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S. Khetarpal, S. Yeh, J. A. Smith; Ophthalmic Manifestations of Chronic Granulomatous Disease. Invest. Ophthalmol. Vis. Sci. 2008;49(13):809.
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Chronic granulomatous disease is a rare, genetic disorder resulting in defective NADPH oxidase and respiratory burst in phagocytic cells, impairing killing of organisms and increasing infection. X-linked and autosomal recessive patterns have been described, due to defective gp91 and p47 genes, respectively. The purpose of this study was to describe CGD ocular findings and to explore genotype/phenotype relationships.
Retrospective, observational case series. Charts of CGD pts seen at NEI were reviewed. Data collected included gender, race, diagnosis age, genotype, VA, and ophthalmic diagnoses. Ophthalmic findings were classified into categories as follows: eyelid/ocular adnexa, conjunctiva, cornea (scarring, haze, subepithelial infiltrates, neovascularization), keratitis, cataract, uveitis (anterior a/o posterior), chorioretinal lesions, retinal abnormalities (retinal detachment/degenerative changes), and optic nerve disease (cupping, pallor, edema).
48 patients (36 males, 12 females) with a mean age of diagnosis of 4.95 yrs were identified. (Mean age at diagnosis=9.62 yrs for p47, 2.61 yrs for gp91). The gp91 mutation was found in 32/48 pts (66%); the p47 mutation was found in 16/48 pts (33%). In the poorer eye, 60.4% of pts demonstrated VA>20/40, 37.5% of pts demonstrated VA between 20/40-20/200 and 4.2% pts demonstrated VA<20/200. 9/16 (56%) p47 mutation pts and 11/32 (34%) of the gp91 mutation pts demonstrated VA<20/40 (p=0.21).Ophthalmic disease was observed in 37/48 pts (77.1%). Of pts who developed ophthalmic disease, chorioretinal lesions were seen in 37/37 pts (100%), followed by corneal abnormalities in 21 pts (59%), uveitis in 13 pts (35%), optic nerve disease in 12 pts (32%) and keratitis in 11 pts (30%). No significant difference was found in the proportion of pts who developed various ophthalmic diagnoses when comparing p47 vs. gp91 mutations. The proportion of p47 pts who developed uveitis (58%) was slightly higher vs. the gp91 group (24%, p=0.066).Of total CGD pts screened, 56% pts had ≥2 ocular lesions, 43.8% had ≥3, and 29.2% had ≥4. Mean number of lesions/pt was 2.30. 2.06 lesions/pt were seen in the gp91 pts, whereas 2.75 lesions/pt were seen in the p47 pts (p=0.24).
The ophthalmic manifestations of CGD can be visually significant, with 41.7% pts developing moderate or severe visual loss. Chorioretinal lesions are the most common ocular lesion observed followed by corneal abnormalities and uveitis. Further studies are needed to understand the pathways that may predispose pts of certain genotypes to specific ophthalmic complications.
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