scholarly journals Retinitis Pigmentosa and Bilateral Idiopathic Demyelinating Optic Neuritis in a 6-Year-Old Boy with OFD1 Gene Mutation

2017 ◽  
Vol 2017 ◽  
pp. 1-8 ◽  
Author(s):  
Xun Wang ◽  
Cong Zheng ◽  
Wen Liu ◽  
Hui Yang
Keyword(s):  
Optical Coherence Tomography ◽  
Visual Acuity ◽  
Genetic Testing ◽  
Retinitis Pigmentosa ◽  
Optic Neuritis ◽  
Binocular Vision ◽  
Night Blindness ◽  
History Of ◽  
Sudden Decrease ◽  
Electroretinographic Response

To identify the cause of a sudden binocular vision decrease in patients with retinitis pigmentosa and bilateral idiopathic demyelinating optic neuritis is difficult, but early diagnosis and treatment significantly improve the prognosis. Here, we report a 6-year-old boy with a progressive binocular vision decrease in 38 days. The patient had a history of night blindness, a mottled retina without pigmentation, extinguished electroretinographic response, tritanopia, and an absent ellipsoid zone outside the macula fovea by optical coherence tomography in both eyes. His condition was diagnosed as retinitis pigmentosa (RP) with idiopathic demyelinating optic neuritis (IDON). After corticosteroid therapy, visual acuity recovered to OD: 0.5 and OS: 0.4. Genetic analysis revealed a G985S variant in the oral-facial-digital syndrome 1 gene. Ophthalmologists should pay attention to the existence of other complications in patients with RP who suffer a sudden decrease in vision. A gene survey can help clarify this diagnosis. To our knowledge, this is the first report of a patient with RP and ON, as well as genetic testing results. Nevertheless, the pathogenicity of the variant needs further confirmation.

scholarly journals Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa

2021 ◽  
Vol 22 (5) ◽  
pp. 2374
Author(s):  
Laura Kuehlewein ◽  
Ditta Zobor ◽  
Katarina Stingl ◽  
Melanie Kempf ◽  
Fadi Nasser ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Genetic Testing ◽  
Retinitis Pigmentosa ◽  
Fundus Autofluorescence ◽  
Retinal Disease ◽  
New Drugs ◽  
Autofluorescence Imaging ◽  
Full Field ◽  
Tertiary Referral Center ◽  
The Right

In this retrospective, longitudinal, observational cohort study, we investigated the phenotypic and genotypic features of retinitis pigmentosa associated with variants in the PDE6B gene. Patients underwent clinical examination and genetic testing at a single tertiary referral center, including best-corrected visual acuity (BCVA), kinetic visual field (VF), full-field electroretinography, full-field stimulus threshold, spectral domain optical coherence tomography, and fundus autofluorescence imaging. The genetic testing comprised candidate gene sequencing, inherited retinal disease gene panel sequencing, whole-genome sequencing, and testing for familial variants by Sanger sequencing. Twenty-four patients with mutations in PDE6B from 21 families were included in the study (mean age at the first visit: 32.1 ± 13.5 years). The majority of variants were putative splicing defects (8/23) and missense (7/23) mutations. Seventy-nine percent (38/48) of eyes had no visual acuity impairment at the first visit. Visual acuity impairment was mild in 4% (2/48), moderate in 13% (6/48), and severe in 4% (2/48). BCVA was symmetrical in the right and left eyes. The kinetic VF measurements were highly symmetrical in the right and left eyes, as was the horizontal ellipsoid zone (EZ) width. Regarding the genetic findings, 43% of the PDE6B variants found in our patients were novel. Thus, this study contributed substantially to the PDE6B mutation spectrum. The visual acuity impairment was mild in 83% of eyes, providing a window of opportunity for investigational new drugs. The EZ width was reduced in all patients and was highly symmetric between the eyes, making it a promising outcome measure. We expect these findings to have implications on the design of future PDE6B-related retinitis pigmentosa (RP) clinical trials.

Natural History of Idiopathic Epiretinal Membrane in Eyes with Good Vision Assessed by Spectral-Domain Optical Coherence Tomography

2015 ◽  
Vol 234 (2) ◽  
pp. 91-100 ◽  
Author(s):  
Ik Soo Byon ◽  
Gang Yun Pak ◽  
Han Jo Kwon ◽  
Kyong Ho Kim ◽  
Sung Who Park ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Visual Acuity ◽  
Natural History ◽  
Visual Function ◽  
Epiretinal Membrane ◽  
Membrane Separation ◽  
Early Stage ◽  
Optical Coherence ◽  
Idiopathic Epiretinal Membrane ◽  
History Of

Purpose: To investigate the natural history of idiopathic epiretinal membrane (ERM) in eyes with good visual function using optical coherence tomography (OCT). Methods: Sixty-two eyes of 58 patients with idiopathic ERM, visual acuity of 20/40 or better, and no significant metamorphopsia were included. The best corrected visual acuity (BCVA), central macular thickness (CMT), membrane configuration, and ellipsoid zone signal data over 24 months were retrospectively analyzed. Based on OCT findings, ERM configurations were categorized as global attachment (GA), partial attachment (PA), pseudohole, and vitreomacular traction (VMT). Results: The mean BCVA and CMT did not change significantly between baseline and 24 months. GA, PA, pseudohole, and VMT types were observed in 33, 19, 9, and 1 eye at baseline, and in 20, 22, 10, and 1 eye at 24 months, respectively. A membrane configuration change was noted in 24 eyes (38.7%) during follow-up, and the distribution shifted from GA to the other types (p < 0.001). Six eyes had visual loss due to membrane progression, and 4 eyes had spontaneous membrane separation. Of the 10 eyes with progression or separation, 6 were of the PA type. Conclusions: Although the BCVA remains stable over 2 years in most idiopathic ERM eyes with good visual function at baseline, the membrane configuration may change, affecting visual acuity. The GA type would be an early stage, and the PA type is prone to changes in visual acuity.

scholarly journals Demographic pattern, clinical profile and visual outcome of patients with optic neuritis in a tertiary level eye care center of eastern Nepal

2014 ◽  
Vol 11 (3) ◽  
pp. 250-253
Author(s):  
BG Shrestha ◽  
M Sharma ◽  
P Lavaju ◽  
SM Pokharel ◽  
N Agrawal ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Optic Neuritis ◽  
Care Center ◽  
Visual Outcome ◽  
Clinical Profile ◽  
Response To Treatment ◽  
Female Ratio ◽  
History Of ◽  
Intravenous Steroids ◽  
Time Of Presentation

Introduction: Optic neuritis is one of the common causes of sudden visual impairment. Early diagnosis and treatment with intravenous steroids can hasten visual recovery. Objective: To analyze the demographic pattern, clinical profile, and response to treatment with pulse methylprednisolone in patients presenting with optic neuritis. Methods: A hospital based retrospective analysis of records of patients with optic neuritis presenting at BPKIHS between April 2010 to February 2012 was carried out. Demographic pattern, clinical profile and visual outcome at the time of presentation and discharge were recorded. Results: Thirty-five patients (44 eyes) presented with optic neuritis. A total of 33 eyes (75%) had papillitis and 11 eyes (25%) had retrobulbar optic neuritis. Male to female ratio was 2.18:1. The mean age at presentation was 31.20 ± 17.07 years. Diminution of vision was the commonest mode of presentation. Bilateral involvement was seen in 9 patients (25.71%). The 38 eyes (86.36%) had abnormal pupillary reaction. Eight patients (22.85%) had preceeding history of trauma, 1 (2.85%) had ethmoidal sinusitis and 1 (2.85%) otitis media. At the time of discharge 32 eyes (72.7%) showed recovery in visual acuity after pulse I.V. methylprednisolone therapy. Duration at presentation, visual acuity at presentation and diagnosis did not affect the final visual outcome (p=0.486, p=0.162 and p=0.122 respectively). Conclusion: Majority of patients presented with papillitis of idiopathic origin. Most of the cases were unilateral. Most patients with visual acuity of at least perception of light or better at the time of presentation improved after pulse I.V. methylprednisolone therapy. DOI: http://dx.doi.org/10.3126/hren.v11i3.9641 Health Renaissance 2013;11(3):250-253

Ellipsoid layer restoration after Ozurdex® treatment in a patient with acute posterior multifocal placoid pigment epitheliopathy

2019 ◽  
pp. 112067211988359 ◽  
Author(s):  
Arnau Mora-Cantallops ◽  
M Dolores Pérez ◽  
Marcelino Revenga ◽  
Julio Jose González-López
Keyword(s):  
Optical Coherence Tomography ◽  
Visual Acuity ◽  
Optical Coherence ◽  
Dexamethasone Implant ◽  
Slit Lamp ◽  
Slit Lamp Examination ◽  
Intravitreal Dexamethasone Implant ◽  
History Of ◽  
Intravitreal Dexamethasone ◽  
Consequent Improvement

An atypical case of acute posterior multifocal placoid pigment epitheliopathy with a clear reappearance of the ellipsoid layer of the retina after Ozurdex® intravitreal implantation is presented. A 51-year-old woman reported a 3-week history of left eye photopsia. On slit-lamp examination, yellowish placoid lesions were found on her left eye fundus. Ancillary tests were performed. The patient was diagnosed as a left eye acute posterior multifocal placoid pigment epitheliopathy, and observational approach was decided. Later, the condition started to progress in an ampiginous manner and a decrease of visual acuity caused by an increase in number and size of the lesions was observed. As the disease was progressing with the conservative, observational approach, and the macula was menaced, an intravitreal dexamethasone implant was injected in the left eye with a consequent improvement of the visual acuity and lesion stabilization. The ellipsoid layer, unidentifiable inside the placoid lesions in previous optical coherence tomography tests, reappeared after the treatment. Intravitreal dexamethasone implants can be used to stabilize acute posterior multifocal placoid pigment epitheliopathy lesions and help resolve the condition. Spectral domain optical coherence tomography can also be useful for monitoring these lesions, as the ellipsoid layer may reappear upon resolution.

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 Optic Neuritis in an Adult Patient with Chickenpox

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Ana Rita Azevedo ◽  
Rita Simões ◽  
Filipe Silva ◽  
Susana Pina ◽  
Cristina Santos ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Visual Acuity ◽  
Optic Neuritis ◽  
Primary Infection ◽  
Central Nervous System Involvement ◽  
Immunocompetent Patient ◽  
Immunocompetent Adult ◽  
Varicella Zoster ◽  
Asymptomatic Patients ◽  
History Of

Central nervous system involvement in a patient with primary infection withVaricella zostervirus is rare, especially in the immunocompetent adult. In particular, isolated optic neuritis has been described in a small number of cases. The authors present a case of optic neuritis in an immunocompetent patient. A 28-year-old woman presented to the emergency room with a history of headaches during the previous week, without visual symptoms. The examination was unremarkable, except for a rash suggestive of chickenpox and hyperemic and edematous optic disc, bilaterally. Visual acuity and neurological examination were normal. Two days later, she complained of pain on eye movement and decreased visual acuity, which was 20/32 in her right eye and 20/60 in her left eye. Four days after admission, her visual acuity started to improve, and two months later, she had 20/20 visual acuity in both eyes. To our knowledge, this is the first reported case of an immunocompetent adult in which aVaricella zostervirus associated optic neuritis presented with fundoscopic changes before decreased visual acuity. This suggests that this condition may be underdiagnosed in asymptomatic patients.

scholarly journals Type 3 Neovascularization Associated with Retinitis Pigmentosa

2017 ◽  
Vol 8 (1) ◽  
pp. 245-249 ◽  
Author(s):  
Jihene Sayadi ◽  
Alexandra Miere ◽  
Eric H. Souied ◽  
Salomon Y. Cohen
Keyword(s):  
Optical Coherence Tomography ◽  
Visual Acuity ◽  
Retinitis Pigmentosa ◽  
Macular Edema ◽  
Pigment Epithelium ◽  
High Flow ◽  
Type 3 Neovascularization ◽  
Capillary Plexus ◽  
The Right ◽  
Type 3

Purpose: To report a case of type 3 neovascular lesion in a patient with retinitis pigmentosa (RP) complicated by macular edema. Case Report: A 78-year-old man with a long follow-up for RP was referred for painless visual acuity decrease in the right eye. Best-corrected visual acuity was 20/125 in the right eye and 20/40 in the left. Fundus examination showed typical RP and macular edema in both eyes. In the right eye, spectral domain optical coherence tomography revealed a marked cystic macular edema associated with disruption of the Bruch membrane/retinal pigment epithelium complex overlying a pigmentary epithelium detachment, with a vascular structure which appeared to originate from the deep capillary plexus and to be connected with the subretinal pigment epithelium space. Optical coherence tomography angiography showed a high-flow vessel infiltrating the outer retinal layers in the deep capillary plexus segmentation, and a tuft-shaped, bright, high-flow network that seemed to be connected with the subretinal pigment epithelium space in the outer retinal layer segmentation. This presentation was consistent with an early type 3 neovascular lesion in the right eye. Conclusion: Type 3 neovascularization may be considered a possible complication of RP.

scholarly journals Retinal Oxygen Metabolism and Haemodynamics in Patients With Multiple Sclerosis and History of Optic Neuritis

2021 ◽  
Vol 15 ◽  
Author(s):  
Martin Kallab ◽  
Nikolaus Hommer ◽  
Andreas Schlatter ◽  
Gabriel Bsteh ◽  
Patrick Altmann ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Optical Coherence Tomography ◽  
Optic Neuritis ◽  
Layer Thickness ◽  
Oxygen Metabolism ◽  
Retinal Blood Flow ◽  
Oxygen Extraction ◽  
Inner Plexiform Layer ◽  
Optical Coherence ◽  
History Of

Vascular changes and alterations of oxygen metabolism are suggested to be implicated in multiple sclerosis (MS) pathogenesis and progression. Recently developed in vivo retinal fundus imaging technologies provide now an opportunity to non-invasively assess metabolic changes in the neural retina. This study was performed to assess retinal oxygen metabolism, peripapillary capillary density (CD), large vessel density (LVD), retinal nerve fiber layer thickness (RNFLT) and ganglion cell inner plexiform layer thickness (GCIPLT) in patients with diagnosed relapsing multiple sclerosis (RMS) and history of unilateral optic neuritis (ON). 16 RMS patients and 18 healthy controls (HC) were included in this study. Retinal oxygen extraction was modeled using O2 saturations and Doppler optical coherence tomography (DOCT) derived retinal blood flow (RBF) data. CD and LVD were assessed using optical coherence tomography (OCT) angiography. RNFLT and GCIPLT were measured using structural OCT. Measurements were performed in eyes with (MS+ON) and without (MS-ON) history for ON in RMS patients and in one eye in HC. Total oxygen extraction was lowest in MS+ON (1.8 ± 0.2 μl O2/min), higher in MS-ON (2.1 ± 0.5 μl O2/min, p = 0.019 vs. MS+ON) and highest in HC eyes (2.3 ± 0.6 μl O2/min, p = 0.002 vs. MS, ANOVA p = 0.031). RBF was lower in MS+ON (33.2 ± 6.0 μl/min) compared to MS-ON (38.3 ± 4.6 μl/min, p = 0.005 vs. MS+ON) and HC eyes (37.2 ± 4.7 μl/min, p = 0.014 vs. MS+ON, ANOVA p = 0.010). CD, LVD, RNFLT and GCIPL were significantly lower in MS+ON eyes. The present data suggest that structural alterations in the retina of RMS patients are accompanied by changes in oxygen metabolism, which are more pronounced in MS+ON than in MS-ON eyes. Whether these alterations promote MS onset and progression or occur as consequence of disease warrants further investigation.Clinical Trial Registration:ClinicalTrials.gov registry, NCT03401879.

Sign in / Sign up

Export Citation Format

Share Document