Functional and anatomic response of the retina and the choroid to intravitreal bevacizumab for macular edema.

Purpose: This study evaluated the rate of change of best corrected visual acuity (BCVA), central retinal sensitivity, and retinal and choroidal thickness in patients with macular edema after intravitreal bevacizumab. Methods: This was a prospective, nonrandomized, interventional study. Thirty-four consecutive eyes (34 patients) with macular edema were included in the study. Choroidal neovascularization was present in 21 cases, stage 1 retinal angiomatous proliferation in 6 cases, branch retinal vein occlusion in 4 cases, and diabetic edema in 3 cases. Evaluation of BCVA (Early Treatment Diabetic Retinopathy Study [ETDRS] logarithm of the minimum angle of resolution [LogMAR]), central retinochoroidal thickness (RCT) at standardized A-scan, combined optical coherence tomography/microperimetric assessment of central retinal thickness (RT), central scotoma, and fixation behavior was performed during 12 months after treatment. Choroidal thickness was considered as the difference between RCT and RT. All patients received two initial intravitreal bevacizumab injections (1.25 mg/0.05 mL) at a 1-month interval. Results: BCVA and RT during follow-up were significantly better than at baseline. BCVA was improved of 0.32 +/- 0.3 LogMAR (P < 0.001) at month 1,0.18 +/- 0.4 LogMAR (P = 0.05) at month 6, and 0.14 +/- 0.2 (P = 0.09) at month 12. RT was reduced by 172.9 +/- 192.8 mu m (P < 0.001) at month 1,157.7 +/- 134.2 mu m (P = 0.003) at month 6, and 164.3 +/- 122.3 (P = 0.002) at month 12. Mean retinal sensitivity significantly increased during the first month; it decreased afterward, but an improvement if compared with baseline was present at each visit during follow-up. In 23.5% of cases, a choroidal thinning was present during follow-up, and in this group visual acuity at baseline and final visual improvement were significantly greater if compared with patients showing a choroidal thickening. Conclusion: Intravitreal bevacizumab for macular edema determines significant functional and anatomic improvement at the 12-month follow-up. Visual acuity at baseline and following treatment could be influenced by the choroidal involvement

Intravitreal triamcinolone, bevacizumab and pegaptanib for occult choroidal neovascularization.

PURPOSE: To evaluate best-corrected visual acuity (BCVA) and foveal thickness (FT) changes in occult subfoveal choroidal neovascularization (CNV) from age-related macular degeneration (AMD) after intravitreal bevacizumab (IVB, 1.25 mg/0.05 ml), pegaptanib (IVP, 0.3 mg/0.09 ml) and triamcinolone acetonide (IVTA, 4 mg/0.1 ml) injected on an as needed basis. METHODS:   Retrospective, interventional, comparative study. BCVA (Early Treatment Diabetic Retinopathy Study LogMAR) and FT by optical coherence tomography (OCT) were evaluated during 12 months from first treatment. Patients were retreated if signs of neovascular activity were still present on angiography or OCT. RESULTS: Forty-eight eyes received IVB, 43 eyes received IVP, 52 eyes received IVTA. BCVA and FT at baseline were 1.22 ± 0.49 LogMAR and 410.2 ± 41.83 μm in the IVB group, 1.25 ± 0.43 LogMAR and 452.3 ± 44.83 μm in the IVP group and 1.31 ± 0.4 LogMAR and 456.6 ± 48.27 μm in the IVTA group. BCVA and FT improved in the three groups during follow-up. A significantly greater improvement of BCVA was present at month-3, month-6 and at month-12 in the IVB and IVP groups (p = 0.01). Improvement of FT was greater in the IVTA group at month-3 (p = 0.02), while it was greater in the anti-Vascular Endothelial Growth Factor (VEGF) groups at month-6 and month-12 (p = 0.01). A postoperative increase of intraocular pressure was detected in 9/52 (17.3%) eyes treated with IVTA, and in two cases it was resistant to topical therapy. CONCLUSION:   Intravitreal injection of anti-VEGF drugs administered on an as needed basis for AMD-related occult CNVs provided functional and anatomic improvement during 12 months of follow-up

Novel USH1G homozygous variant underlying USH2-like phenotype of Usher syndrome

PURPOSE: Usher syndrome (USH) is an autosomal recessive disorder characterized by congenital sensorineural hearing impairment and retinitis pigmentosa. Classification distinguishes three clinical types of which type I (USH1) is the most severe, with vestibular dysfunction as an added feature. To date, 15 genes and 3 loci have been identified with the USH1G gene being an uncommon cause of USH. We describe an atypical USH1G-related phenotype caused by a novel homozygous missense variation in a patient with profound hearing impairment and relatively mild retinitis pigmentosa, but no vestibular dysfunction. METHODS: A 26-year-old female patient with profound congenital sensorineural hearing loss, nyctalopia and retinitis pigmentosa was studied. Audiometric, vestibular and ophthalmologic examination was performed. A panel of 13 genes was tested by next-generation sequencing (NGS). RESULTS: While the hearing loss was confirmed to be profound, the vestibular function resulted normal. Although typical retinitis pigmentosa was present, the age at onset was unusually late for USH1 syndrome. A novel homozygous missense variation (c.1187T>A, p.Leu396Gln) in the USH1G gene has been identified as causing the disease in our patient. CONCLUSIONS: Genetic and phenotypic heterogeneity are very common in both isolated and syndromic retinal dystrophies and sensorineural hearing loss. Our findings widen the spectrum of USH allelic disorders and strength the concept that variants in genes that are classically known as underlying one specific clinical USH subtype might result in unexpected phenotypes

Choroidal osteoma (osseous choristoma): an atypical case.

A case of choroidal osteoma presenting in a 22-year-old girl is reported. The tumour, unilateral and in a juxtapapillary site, appeared markedly elevated on the retinal plane, not flat or slightly elevated as in previous reports. Visual acuity was not affected, and there was a complete absence of subjective symptoms. Echography, fluorangiography, computerised tomography, and visual field tests were performed. Echography is the best method for identifying and differentiating this lesion from a malignant tumour