Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation.

OBJECTIVE: To describe a novel missense mutation in the antithrombin gene associated with antithrombin deficiency type I in a 40-year-old man with retinal vein occlusion. DESIGN: Investigational case report. RESULTS: Ophthalmoscopy of the right eye showed hemicentral retinal vein occlusion. The patient's medical history was negative for glaucoma or cardiovascular risk factors. Screening for thrombophilic disorders revealed antithrombin deficiency type I. Based on a genetic analysis, a novel missense mutation of a transition of guanosine to cytosine at nucleotide position 9840 was detected, predicting the replacement of aspartic acid by histidine encoded by codon 366 (D366H) in exon 5. CONCLUSIONS: Selective screening may be helpful in identifying patients with retinal vein occlusion with thrombophilic defects. When ordering laboratory tests in patients with retinal vein occlusion, antithrombin deficiency type I should be considered in the differential diagnosis. CLINICAL RELEVANCE: Our results contribute to a better understanding of the molecular bases of antithrombin deficiency, adding a novel entry for the molecular defects causing antithrombin deficiency type I. Moreover, the identification of this thrombophilic disorder in retinal vein occlusion may be relevant to the issue of the initiation and duration of oral anticoagulant therapy.

Training the adult amblyopic eye with "perceptual learning" after vision loss in the non-amblyopic eye.

We recently reported acuity development in the amblyopic eye of a 60-year-old patient after loss of vision in her non-amblyopic eye. Here, we focus on the training that we implemented, based on new insights from psychophysical procedures aiming at functional visual improvement of adults ("perceptual learning"). We alternately used the following procedures: grating acuity (Teller-Cards); contrast sensitivity (Vistech-Charts); two spatial localization tests (vertical alignment, pointing); and labyrinth patterns for a eye-hand coordination exercise. One month without intervention was followed by six months of training and two blocks of pleoptic treatment. Clinical parameters were assessed monthly. Besides acuity gain, we observed enhanced grating resolution and contrast sensitivity, decreased alignment distortions, pointing shifts, mainly after pleoptics, and more efficient labyrinth tracing. A questionnaire reflected the patient's perception of the changes. These data confirm the plasticity of the adult amblyopic system, be it spontaneous due to the loss of the non-amblyopic eye or caused by the intervention or both. Further experience is necessary to isolate the role of the intervention. Our results also underline the limitation of adult plasticity, emphasizing the importance of early diagnosis and treatment of amblyopia.

Massive subhyaloidal hemorrhage associated with severe PAI-1 deficiency.

PURPOSE: To report an association between spontaneous subhyaloidal hemorrhage and severe plasminogen activator inhibitor-1 (PAI-1) deficiency. METHODS: Case report. RESULTS: A 29-year-old woman presented with sudden, painless visual loss to hand motion in her right eye. Ophthalmoscopy showed a massive subhyaloidal hemorrhage. The patients' medical history was negative for cardiovascular risk factors, trauma, infections or bleeding complications. Further investigation into possible causes revealed hyperfibrinolysis secondary to severe PAI-1 deficiency. The non-clearing subhyaloidal hemorrhage was successfully treated by pars plana vitrectomy, and her visual acuity improved to 20/20. CONCLUSION: When ordering laboratory tests in patients with spontaneous subhyaloidal hemorrhage to rule out fibrinolytic disorders, severe PAI-1 deficiency should be considered in the differential diagnosis. Selective screening may be helpful in identifying ophthalmologic patients with hyperfibrinolysis, especially in young individuals with subhyaloidal hemorrhages in the absence of other recognized risk factors.

Three-dimensional rotational dacryocystography for imaging of the lacrimal draining system and adjacent anatomical structures.

PURPOSE: A three-dimensional (3D) rotational angiography system was used to perform 3D dacryocystography (3DRD) as an adjunct to the conventional dacryocystography assisted by digital subtraction angiography (DSA). METHODS: In 15 patients with severe epiphora, 3DRD was performed after inconclusive results from DSA-assisted dacryocystography. RESULTS: 3DRD was technically feasible and well tolerated in all 15 cases. In 5 out of 15 patients, 3DRD, in contrast to DSA-assisted dacryocystography, distinguished clearly between stenotic lesions of the canaliculi, lacrimal sac or nasolacrimal duct. In 10 cases, the simultaneous display of tear ducts and adjacent structures of the nasal cavity provided critical anatomical information for decision making between endoscopic and open dacryocystorhinostomy. CONCLUSIONS: 3DRD is technically feasible and adds important information to conventional DSA-assisted dacryocystography.

Unilateral exophthalmos associated with severe fibrous dysplasia.

Fibrous dysplasia is a benign developmental anomaly of bone, often affecting craniofacial bones. We report on a 9-year-old boy, who presented for routine checkup. Clinical examination revealed unilateral exophthalmos of his left eye without decrease of visual acuity or double vision. Radiologic studies showed characteristic extensive changes of fibrous dysplasia involving the left frontal bone, left orbital bones, maxillary and sphenoid bones. The patient was started on conservative therapy and the condition of the affected eye remained stable. As fibrous dysplasia of the orbital bones can be a cause of significant dysfunction and a treatable cause of blindness, early diagnosis is very important. These patients are most likely to present with complaints of facial asymmetry, including axial, vertical, or horizontal displacement of the globe, or visual loss. Therefore the ophthalmologist plays an important role in the early diagnosis of fibrous dysplasia.

Factor XII deficiency: a thrombophilic risk factor for retinal vein occlusion.

PURPOSE: Factor XII deficiency is among the coagulation disorders that have been implicated in major thromboembolic events. However, little is known about an association of this coagulation disorder and retinal vessel occlusion. In the current study, we investigated the prevalence of factor XII deficiency in patients with retinal vein occlusion (RVO) with reference to age and cardiovascular risk factors. DESIGN: Cross-sectional study. METHODS: A cohort of 150 consecutive patients with central or branch retinal vein occlusion and 135 subjects matched for age and gender were prospectively screened for factor XII deficiency. Both cohorts were divided into two subgroups (<= 45 or >45 years), depending on the patients' age at the time of the RVO or a previous thromboembolic event. RESULTS: Overall, factor XII deficiency was found to be present in 14 (9.3%) of 150 patients and in 1 (0.7%) of 135 controls (P =.0009). Patient age <= 45 years at the time of the RVO or a previous thromboembolic event was associated with a high prevalence of factor XII deficiency (18%). By contrast, only 5 (5%) of 100 patients >45 years (P =.016) and none of the young controls (P =.0001) tested positive for factor XII deficiency. The prevalence among patients >45 years was similar to that found in age-matched controls (2%; P =.66). CONCLUSIONS: Our results indicate that factor XII deficiency is highly prevalent in RVO patients <= 45 years of age. By contrast, the prevalence of factor XII deficiency in RVO patients older than 45 years appears to be similar to that seen in healthy individuals.

Recurrent retinal vein occlusion in a patient with increased plasma levels of histidine-rich glycoprotein.

PURPOSE: To report an association between retinal vein occlusion and increased plasma levels of histidine-rich glycoprotein. DESIGN: Observational case report. METHODS: A 56-year-old woman presented with sudden and painless decrease of visual acuity of her right eye. Indirect ophthalmoscopy revealed retinal vein occlusion. She had experienced central retinal vein occlusion in this eye 6 years earlier. RESULTS: The patient's medical history was negative for cardiovascular risk factors. Further investigation into possible causes revealed increased values for histidine-rich glycoprotein. CONCLUSIONS: When ordering laboratory tests in patients with retinal vein occlusion to rule out coagulation disorders, increased plasma levels of histidine-rich glycoprotein should be considered in the differential diagnosis. Selective screening may be helpful in identifying retinal vein occlusion patients with thrombophilic defects, especially in young individuals with recurrent retinal vein occlusion in the absence of recognized cardiovascular risk factors.

High prevalence of resistance to APC in young patients with retinal vein occlusion.

Resistance to activated protein C (APC) is among the coagulation disorders that have been implicated in retinal vein occlusion. However, since retinal vascular occlusions may be due to a combination of several mechanisms, the question of whether thrombophilic anomalies are pathogenic for this disorder remains controversial. In the current study, we investigated the prevalence of APC resistance in patients with retinal vein occlusion with reference to age and various cardiovascular risk factors. A cohort of 142 consecutive patients with retinal vein occlusion and a control group of 128 subjects matched for age, sex and several risk factors were screened for resistance to APC. Both cohorts were divided into two subgroups, according to the patient's age (< or =45 or >45 years) at the time of the retinal vein occlusion or a previous thromboembolic event. The proportion of individuals with resistance to APC was higher in the patient group (13 of 142; 9.1%) when compared to controls (6 of 128; 4.7%). Moreover, patient age < or =45 years by the time of the retinal vein occlusion or a previous thromboembolic event was significantly associated with a high prevalence of APC resistance (17%). By contrast, resistance to APC was present in 5 of 95 cases (5.3%) in the patient group >45 years and in 4 of 83 (4.8%) young controls. Our results indicate that APC resistance is highly prevalent in patients with retinal vein occlusion at age < or =45 years and/or with a history of thrombosis at this age. By contrast, the prevalence of APC resistance in patients who suffered a retinal vein occlusion when they were older than 45 years and had no history of thromboembolism appears to be similar to that seen in healthy control subjects or in the normal population. Selective screening may be helpful in identifying retinal vein occlusion patients with thrombophilic defects.