Ocular manifestations in chronic granulomatous disease in Saudi Arabia.
BACKGROUND
Chronic granulomatous disease (CGD) is a primary immunodeficiency disease caused by a genetic defect in the NADPH oxidase complex of phagocytic cells. Recent reports indicate that chorioretinal lesions are more common than previously suspected. In this study, ocular findings of CGD patients are described with particular emphasis on chorioretinal lesions as a potentially serious ocular complication of CGD.


METHODS
Medical records of CGD patients attending an immunodeficiency clinic at a tertiary care center from January 2004 to December 2006 were reviewed. Patients underwent full ophthalmologic examination. Patients with chorioretinal lesions were investigated for various causes of chorioretinitis. Molecular studies for common CGD-causing genes were performed in patients with chorioretinal lesions.


RESULTS
This cohort included 32 CGD patients: 14 (44%) had abnormal eye findings, 11 (34%) had anterior segment disease, and 4 (12.5%) had chorioretinal lesions. Posterior segment findings consisted of uniformly similar hypopigmented atrophic punched-out chorioretinal scars around the arcades and mid-equator sparing of the macula. One patient had exudative hemorrhagic total retinal detachment in the right eye. Two siblings with chorioretinal lesions had mutation in CYBB, an X-linked gene. Another patient carried a missense mutation in NCF2, causing autosomal-recessive disease.


CONCLUSIONS
While ocular manifestation is common in CGD, chorioretinal lesions seem less frequent. However, they present potential risk of visual loss; it is recommended that patients undergo regular ophthalmologic examinations. This report provides further evidence that chorioretinal lesions occur not only in X-linked, but they can also occur in the autosomal-recessive form of CGD.
Al-Muhsen
Saleh
S
Department of Pediatrics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia. smohsen@kfshrc.edu.sa
Al-Hemidan
Amal
A
Al-Shehri
Amer
A
Al-Harbi
Abdullah
A
Al-Ghonaium
Abdulaziz
A
Al-Saud
Bandar
B
Al-Mousa
Hamoud
H
Al-Dhekri
Hasan
H
Arnaout
Rand
R
Al-Mohsen
Ibrahim
I
Alsmadi
Osama
O
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002825:Chorioretinitis / Q000209:etiology*; D003241:Consanguinity; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000150:complications* / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D009154:Mutation; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases / Q000235:genetics; D012529:Saudi Arabia
D008562:Membrane Glycoproteins; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases; C527764:NCF2 protein, human