1/292. Compound heterozygosity for one novel and one recurrent mutation in a Thai patient with severe protein s deficiency. Homozygous or compound heterozygous protein S (PS) deficiency is a very rare disorder in the anticoagulant system, that can lead to life-threatening thrombotic complications shortly after birth. This report describes the results of the genetic analysis of the PROS 1 genes in a Thai girl patient. She was reported in 1990 as the first case with homozygous PS deficiency and neonatal purpura fulminans. In the present report, we identified the mutations in this patient by direct sequencing of PCR products representing all 15 exons of the PROS 1 gene and their flanking intronic regions. The patient turned out to be compound heterozygous for two null mutations. One allele contained a novel sequence variation, an A-insertion in an A5-tract covering codon 146 and 147, that results in a frameshift and a stop codon (TAA) at position 155. The other allele contained a nonsense mutation in exon 12 by a transition at codon 410 CGA (Arg) to TGA (stop). Cosegregation of PS deficiency with these two genetic defects was observed in her family. ( info) |
2/292. Blurred vision and high blood pressure in a young woman. A 41-year-old woman presented with a short history of blurred vision. She had a 6-year history of refractory hypertension which had been treated with a variety of drug regimens. She was found to have bilateral branch retinal vein occlusion. retinal vein occlusion is a recognised complication of hypertension but simultaneous involvement of both eyes is extremely rare. Following this episode, blood pressure control has improved without change in drug therapy, suggesting that treatment compliance may partly explain the previous difficulties. ( info) |
| Combined occlusion of the central retinal artery and central retinal vein is an infrequently encountered clinical entity. Although there are reports in the literature of a combined occlusion of the central retinal artery and vein, its occurrence following pars plana vitrectomy has not been described. We report the case of an elderly patient who developed this unusual occurrence following an uneventful pars plana vitrectomy for a posteriorly dislocated IOL. ( info) |
| BACKGROUND: Retinal vascular disease is a rare complication of ulcerative colitis. CASE: We report a patient who developed unilateral nonischemic central retinal vein occlusion (CRVO) (papillophlebitis) without any other retinal vascular disease during remission of ulcerative colitis. OBSERVATIONS: The best-corrected visual acuities were 1.5 OD and 0.7 OS. Dilated and tortuous retinal veins and retinal bleeding were seen in the left eye. macular edema and leakage from the papilla and the retinal veins of the left eye were evident on fluorescein angiography. After increased dosage of systemic prednisolone was prescribed, the retinal vascular changes resulting from CRVO (papillophlebitis) in the left eye gradually abated. CONCLUSIONS: Retinal vascular diseases should be monitored during both remission and activation of intestinal symptoms of ulcerative colitis. ( info) |
5/292. Idiopathic central retinal vein occlusion in a thrombophilic patient with the heterozygous 20210 G/A prothrombin genotype. PURPOSE: To report the occurrence of monolateral central retinal vein occlusion in a patient with heterozygous 20210 G/A prothrombin genotype, known to be associated with high thrombophilic risk. methods: A monolateral central retinal vein occlusion was diagnosed in a 71-year-old woman, who had suffered from a deep vein thrombosis in her left leg at the age of 36 years. Mutations of the genes involved in the coagulation process were investigated by dna polymerase chain reaction. RESULT: dna analysis showed the patient to be heterozygous for the prothrombin 20210 G/A genetic variation. CONCLUSION: The 20210 G/A prothrombin gene mutation may be associated with central retinal vein occlusion. ( info) |
6/292. Combined central retinal artery and vein occlusion in a child with systemic non-Hodgkin's lymphoma. PURPOSE: To report on a case of systemic non-Hodgkin's lymphoma and unilateral combined central retinal artery and vein occlusion. METHOD: We examined a 14-year-old boy who experienced a sudden unilateral visual loss five months after the initial diagnosis of systemic non-Hodgkin's lymphoma. RESULT: Visual loss was due to combined central retinal artery and vein occlusion in association with tumoral optic nerve involvement. CONCLUSION: Although very rare systemic non-Hodgkin's lymphoma may present with central retinal artery and vein occlusion prior to overt central nervous system involvement. ( info) |
7/292. Venous collateral remodeling in a patient with posttraumatic glaucoma. PURPOSE: To photographically document venous collateral development, remodeling, and regression in a patient with traumatic glaucoma. methods: Consecutive fundus photographs were evaluated, labeled, and correlated with the clinical history of a patient with unilateral posttraumatic glaucoma. RESULTS: This report photographically documents the appearance, remodeling, and subsequent disappearance of collateral vessels from venous occlusion on the surface of the optic disk in an eye with increased intraocular pressure and progressive glaucomatous cupping. CONCLUSIONS: Asymptomatic chronic obstruction of a branch retinal vein on the optic disk may cause venous collaterals to develop in the absence of retinal hemorrhages or other signs of venous occlusive disease. Increased intraocular pressure, arteriolarsclerosis, and glaucomatous cupping are risk factors for these occlusions. ( info) |
8/292. Surgical chorioretinal venous anastomosis for ischemic central retinal vein occlusion. BACKGROUND AND PURPOSE: To report results of a pilot study to create chorioretinal venous anastomosis (CRVA) in eyes with ischemic central retinal vein occlusion (CRVO) via a pars plana approach. patients AND methods: Five eyes of 5 patients with ischemic CRVO underwent surgical CRVA. Following pars plana vitrectomy, the posterior hyaloid face was removed, and slit-like incisions were made with a microvitreoretinal blade adjacent to a major retinal vein in each quadrant. Small pieces of 50 Mersilene sutures (Ethicon, Somerville, NJ) were positioned over the vein and inserted into these incisions to promote vascularization. Panretinal photocoagulation was applied. RESULTS: A functional CRVA site was noted at 10 of 16 attempted sites (4 sites in 1 patient could not be evaluated because of cataract). Minor fibrous proliferation was noted at CRVA sites in all eyes. optic atrophy developed in 3 eyes. visual acuity improved in 3 eyes, remained unchanged in 1, and deteriorated in 1 eye after a mean follow up of 13.4 months (range 8-20 months). CONCLUSION: Surgically induced CRVA may improve the prognosis in some eyes with ischemic CRVO. ( info) |
9/292. Central retinal vein occlusion: report of two familial cases. The authors report a 46-year-old father and 17-year-old son who each presented with unilateral central retinal vein occlusion (CRVO) and bilateral abnormalities of retinal vascular perfusion. The son presented with a nonperfused CRVO in the left eye, developed traction-rhegmatogenous retinal detachment treated with vitreous surgery, and developed prolonged arteriovenous filling in the retina of the fellow eye. The father presented with progressive CRVO in the right eye, developed choroido-vitreal neovascularization following laser treatment to create a chorioretinal anastomosis, underwent vitrectomy for retinal detachment and vitreous hemorrhage in that eye, and developed prolonged arm-eye and retinal arteriovenous circulation times in the fellow eye. An extensive evaluation (including hematological studies and imaging of the major vessels of the neck) failed to reveal a predisposing cause in either patient although echocardiography disclosed a mitral valve thrombus in the father. After institution of coumadin therapy, the circulatory parameters in the fellow eye of each patient improved. ( info) |
10/292. Cilioretinal artery occlusion with central retinal vein occlusion. BACKGROUND: Combined cilioretinal artery and retinal vein occlusions are infrequently documented retinal vascular disorders of speculative origin. Occlusion of the cilioretinal artery is believed to result from either mechanical compression of the artery as a result of an increase in venous pressure or from a reduction in perfusion pressure in both the cilioretinal and retinal arteries. The ophthalmoscopic and angiographic features of this condition are reviewed. case reports: Two cases of cilioretinal artery occlusion after central retinal vein occlusion are presented, one of which evolved to the development of iris neovascularization. DISCUSSION: The incidence of cilioretinal artery occlusions due to central retinal vein occlusions is infrequently reported in the literature. Excluding those with chronic cystoid macular edema, most patients have a favorable visual outcome. It is possible that the incidence of combined cilioretinal artery and central retinal vein occlusions is grossly underestimated. ( info) |