Chorioretinal lesions in patients and carriers of chronic granulomatous disease.
OBJECTIVE
To investigate the frequency of retinal lesions in patients with chronic granulomatous disease (CGD) and to seek such lesions in carriers.


METHODS
Seventy-four individuals from 33 families were recruited; 38 had CGD (30 X-linked and 8 autosomal recessive inheritance). All participants (including 33 control subjects) underwent measurement of visual acuity, anterior segment examination by slit lamp, and dilated funduscopy.


RESULTS
Nine of 38 (23.7%) of the affected children had chorioretinal lesions compared with 0 of 33 control subjects. All 9 were known to have X-linked CGD and absent gp91(phox). The "typical" retinal abnormality consisted of "punched out" chorioretinal lesions associated with pigment clumping lying along major retinal vessels. Unexpectedly, 3 XL-CGD asymptomatic carriers also had typical chorioretinal lesions.


CONCLUSIONS
Retinal lesions are relatively common in patients with XL-CGD and may interfere with vision and thus should be sought in such patients.
Goldblatt
D
D
Immunobiology Unit and Molecular Immunology Units, Institute of Child Health, The Great Ormond Street Children's Hospital, London, United Kingdom.
Butcher
J
J
Thrasher
A J
AJ
Russell-Eggitt
I
I
D000293:Adolescent; D000328:Adult; D001284:Atrophy; D002648:Child; D002675:Child, Preschool; D002825:Chorioretinitis / Q000235:genetics; D002829:Choroid / Q000473:pathology*; D005260:Female; D005820:Genetic Testing; D006105:Granulomatous Disease, Chronic / Q000150:complications / Q000235:genetics / Q000473:pathology*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases; D012160:Retina / Q000473:pathology*
D008562:Membrane Glycoproteins; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases