Usher syndrome in a patient with Ellis–van Creveld syndrome

2019 ◽  
Vol 30 (2) ◽  
pp. NP38-NP40
Author(s):  
Francesco Romano ◽  
Giorgia Carlotta Albertini ◽  
Alessandro Arrigo ◽  
Pier Pasquale Leone ◽  
Francesco Bandello ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Visual Acuity ◽  
Retinitis Pigmentosa ◽  
Usher Syndrome ◽  
Fundus Photography ◽  
Optical Coherence ◽  
Genetic Tests ◽  
Ellis Van Creveld Syndrome ◽  
Atypical Presentations

Purpose: To describe a case of Ellis–van Creveld syndrome with concomitant Usher syndrome. Methods: A 24-year-old lady with a diagnosis of Ellis–van Creveld syndrome came to our attention in 2015 complaining of nyctalopia. She underwent yearly ophthalmologic examinations, including visual acuity, dilated fundoscopy, optical coherence tomography and colour fundus photography. Results: On the day of her first examination, her visual acuity was 20/20, whereas fundus examination revealed diffuse peripheral retinal atrophy with pigmented bone spicules, waxy pallor of the disc and macular sparing in both eyes, compatible with retinitis pigmentosa. Due to the severe retinitis pigmentosa phenotype for the age and the concomitant neurosensory hearing loss, ancillary electrophysiological and genetic tests were requested. At the end of follow-up, visual function remained stable, with electroretinogram tests confirming the peripheral dysfunction. Interestingly, next generation sequencing test revealed a mutation in USH2A gene, suggestive of an overlapping Usher syndrome. On optical coherence tomography angiography, all plexuses appeared altered, with some degree of impairment also in the choriocapillaris of the spared macula. Conclusion: Our report emphasizes the advantage of new genetic tests to investigate atypical presentations of known retinal disorders found in syndromic settings. In addition, we speculate that the underlying ciliopathy might possibly aggravate the phenotype of this case of Usher syndrome.

scholarly journals Bilateral idiopathic choroidal folds

2014 ◽  
Vol 155 (27) ◽  
pp. 1083-1086
Author(s):  
Milán Tamás Pluzsik ◽  
Miklós Schneider
Keyword(s):  
Optical Coherence Tomography ◽  
Visual Acuity ◽  
Fluorescein Angiography ◽  
Fundus Photography ◽  
Fundus Examination ◽  
Optical Coherence ◽  
Blurred Vision ◽  
History Of ◽  
Choroidal Folds

Choroidal folds present as parallel bright and dark lines, which may be detected with funduscopy. Optical coherence tomography, red free fundus photography, autofluorescence and fluorescein angiography may be also helpful to establish the diagnosis. The authors present the case of a 70-year-old male who was evaluated because of a 1-month history of blurred vision on his right eye. Dilated fundus examination revealed choroidal folds in both eyes, which failed to affect visual acuity. No neurogical pathologies were found. There was no change in the patient condition durind a follow-up period of 6 months. The authors note that choroidal folds are often not recognized because they are usually asymptomatic. There are several possible causes which should be considered. The diagnosis of idiopathic choroidal folds is based on the exclusion of other pathologies. Observation of the patient’s visual acuity and monitoring for fundus changes are needed. Orv. Hetil., 2014, 155(27), 1083–1086.

scholarly journals Bilateral Retinal Angiomatous Proliferation in a Variant of Retinitis Pigmentosa

2019 ◽  
Vol 2019 ◽  
pp. 1-5
Author(s):  
G. Aloe ◽  
C. M. De Sanctis ◽  
C. Strafella ◽  
R. Cascella ◽  
F. Missiroli ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Visual Acuity ◽  
Retinitis Pigmentosa ◽  
Retinal Angiomatous Proliferation ◽  
Intravitreal Injections ◽  
Fundus Photography ◽  
Optical Coherence ◽  
First Case ◽  
Type 3 ◽  
Sd Oct

Purpose. To describe the first case of bilateral retinal angiomatous proliferation (RAP) in a patient with a variant of retinitis pigmentosa (RP). Case Report. An 85-year-old man with RP presented with visual acuity decrease and metamorphopsia in the left eye (LE). Fundus examination revealed typical signs of RP in both eyes, associated with intraretinal macular hemorrhage in the LE. Multimodal imaging, using Colour fundus Photography, Fluorescein (FA), and Indocyanine Green Angiography (ICGA) as well as Spectral-Domain Optical Coherence Tomography (SD-OCT) and Optical Coherence Tomography Angiography (OCTA), revealed a type 3 neovascular lesion in the involved eye. Genetic testing (NGS analysis) was performed to search for genetic variants correlated with the disease phenotype displayed by the patient. The patient was treated with intravitreal injections of bevacizumab, according to a fixed protocol of bimonthly injections plus a booster dose at second month. After 9 months, he was referred for visual acuity decrease and metamorphopsia in the fellow eye, where SD-OCT/OCTA showed a type 3 neovascular lesion in the right eye (RE). He was scheduled for intravitreal injections of bevacizumab. In both eyes, treatment with intravitreal bevacizumab was successful.

scholarly journals Correlation between optical coherence tomography and multifocal electroretinogram findings with visual acuity in retinitis pigmentosa

2013 ◽  
pp. 2073 ◽  
Author(s):  
Marilita Moschos ◽  
Irini Chatziralli ◽  
George Verriopoulos ◽  
Aristeides Triglianos ◽  
Dimitrios Ladas ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Visual Acuity ◽  
Retinitis Pigmentosa ◽  
Multifocal Electroretinogram ◽  
Optical Coherence

scholarly journals Changes in Retinal Vasculature and Thickness After Femtosecond Laser-assisted Cataract Surgery and Conventional Cataract Surgery Using Optical Coherence Tomography Angiography

2022 ◽  
Author(s):  
Hong Zhang ◽  
Liangzhang Tan ◽  
Fang Tian ◽  
Xue Gong ◽  
Lu Chen ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Visual Acuity ◽  
Femtosecond Laser ◽  
Cataract Surgery ◽  
Optical Coherence Tomography Angiography ◽  
Macular Thickness ◽  
Retinal Vasculature ◽  
Optical Coherence ◽  
Age Related

Abstract Purpose To assess the changes in retinal vasculature and thickness after femtosecond laser-assisted cataract surgery (FLACS) using optical coherence tomography angiography (OCTA).Methods Fifty-six eyes of 56 patients with age-related cataract were enrolled in this study. Patients were divided into FLACS or conventional phacoemulsification surgery (CPS) due to the choice of operation. Vessel density (VD) and thickness at the macular area and optic nerve head (ONH) were checked by OCTA at baseline and at 1 day, 1 month and 3 months after cataract surgery.Results In the FLACS group: The radial peripapillary capillary (RPC) density displayed a significant reduction during the follow-up (P < 0.05), even when the retinal nerve fiber layer (RNFL) thickness was not significantly changed. There was a significant negative correlation between the changes in RPC density and femtosecond laser-assisted pre-treatment time (FLAPT) at 1 day and 1 month after cataract surgery respectively (both P < 0.05). At 3 months postoperatively, the macular thickness had a significant increase in all regions (all P < 0.05). In the CPS group, the retinal VD and thickness did not show statistically significant changes in all regions during the follow-up (all P > 0.05). However, the best corrected visual acuity (BCVA) was significantly improved in both groups postoperatively (both P < 0.001).Conclusions OCTA provided a promising analysis of retinal vascular alterations, demonstrating the reduction of RPC density and the increase of macular thickness after FLACS. However, these changes had no effect on the improvement of visual acuity after cataract surgery.

Best Clinical Practice for Age-Related Macular Degeneration Imaging

2019 ◽  
Vol 3 (3) ◽  
pp. 167-171 ◽  
Author(s):  
K. Bailey Freund ◽  
Cynthia Toth ◽  
Marco Zarbin
Keyword(s):  
Optical Coherence Tomography ◽  
Macular Degeneration ◽  
Fundus Autofluorescence ◽  
Age Related Macular Degeneration ◽  
Fundus Photography ◽  
Optical Coherence ◽  
Autofluorescence Imaging ◽  
Clinical Practices ◽  
Age Related

Purpose: To identify best clinical practices for macular degeneration imaging. Methods: We reviewed best clinical practices for imaging patients with age-related macular degeneration. These recommendations are based on different levels of evidence (I-III). Results: The type of imaging needed depends to some degree on the clinical scenario: first visit vs follow-up visit vs poorly responsive patient. Conclusions: Imaging technologies that may be useful include optical coherence tomography, fundus photography, fundus autofluorescence imaging, fluorescein angiography, indocyanine green angiography, and optical coherence tomography angiography.

Optical Coherence Tomography Findings in Patients with Retinitis Pigmentosa and Low Visual Acuity

2010 ◽  
Vol 41 (1) ◽  
pp. 35-39 ◽  
Author(s):  
Vlassis G. Grigoropoulos ◽  
John Emfietzoglou ◽  
Pantelis Nikolaidis ◽  
Klio Chatzistefanou ◽  
John Vergados ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Visual Acuity ◽  
Retinitis Pigmentosa ◽  
Optical Coherence

scholarly journals Ten Years of Severe Vitreomacular Traction Syndrome without Functional Damage Demonstrated by Optical Coherence Tomography

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Michele Reibaldi ◽  
Teresio Avitabile ◽  
Maurizio Giacinto Uva ◽  
Francesco Occhipinti ◽  
Mario Toro ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Visual Acuity ◽  
Vitreomacular Traction ◽  
First Year ◽  
Optical Coherence ◽  
Vitreomacular Adhesion ◽  
Vitreomacular Traction Syndrome ◽  
History Of ◽  
Functional Features

Introduction.To describe anatomical and functional features in one patient with 10 years of severe vitreomacular traction syndrome (VTS) without functional damage demonstrated by optical coherence tomography (OCT).Patient and Methods.One patient with a history of 10 years VTS, with best-corrected visual acuity of 20/32, was followed up with OCT. Follow-up examinations, 3 months for the first year after diagnosis and every 6 months for the subsequent years, were performed.Results.Follow-up examinations showed no change anatomically and functionally. Far and near visual acuity was unchanged. OCT by Heidelberg Spectralis did not evidence differences from Stratus OCT images.Conclusion.VTS can be stable anatomically and functionally for 10 years. OCT is a valuable diagnostic tool in understanding the configuration of vitreomacular adhesion, followup, and eventually planning the surgical approach for operating on VTS.

Optical coherence tomography angiography in myopic choroidal neovascularization after intravitreal ranibizumab

2018 ◽  
Vol 29 (2) ◽  
pp. 239-243
Author(s):  
Gilda Cennamo ◽  
Francesca Amoroso ◽  
Stefano Schiemer ◽  
Nunzio Velotti ◽  
Mariacristina Alfieri ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Visual Acuity ◽  
Choroidal Neovascularization ◽  
Optical Coherence Tomography Angiography ◽  
Pathologic Myopia ◽  
Optical Coherence ◽  
Intravitreal Ranibizumab ◽  
Corrected Visual Acuity ◽  
Best Corrected Visual Acuity

Purpose: To describe the optical coherence tomography angiography characteristics of myopic patients with choroidal neovascularization secondary to pathologic myopia during ranibizumab therapy. Methods: Nineteen patients were enrolled in this prospective study (13 females, 6 males, mean age 55.25 ± 9.63 years) for a total of 20 eyes examined (14 right eyes, 6 left eyes). Images were analyzed independently by two examiners. Results: Mean follow-up was 5.75 ± 1.88 months, with a mean intravitreal injections of 1.90 ± 0.44. Mean best-corrected visual acuity at baseline was 0.39 ± 0.18 logMAR versus 0.26 ± 0.16 logMAR 6 months after treatment. The neovascular area (Z = –2.091, p = 0.037) was significantly reduced after treatment, whereas vessel density was not (Z = –1.848, p = 0.065). Moreover, the best-corrected visual acuity was increased (Z = –3.055, p = 0.002). Neovascular area was significantly correlated with best-corrected visual acuity, at both baseline and follow-up (p < 0.05). Conclusion: Our data suggest that optical coherence tomography angiography is a reproducible non-invasive examination with which to monitor changes in the neovascular area in patients with pathologic myopia treated with ranibizumab.

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