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

Intraoperative SD-OCT in macular surgery

Intraoperative use of spectral-domain optical coherence tomography (SD-OCT) using an OCT-mounted surgical microscope could provide additional information to predict visual outcomes of macular surgery and identify intraoperative changes in the macular anatomy that affect visual recovery

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

Wide-field spectral domain optical coherence tomography

Purpose: To describe wide-field spectral domain optical coherence tomography morphologic relationships of the vitreous, retina, and choroid in healthy and pathologic eyes. Methods: Standardized horizontal, vertical, and two oblique (supertemporal to inferonasal and supranasal to inferotemporal) spectral domain optical coherence tomography sections were collected for each patient. For extramacular imaging, images were obtained from 8 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 optical coherence tomography from equator-to-equator were composed with a montaging software. Results: Wide-field spectral domain optical coherence tomography scans were obtained in 10 healthy subjects, in 7 patients with central serous chorioretinopathy, in 5 patients with wet age-related macular degenerations, in 5 patients with dry age-related macular degenerations, in 4 patients with retinitis pigmentosa, and in 1 patient with acute exudative polymorphous vitelliform maculopathy. Conclusion: The novel approach of montaging spectral domain optical coherence tomography 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 vitreoretinal interface, paramacular and macular pathologic features

Early and late inner retinal changes after inner limiting membrane peeling

Pars plana vitrectomy and inner limiting membrane (ILM) peeling are standard procedures for macular hole and epiretinal membrane surgery. However, ILM peeling is known to cause mechanical traumatic changes to the retinal nerve fiber layer. Recently there have been numerous reports of anatomical changes in the macula after ILM removal. A comprehensive review of the literature. The earliest change in the macula after ILM peeling is post-operative swelling of the arcuate retinal nerve fiber layer (SANFL), which disappears within the 3 month; the swelling is not detected on biomicroscopic fundus examination but appears as hypoautofluorescent arcuate striae in the macular region on infrared and autofluorescence imaging, with corresponding hyperreflectant swelling demonstrated on spectral-domain optical coherence tomography (OCT). SANFL is followed by dissociated optic nerve fiber layer defect, faintly visible on fundus examination and corresponding on OCT to "dimples" in the inner retinal layers. The en face tomographic aspect of this defect appears as concentric macular dark spots. Post-operative foveal displacement toward the optic disc might be responsible for the stretching and thinning of the retinal parenchyma in the temporal subfield and the thickening of the nasal macula. This shortening of the papillofoveal distance after surgery is probably secondary to axonal transport and contractility alterations in the nerve fiber layer, which might also account for apoptotic and atrophic degeneration of the peripapillary retinal nerve fiber layer. Ganglion cells do not seem to be affected by ILM peeling, even if the ganglion cell complex loses some volume because of trauma to the M\ufcller cells contained in the ganglion cell layer. Despite its clear indication in macular hole and epiretinal membrane surgery, ILM peeling is a traumatic procedure that has acute effects on the underlying inner retinal layers. Further investigation of these subclinical changes may assist in aiding the development of minimally traumatic techniques for ILM removal. \ua9 2013 Springer Science+Business Media Dordrecht

Retinal astrocytic hamartoma

Purpose: To propose a classification of retinal astrocytic hamartoma based on spectral domain optical coherence tomography and correlate each class with systemic manifestations of tuberous sclerosis complex. Methods: Retrospective chart review conducted at four international referral medical retina centers. There were 43 consecutive patients with an established diagnosis of tuberous sclerosis complex based on presence of at least 2 major or 1 major and 2 minor features of the diagnostic criteria. Clinical and spectral domain optical coherence tomography features regarding retinal astrocytic hamartoma were documented. Results: The mean patient age at presentation was 16.2 years. The retinal astrocytic hamartoma was classified as Type I (n 41), Type II (n 25), Type III (n 20), or Type IV (n 12). Patients with Type II showed greater number of cutaneous fibrous plaques (odds ratio 64.8; 92% confidence interval: 64.2-65; P < 0.001); those with Type III displayed higher incidence of subependymal giant-cell astrocytomas (odds ratio 43.2; 95% confidence interval: 43.0-43.3; P < 0.001); and those with Type IV showed higher incidence of pulmonary lymphangiomyomatosis (odds ratio 126; 95% confidence interval: 122-128; P < 0.001). Conclusion: Retinal astrocytic hamartoma can be classified into four morphologic groups, based on spectral domain optical coherence tomography. There are important systemic tuberous sclerosis complex correlations with each class