Evaluation of the progression of visual field damage in patients suffering from early manifest glaucoma.

BACKGROUND: This retrospective study aimed to determine how often a perimetric examination should be carried out in order to identify visual field (VF) changes in patients with relatively early manifestation glaucoma. MATERIALS AND METHODS: Patients included had a relatively recent manifestation of primary open-angle glaucoma. Patients with a minimum follow-up of 5 years and a minimum of seven VF tests were included. Statistical analysis was performed to verify the trend of variations in mean defect (MD) over time (PeriData). The results were subjected to a t-test for a comparative analysis of progression of VF changes over time. The annual rate of progression provided by PeriData considering all the VFs analyzed was compared with that obtained on half of the VF examinations during the same follow-up period. An analysis of the MD trend over time was also carried out in relationship to the number of VF tests done and by dividing the sample into a high-frequency group (more than eight VFs) and a low-frequency group (fewer than eight VFs) in the follow-up period. RESULTS: A total of 96 eyes of 96 patients were included, and overall 846 VFs were examined. The paired t-test performed comparing the MD index of all the VFs against half of them did not show statistical significance (P=0.537). The high-frequency group comprised 39 eyes (average VF 11.05±1.91, average time interval 0.76 years) while the low-frequency group comprised 57 eyes (average VF 6.95±0.6, average time interval 1.21 years). The analysis of the MD trend in the high-frequency patients showed significance (P=0.017); the low-frequency group did not show statistical significance (P=0.08). CONCLUSION: The number of VFs in a determined time interval was not significant. However, a greater frequency of tests provides a predictive evaluation of the rate of progression of early manifestation open-angle glaucoma.

Ocular Inflammation: Can It Be a Sign of Activity of Weber-Christian Disease? A Case Report and Review of Literature.

PURPOSE: To present a case of Weber-Christian disease with symptomatic ocular involvment. Weber-Christian disease is a relapsing febrile nodular nonsuppurative panniculitis. It is characterized by malaise and fever accompanied by subcutaneous inflammatory nodules on the trunk and extremities. It can affect several organs, but ocular signs have been infrequently described in literature. METHODS: A 20-year-old woman with Weber-Christian disease presented with severe bilateral ocular inflammation. A complete ophthalmologic examination was performed. RESULTS: Visual acuity was 20/100 in both eyes and slit-lamp examination showed bilateral iridocyclitis. Bilateral cortico-nuclear cataract did not allow funduscopy and she underwent cataract extraction. Retinal vasculitis was detected. CONCLUSIONS: Patients with Weber-Christian disease can develop severe ocular inflammation. A complete ophthalmolgic examination should be done in these patients, especially when ocular involvement is the main sign of the disease. A further understanding of the severity of ocular inflammation proved fundamental in the management of the disease.

Clinical and genetic studies in a family with a new splice-site mutation in the choroideremia gene.

PURPOSE: To describe the clinical and molecular findings of an Italian family with a new mutation in the choroideremia (CHM) gene. METHODS: We performed a comprehensive ophthalmologic examination, fundus photography, macular optical coherence tomography, perimetry, electroretinography, and fluorescein angiography in an Italian family. The clinical diagnosis was supported by western blot analysis of lymphoblastoid cell lines from patients with CHM and carriers, using a monoclonal antibody against the 415 C-terminal amino acids of Rab escort protein-1 (REP-1). Sequencing of the CHM gene was undertaken on genomic DNA from affected men and carriers; the RNA transcript was analyzed with reverse transcriptase-PCR. RESULTS: The affected men showed a variability in the rate of visual change and in the degree of clinical and functional ophthalmologic involvement, mainly age-related, while the women displayed aspecific areas of chorioretinal degeneration. Western blot did not show a detectable amount of normal REP-1 protein in affected men who were hemizygous for a novel mutation, c.819+2T>A at the donor splicing site of intron 6 of the CHM gene; the mutation was confirmed in heterozygosity in the carriers. CONCLUSIONS: Western blot of the REP-1 protein confirmed the clinical diagnosis, and molecular analysis showed the new in-frame mutation, c.819+2T>A, leading to loss of function of the REP-1 protein. These results emphasize the value of a diagnostic approach that correlates genetic and ophthalmologic data for identifying carriers in families with CHM. An early diagnosis might be crucial for genetic counseling of this type of progressive and still untreatable disease.

Evaluation of recurrent hyphema after trabeculectomy with ultrabiomicroscopy 50-80 MHz: a case report.

BACKGROUND: Hyphema is a complication that can occur after glaucoma filtering surgery. Biomicroscopic examination of the anterior segment is commonly used to diagnose it and gonioscopy may provide a useful support to find the source of the haemorrhage. Unfortunately, when the blood hides the structure of the anterior segment the gonioscopic examination fails. In this case we performed ultrabiomiscroscopy with 50-80 MHz probes to overcome the limits of gonioscopy. The use of this technique to study the anterior segment of the eye has previously been reported in literature, but we illustrates its importance for performing a correct diagnosis in a specific case of hyphema. CASE PRESENTATION: We report a case of a sixty-year-old caucasian male with recurrent hyphema in the left eye. The episodes of hyphema were four in two years and the patient came to the hospital for the first time in the last occasion. The past episodes were managed with topical corticosteroids and mydriatic drops. He referred surgical trabeculectomy in both eyes 5 years before the first symptoms and no specific eye trauma before the first episode. The examination of the anterior segment revealed a 2 mm hyphema in the left eye due to blood leakage through the superior iridectomy. Gonioscopy could not identify the source of the haemorrhage. B-scan ultrasound and ultrabiomiscroscopy, with 50-80 MHz probes, were performed. Ultrabiomiscroscopy, mainly with the probe of 80 MHz, provided images of high resolution of the structures of the anterior segment and it allowed the visualization of an abnormal vessel at the inner margin of the trabeculectomy opening, probably responsible of the recurrent hyphema. CONCLUSION: Ultrabiomicroscopy proved to be a useful diagnostic technique for identifying the cause of the recurrent hyphema when other examination techniques are not applicable.

Intravitreal ranibizumab and laser photocoagulation in the management of idiopathic juxtafoveolar retinal telangiectasia type 1: a case report.

BACKGROUND: Idiopathic juxtafoveolar retinal telangiectasia (IJRT) type 1 represents an uncommon cause of congenital unilateral visual loss and it typically affects males. Decrease in visual acuity is caused by serous and lipid exudation into the fovea with cystoid macular edema. In some cases, spontaneous resolution may be observed, but when there is a progressive loss of visual acuity, laser photocoagulation is often necessary. This treatment is not always successful and therapy for this condition is still controversial. CASE PRESENTATION: A 57-year-old man referred a 2-month history of blurred and distorted vision in the right eye. Best-corrected visual acuity was 20/50 in the right eye and 20/20 in the left eye. Fundus examination showed temporal macular edema, confirmed by optical coherence tomography. Fluorescein angiography showed a localized area of hyperfluorescence probably due to telangiectasia type 1 located below the inferior temporal area of the fovea. A combined therapy of intravitreal ranibizumab injection and laser photocoagulation was performed. Visual acuity improved from 20/50 to 20/32 and the therapy was well tolerated by the patient. After 3 years of follow-up, both visual acuity and fundus examination were stable. CONCLUSIONS: This case suggests that the combined use of ranibizumab and laser photocoagulation may be considered an effective treatment for JRT type 1, leading to an improvement in both visual acuity and macular edema. We believe that intravitreal ranibizumab injection associated with laser photocoagulation should be considered as treatment for IJRT type 1.