Multimodal imaging in hereditary retinal diseases

Introduction. In this retrospective study we evaluated the multimodal visualization of retinal genetic diseases to better understand their natural course. Material and Methods. We reviewed the charts of 70 consecutive patients with different genetic retinal pathologies who had previously undergone multimodal imaging analyses. Genomic DNA was extracted from peripheral blood and genotyped at the known locus for the different diseases. Results. The medical records of 3 families of a 4-generation pedigree affected by North Carolina macular dystrophy were reviewed. A total of 8 patients with Stargardt disease were evaluated for their two main defining clinical characteristics, yellow subretinal flecks and central atrophy. Nine male patients with a previous diagnosis of choroideremia and eleven female carriers were evaluated. Fourteen patients with Best vitelliform macular dystrophy and 6 family members with autosomal recessive bestrophinopathy were included. Seven patients with enhanced s-cone syndrome were ascertained. Lastly, we included 3 unrelated patients with fundus albipunctatus. Conclusions. In hereditary retinal diseases, clinical examination is often not sufficient for evaluating the patient's condition. Retinal imaging then becomes important in making the diagnosis, in monitoring the progression of disease, and as a surrogate outcome measure of the efficacy of an intervention

Neovascular glaucoma induced by peripheral retinal ischemia in neurofibromatosis type 1: Management and imaging features

Purpose: To report the case of a young patient affected by neurofibromatosis 1 (NF-1) with peripheral retinal ischemia-induced neovascular glaucoma and the peculiar spectral-domain optical coherence tomography (SD-OCT) features. Material and Methods: A 13-year-old boy affected by NF-1, as diagnosed according to established criteria, was referred with a diagnosis of hypertensive uveitis in his left eye. He underwent a complete ophthalmic examination and comprehensive blood work with viral and immunological tests. The case was documented with fluorescein angiography (FA) and SD-OCT. When the intraocular pressure (IOP) of the left eye decreased and the cornea cleared, FA revealed retinal ischemia and leakage from pathologic retinal vessels. SD-OCT revealed foveal hypoplasia secondary to the complete absence of the retinal nerve fiber layer. Results: Peripheral retinal ischemia-induced neovascular glaucoma was diagnosed. The patient underwent Ahmed valve implantation to control his IOP, and subsequent retinal photocoagulation by argon laser and intravitreal bevacizumab injection were performed to control neovascularization. Discussion: Retinal ischemia in NF-1 might lead to neovascular glaucoma: lowering of the IOP with surgical implantation of an Ahmed valve, regression of neovascularization by argon laser panretinal photocoagulation and intravitreal injection of bevacizumab can be a helpful way to control such a complication

Refractile superficial retinal crystals and chronic retinal detachment: Case report

BACKGROUND: Few previous reports have described the presence of retinal refractile opacities at the macular area in patients presenting with longstanding peripheral retinal detachment. The exact nature of these opacities is unknown. CASE PRESENTATION: Two patients were referred with an abnormal appearance of refractile opacities in the macular area noted during routine examination. Both were found to have longstanding peripheral retinal detachments. Subretinal fluid analysis of one patient revealed the presence of multiple birefringent crystals. We hypothesise that these crystals are the origin of the refractile macular opacities noted. CONCLUSION: This report describes the rare presentation of asymptomatic peripheral retinal detachment by the detection of refractile macular opacities on routine examination. It highlights the importance of meticulous peripheral retinal examination in these cases. The article also describes the findings of the subretinal fluid analysis and discusses the possible hypothesis behind their appearance

Combined reduced fluence photodynamic therapy and intravitreal ranibizumab for polypoidal choroidal vasculopathy

Purpose: We performed a prospective noncomparative study to report the results of reduced fluence photodynamic therapy (PDT) combined with intravitreal ranibizumab in patients with polypoidal choroidal vasculopathy with active exudation and hemorrhage. Methods: Seventeen polypoidal choroidal vasculopathy eyes were treated, and followup for all patients was 12 months. Photodynamic therapy was administered with reduced fluence (exposure time of 70’’) and followed (48 hours later) by intravitreal ranibizumab (0.5 mg in 50 mL). Intravitreal ranibizumab, with or without reduced fluence PDT, was repeated as indicated by clinical and angiographic findings. Results: During the follow-up, the mean best-corrected visual acuity significantly improved from 0.45 ± 0.29 logarithm of the minimum angle of resolution at baseline to 0.29 ± 0.28 logarithm of the minimum angle of resolution at 12 months. The mean total macular volume (documented by optical coherence tomography retinal map examination) decreased from 7.5 ± 1.18 mm3 to 6.7 ± 0.8 mm3. In 95% of the cases, best-corrected visual acuity remained stable or improved. Conclusion: Reduced fluence PDT limits laser exposure, minimizing the risks of PDTinduced adverse effects. Intravitreal injections of ranibizumab 0.5 mg reduced bleeding and leakage in polypoidal choroidal vasculopathy eyes and interfere with rebound upregulation of vascular endothelial growth factor because of PDT-induced choroidal hypoperfusion. Combined treatment may improve treatment outcomes in polypoidal choroidal vasculopathy while minimizing ocular and systemic complications of treatment

Wide-field spectral domain-optical coherence tomography in central serous chorioretinopathy

The aim the study was to describe wide-field spectral-domain optical coherence tomography morphologic relationships of the vitreous, retina, and choroid in central serous chorioretinopathy (CSCR) eyes. Standardized horizontal, vertical, and two oblique (supertemporal to inferonasal and supranasal to inferotemporal) SD-OCT sections were collected for 40 patient with CSCR. For extramacular imaging, images were obtained from eight locations: (1) nasal to the optic disk, (2) extreme nasal periphery, (3) superior to the superotemporal vascular arcade, (4) extreme superior periphery, (5) inferior to the inferotemporal vascular arcade, (6) extreme inferior periphery, (7) temporal to the macula, and (8) extreme temporal periphery. Wide-angle montage images of OCT from equator to equator were composed with a montaging software. Average subfoveal choroidal thickness was 478\ua0\ub1\ua0114\ua0\ub5m (range 232\u2013695\ua0\ub5m) at the macular level, 367\ua0\ub1\ua094\ua0\ub5m in the superior periphery, 257\ua0\ub1\ua0103\ua0\ub5m in the inferior periphery, 431\ua0\ub1\ua0121 and 280\ua0\ub1\ua088\ua0\ub5m in the nasal and in the temporal periphery, respectively. Wide-field EDI-OCT revealed a relative thinning of the inner choroidal layer in the periphery, including the small and medium large vessels, which ranged from 86\ua0\ub5m nasally to 120.1\ua0\ub5m superiorly, with a mean of 98.8\ua0\ub1\ua013.6\ua0\ub5m. Beneath the thinned inner choroidal layer, hyporeflective lumina, corresponding to the outer choroidal layer, were identified in the periphery of all eyes. The outer choroidal layer thickness ranged from 175.5\ua0\ub5m temporally to 235.5\ua0\ub5m superiorly, with a mean of 217.8\ua0\ub1\ua041.4\ua0\ub5m. The novel approach of montaging SD-OCT images to examine relationships between the choroid, retina, and associated structures adjacent to and outside of the macula may have a number of relevant applications in the study of pathologic features of central serous chorioretinopathy