Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report.

BACKGROUND: Axenfeld-Rieger syndrome (ARS) is characterized by bilateral congenital abnormalities of the anterior segment of the eye associated with abnormalities of the teeth, midface, and umbilicus. Most cases of ARS are caused by mutations in the genes encoding PITX2 or FOXC1. Here we describe a family affected by a severe form of ARS. CASE PRESENTATION: Two members of this family (father and daughter) presented with typical ARS and developed severe glaucoma. The ocular phenotype was much more severe in the daughter than in the father. Magnetic resonance imaging (MRI) detected an aggressive form of meningioma in the father. There was no mutation in the PITX2 gene, determined by exon screening. We identified an intragenic deletion by quantitative genomic PCR analysis and characterized this deletion in detail. CONCLUSION: Our findings implicate the first intragenic deletion of the PITX2 gene in the pathogenesis of a severe form of ARS in an affected family. This study stresses the importance of a systematic search for intragenic deletions in families affected by ARS and in sporadic cases for which no mutations in the exons or introns of PITX2 have been found. The molecular genetics of some ARS pedigrees should be re-examined with enzymes that can amplify medium and large genomic fragments.

Ocular neovascularization in a patient with Fanconi anemia.

CASE REPORT: An 11-year-old girl diagnosed with Fanconi anemia was referred to us for redness and pain in her right eye. Findings in the right eye included visual acuity of counting fingers, neovascular glaucoma, vitreous hemorrhage, optic disc neovascularization, and features of peripheral ischemic retinopathy. Findings in the left eye included peripheral retinal neovascularization and areas of retinal capillary nonperfusion. COMMENTS: Patients with Fanconi anemia may develop ocular neovascularization with subsequent severe visual loss due to vitreous hemorrhage or neovascular glaucoma. Regular ophthalmic examination, including ophthalmoscopy and fluorescein angiography in selected cases, is recommended in such patients.

Infectious optic neuropathies: a clinical update.

Different forms of optic neuropathy causing visual impairment of varying severity have been reported in association with a wide variety of infectious agents. Proper clinical diagnosis of any of these infectious conditions is based on epidemiological data, history, systemic symptoms and signs, and the pattern of ocular findings. Diagnosis is confirmed by serologic testing and polymerase chain reaction in selected cases. Treatment of infectious optic neuropathies involves the use of specific anti-infectious drugs and corticosteroids to suppress the associated inflammatory reaction. The visual prognosis is generally good, but persistent severe vision loss with optic atrophy can occur. This review presents optic neuropathies caused by specific viral, bacterial, parasitic, and fungal diseases.

Chorioretinal involvement in patients with West Nile virus infection.

PURPOSE: To characterize and analyze the chorioretinal manifestations of West Nile virus (WNV) infection. DESIGN: Prospective, noncomparative case series. PARTICIPANTS: Twenty-nine consecutive patients with serologically confirmed WNV infection in the setting of an outbreak of the disease. METHODS: The average duration of systemic symptoms before ophthalmic examination was 10 days (range, 2-30 days). All participants underwent a detailed ophthalmic examination at presentation and regularly throughout follow-up, including dilated biomicroscopic fundus examination, fundus photography, and fluorescein angiography. RESULTS: A typical multifocal chorioretinitis was observed in 20 of 29 patients (69%) bilaterally at presentation and developed later during follow-up in 3 patients (10.3%), bilaterally (n = 1) or unilaterally (n = 2). Multifocal chorioretinitis was associated with mild vitreous inflammatory reaction in all cases. Other findings included intraretinal hemorrhages (21 patients [72.4%]), white-centered retinal hemorrhages (7 patients [24.1%]), focal retinal vascular sheathing (3 patients [10.4%]), marked diffuse retinal arterial sheathing (1 patient [3.4%]), retinal vascular leakage (5 patients [17.2%]), optic disc swelling (2 patients [6.9%]), optic disc staining (6 patients [20.7%]), segmental zones of retinal pigment epithelium changes (1 patient [3.4%]), and nonproliferative diabetic retinopathy (7 patients [24.1%]). The posterior segment findings related to WNV disease had a self-limited course in all patients. CONCLUSIONS: Chorioretinal involvement, frequently asymptomatic and self-limited, is common in patients with acute WNV infection. The unique pattern of multifocal chorioretinitis in patients with systemic symptoms suggestive of WNV can help to establish the diagnosis while serologic testing is pending. Therefore, a systematic ocular evaluation, including dilated fundus examination and fluorescein angiography in selected cases, is recommended in patients with clinically suspected WNV infection.

Primary intravitreal triamcinolone acetonide for diabetic massive macular hard exudates.

PURPOSE: To evaluate the efficacy of intravitreal triamcinolone acetonide as treatment for massive macular hard exudates in diabetic patients. METHODS: The study was a prospective, noncomparative, interventional case series of 12 eyes (12 patients) with massive hard exudates involving the fovea that had no previous focal laser treatment. A single intravitreal injection of 4 mg of triamcinolone acetonide in 0.1 mL was performed. Visual acuity and evolution of hard exudates and fluorescein leakage were assessed. Potential complications were monitored, including ocular hypertension and endophthalmitis. RESULTS: The follow-up period ranged from 6 to 12 months (mean, 8.25 months). Visual acuity improved significantly at examinations performed 7 days (P = 0.036), 1 month (P = 0.008), 3 months (P = 0.008), and 6 months (P = 0.003) after the injection. Visual acuity improved by at least 2 Snellen lines in 4 patients (33%). However, no eyes with initial visual acuity worse than 20/100 improved to better than 20/100. Foveal hard exudates resolved completely in 6 eyes (50%) and partially in 6 eyes (50%). Fluorescein leakage decreased and a variable proportion of microaneurysms disappeared in all cases. Intraocular pressure elevation occurred in 3 eyes (25%) and was successfully treated by topical medication. No other complications, such as endophthalmitis, were recorded. CONCLUSION: Intravitreal injection of triamcinolone acetonide appears to be beneficial for reducing hard exudates, decreasing fluorescein leakage, and significantly improving visual acuity in patients with diabetic massive hard exudates. Visual improvement may not be important due to profound anatomical impairment caused by hard exudate deposition. Further studies with a larger number of patients are required to assess the long-term efficacy and safety and the need for retreatment.