatology or rheumatology services. as symptoms may respond well to appropriate treatment.

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“…Since then, many authors have reported ocular signs of the disease and the most frequent are chorioretinal lesions, uveitis, keratitis, conjunctivitis, and optic nerve atrophy. [7][8][9][10] Chorioretinal lesions often appear as peripheral nonprogressive inactive punch-out atrophic chorioretinal scars with pigment clumping around the vessels and possible retinal pigment atrophy. These lesions typically do not affect visual acuity.…”

Section: Discussionmentioning

confidence: 99%