Figure 1. Fundus photograph, disc photograph, angiogram, and grayscale and pattern standard deviation plots. A, Fundus photograph of the left eye demonstrates dilated, tortuous veins with retinal whitening superior to the fovea with scattered dot hemorrhages. B, Disc photograph shows nasal disc hyperemia and hemorrhage (arrow). C, Angiogram at 20 seconds reveals delayed venous filling. D, Grayscale and pattern standard deviation plots of a reliable visual field confirm a residual paracentral scotoma.
Figure 2. Pedigree and resequenced DNA. A, Pedigree of family UM:JG1, as previously reported by Rozsa et al.1 Squares indicate males; circles, females; diagonal lines, deceased; open symbols, unaffected; solid symbols, affected; arrow, proband; and +, Pro370Leu MYOC mutation confirmed with molecular diagnosis. The pedigree was created using the Madeline 2.0 pedigree drawing engine (Kellogg Eye Center, University of Michigan, Ann Arbor). B, Resequenced DNA from the proband demonstrating the Pro370Leu mutation.
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Zhang L, Sun Y, Johnson MW, Richards JE, Moroi SE. Combined Cilioretinal Artery and Central Vein Occlusions in Juvenile Glaucoma. Arch Ophthalmol. 2011;129(9):1231–1234. doi:10.1001/archophthalmol.2011.284
We describe a 15-year-old boy with juvenile glaucoma (JG) due to a myocilin (MYOC) missense mutation who manifested elevated intraocular pressure (IOP) and combined cilioretinal artery occlusion and central retinal vein occlusion (CRVO) in the left eye.
A 15-year-old healthy boy, diagnosed as having JG at age 10 years, visited his local ophthalmologist for painless vision loss in the left eye for 3 days. He denied illicit drug use. His IOPs were 34 mm Hg OD and 30 mm Hg OS while he was receiving timolol maleate, brimonidine tartrate, and latanoprost. On referral, best-corrected visual acuities were 20/20 OD and 20/40 OS. With addition of acetazolamide, IOPs were 36 mm Hg OD and 27 mm Hg OS. The pupils, anterior segments, and anterior chamber angles were normal. Fundus examination of the left eye showed dilated and tortuous veins, optic disc and intraretinal hemorrhages, and retinal whitening along the distribution of the cilioretinal artery (Figure 1A and B). The fundus of the right eye was unremarkable. Visual fields were reliable and full, but Amsler grid testing showed an inferocentral scotoma in the left eye. Angiography demonstrated delayed venous and cilioretinal arteriolar filling (Figure 1C) and disc leakage.
He was diagnosed as having mild CRVO and cilioretinal artery occlusion. Results of an evaluation for a hypercoagulable state (complete blood cell count, serum homocysteine, anticardiolipin antibody, lupus anticoagulant, erythrocyte sedimentation rate, and serum protein electrophoresis) were unremarkable. Using established molecular methods, his genotype revealed the same Pro370Leu MYOC mutation previously reported in other members of his family, UM:JG1 (Figure 2).1
Seven months following trabeculectomies, initially in the left eye and then in the right eye, his BCVA was 20/20 OU and IOPs were 16 mm Hg OU while he was receiving brimonidine. He noted a smaller inferior defect (Figure 1D). Fundus examination of the left eye revealed significantly decreased venous dilation, with resolution of retinal hemorrhages and whitening.
Combined CRVO with cilioretinal artery occlusion is a rare entity first described in 1968.2 Previously thought to be due to thromboembolus, cilioretinal artery occlusions are now thought to be secondary to CRVO.3 The proposed mechanisms include a sudden occlusion of the central retinal vein transmitting an increase in intraluminal pressure within the retinal capillary bed to a level higher than that of the cilioretinal artery to cause transient blockage of the cilioretinal artery.3,4 Recently, McLeod5 speculated that CRVO may shunt blood flow from the cilioretinal artery and divert flow to the choroidal circulation, with the degree of hypoperfusion of the cilioretinal artery depending on where it branches from the posterior ciliary artery circulation.
Blurred vision is the most common manifestation.3,4 Severe vision loss occurs because of foveal ischemia from cilioretinal artery occlusion and/or macular edema from CRVO. The most commonly reported visual field defect is a cecocentral scotoma of varying effect according to location and distribution of the occluded cilioretinal artery. Visual acuity and visual field recovery are common in cilioretinal artery occlusion with nonischemic CRVO cases.3,4 If the cilioretinal artery involves the entire perifoveal capillary net or there is an ischemic CRVO, then prognosis is guarded with concern for subsequent rubeosis and neovascular glaucoma.3,4
Although glaucoma and ocular hypertension have been highly associated with vein occlusions,6 to our knowledge, this is the first reported case of JG with increased IOP associated with combined CRVO and cilioretinal artery occlusion. Cilioretinal artery occlusions are rare in young patients, so systemic hypercoagulable states must be excluded. Surgical intervention resulted in decreased IOP, and because our patient had mild CRVO with some foveal involvement of the cilioretinal artery, his visual outcome was good with a limited paracentral scotoma. As JG is typically a bilateral disease, the IOP of the fellow eye should be monitored vigilantly and prophylactic surgery performed aggressively to prevent similar vascular complications from occurring.
Correspondence: Dr Moroi, Department of Ophthalmology and Visual Sciences, University of Michigan, 1000 Wall St, Ann Arbor, MI 48105 (firstname.lastname@example.org).
Financial Disclosure: Dr Moroi receives clinical research funding from Merck & Co, Inc, and book royalties from Lippincott Williams & Wilkins.
Funding/Support: This project was supported in part by grant EY011671 (Dr Richards) and core grant EY07003 from the National Eye Institute and an unrestricted grant from Research to Prevent Blindness.
Additional Contributions: Ed Trager, MS, created the pedigree in Figure 12.
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