Journal of American Association for Pediatric Ophthalmology and Strabismus
Major ArticleOcular manifestations in chronic granulomatous disease in Saudi Arabia
Introduction
Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder and the result of a genetic defect in one of the components of the NADPH oxidase of the phagocytic cells that assist in combating catalase-producing organisms such as bacteria and fungi. Phagocytic cells from CGD patients are unable to generate hydrogen peroxide and free radicals. As a result, affected patients become susceptible to infection by catalase-producing organisms such as Staphylococcus aureus, Burkholdaria cepacia, and Aspergillus species.1, 2, 3, 4
Defects in any of the 4 genes that encode various components of the phagocytic oxidase system can result in CGD. The most common is the gene encoding gP91phox (CYBB) that results in the X-linked form of the disease. Three other forms caused by autosomal-recessive defects in other components of the NADPH oxidase system include P22phox, P47phox, and P67phox (encoded by CYBA, NCF1, and NCF2, respectively).5, 6, 7, 8, 9, 10 Recent data from a large national U.S. registry indicated that the X-linked recessive form tends to present earlier and follows a more severe course.11
Ocular manifestations of CGD have been described since 1965 and include dermatitis of the eyelids, conjunctivitis, keratitis, corneal ulcers, optic nerve atrophy, and chorioretinal lesions.12, 13 Carson and colleagues13 reported 2 of 13 CGD patients presenting with chorioretinal lesions. Subsequently, 11 patients with CGD and chorioretinal lesions were described in scattered studies that reported the lesions were perivascular, nonprogressive, and spared the macula.12, 14, 15, 16
Recent reports have suggested that chorioretinal lesions are more common than previously thought and occur primarily in X-linked patients and female carriers.17 In some patients, the disease caused severe vision loss.17, 18 The pathogenesis of these lesions remains unclear.16 This study reports ocular manifestations in a cohort of Saudi patients diagnosed with CGD for the first time in this population.
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Subjects and Methods
Medical records of CGD patients attending the Immunodeficiency Clinic from January 2004 to December 2006 at King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, were reviewed. The diagnosis of CGD was based on the definition adopted by the Pan-American Group for Immunodeficiency and the European Society of Immunodeficiency,19 which relies on clinical presentation and family history, and was confirmed in all patients by nitroblue tetrazolium (NBT) and by flow cytomeric
Results
Forty patients attending the Immunodeficiency Clinic at King Faisal Specialist Hospital and Research Center were diagnosed with CGD. Of these, 32 of the patients from 18 families were referred for full and detailed ophthalmologic examination. The remaining 8 subjects were not evaluated due to either death (4) or loss to follow-up (4).
A majority of patients were males (25/32; 78%). Median age was 9 years (range, 1.5–27). Thirty patients (94%) belonged to consanguineous marriages with at least 1
Discussion
Ocular diseases are a well-known manifestation of CGD.12, 13, 14, 15, 16, 17 In addition to adding cases to the literature on this rare disease, this study reports the ocular manifestations in a cohort of CGD patients of Arab descent for the first time. Although other studies found higher incidence of chorioretinal lesions in CGD patients,14, 15, 16, 17, 18 only 12.5% (4/32) of our cohort was affected with chorioretinal lesions. This might be an underestimate because 8 of the patients were
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There are no financial conflicts of interest to disclose.