Diagnosis of keratoconus in a young male after the hint of electrophysiological test: A Case Report and Review of the Literature

2019 ◽  
Author(s):  
weiming Yan ◽  
Yupeng Wang ◽  
Yanjing Chen ◽  
Meizhu Chen
Keyword(s):  
Visual Acuity ◽  
Young Male ◽  
Corneal Topography ◽  
Fiber Layer ◽  
Fluorescein Angiogram ◽  
Case Presentation ◽  
Full Field ◽  
Lesion Location ◽  
Electrophysiological Tests ◽  
Electrophysiological Studies

Abstract Background: Keratoconus (KCN) is a bilateral and usually asymmetrical disease in which the ectatic cornea becomes conical. Diagnosis of unimproved visual acuity (VA) as KCN might sometimes be missed out due to lack of consideration. However, combination of the electrophysiology test and other common ophthalmological examinations could help to locate the lesion for the unimproved VA and realize the possibility of the existence of KCN, which could be diagnosed via corneal topography. The purpose of this report is to describe the diagnosis process of a case of KCN after the hint of lesion location by electrophysiological tests. Case presentation: A 23-year-old young male presented to our ophthalmology clinic complaining of decreased visual acuity in the left eye for 5 months. Clinical evaluation showed best corrected visual acuity of 1.0 OD, and 0.06 OS. The dilated fundus examination revealed no specific abnormality. Spectral-domain optical coherence tomography (SD-OCT) of macular revealed no obvious change on macular and the thickness of peripapillary nerve fiber layer on both eyes. No leakage of fluorecein was found under Fluorescein angiogram (FFA) of both eyes. Indocyanine green angiography (ICGA) did not showed abnormality. The full-field electroretinogram (ffERG) revealed no obvious changes of amplitudes in all responses. Pattern visual evoked potentials (PVEP) detected a reduced amplitude and delayed phase in P100-wave in both eyes. The amplitude and latency of P2-wave in Flash VEP (FVEP) were comparable in both eyes and were within normative ranges. Corneal topography was finally performed and KCN was diagnosed with the presence of asymmetrical bowtie pattern in both eyes, which was worse in the OS. Conclusions: The hint of lesion location by electrophysiological studies (ffERG, PVEP and FVEP) could be of favor to diagnose the conditions with unimproved VA, such as KCN. Consideration of KCN should be suspected in patients with unimproved VA and significant irregular stigmatism, while no obvious lesion exists in other parts of the eye.

scholarly journals Аutosomal Dominant Oculodental-Digital Dysplasia with Mutation in Gene GJA1 (Clinical Case)

2021 ◽  
Vol 18 (1) ◽  
pp. 157-164
Author(s):  
I. V. Zolnikova ◽  
V. V. Kadyshev ◽  
A. V. Marakhonov ◽  
S. I. Kutsev ◽  
R. A. Zinchenko
Keyword(s):  
Visual Acuity ◽  
Clinical Case ◽  
Molecular Genetic ◽  
Optic Disk ◽  
Visual Field Defects ◽  
Cone Dystrophy ◽  
Fiber Layer ◽  
Dominant Type ◽  
Full Field ◽  
Sense Of Smell

The purpose: to describe clinical cases of oculodental-digital dysplasia (ODDD, OMIM #164200) with mutation in GJA1 (OMIM 121014) with molecular genetic verification of the diagnosis.Methods. The article describes the clinical case of oculodental-digital dysplasia in a 51 years old patient. Patient underwent full ophthalmic examination including autorefractometry, visual acuity testing with full correction, tonometry, biomicroscopy, fundus examination and photo as well as kinetic perimetry, autofluorescence and optical coherence tomography (OCT) of macula and optic disk were performed. Electrophysiological examination included Visual Evoked Potentials (VEP) to flash and pattern stimulation, ISCEV standard electroretinograms (ERG) and macular ERG. For the verification of the diagnosis and pathologic gene molecular genetic examination was performed with family anamnesis previously attained.Results. The patient was complaining the deterioration of vision, hearing loss and the sense of smell. Visual deterioration was associated with nyctalopia. Natural history revealed glaucoma 2а which was diagnosed when he was 48 years old. Best corrected visual acuity was 1,0. Peripheral visual field defects were revealed bilaterally. High visual acuity correlated with normal foveal structure on OCTs the retinal nerve fiber layer (RNFL) was thinner than normal in temporal half; deep excavation was visualized in both eyes. Normal MERG and bilateral decrease of scotopic, maximal full-field ERG was recorded which correlated with nyctalopia, as well as subnormal photopic responses indicating cone system involvement. The genetics revealed characteristic features of the face: a small nose with hypoplasia of the wings of the nose, unfolded nostrils and a wide bridge of the nose (pseudohypertelorism). On right-wing the ear sink was detected 2 antitraguses. Changes fingers upper extremities — operated syndactyly IV and V on the background of brachydactyly of the fingers. On the legs on both sides — syndactyly III–IV. 10 years the sense of smell has been dereriorated. In the study of DNA in proband in direct Sanger sequencing of all exons 1–2 and regions of exon-intron compounds of gene GJA1, was found the pathogenic variant in second exon c.412G>A (p.Gly138Ser) in heterozygous state. Was established autosomal dominant type of disease.Conclusion. We are the first to describe rod-cone dystrophy in oculodental-digital dysplasia.

scholarly journals Acute Zonal Occult Outer Retinopathy with Atypical Findings

2014 ◽  
Vol 2014 ◽  
pp. 1-7 ◽  
Author(s):  
Dimitrios Karagiannis ◽  
Georgios A. Kontadakis ◽  
Artemios S. Kandarakis ◽  
Nikolaos Markomichelakis ◽  
Ilias Georgalas ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Visual Field ◽  
Clinical Symptoms ◽  
Clinical Findings ◽  
Case Presentation ◽  
Full Field ◽  
Normal Limits ◽  
Corrected Distance Visual Acuity ◽  
Light Rise ◽  
The Right

Background. To report a case of acute zonal occult outer retinopathy (AZOOR) with atypical electrophysiology findings.Case Presentation. A 23-year-old-female presented with visual acuity deterioration in her right eye accompanied by photopsia bilaterally. Corrected distance visual acuity at presentation was 20/50 in the right eye and 20/20 in the left eye. Fundus examination was unremarkable. Visual field (VF) testing revealed a large scotoma. Pattern and full-field electroretinograms (PERG and ERG) revealed macular involvement associated with generalized retinal dysfunction. Electrooculogram (EOG) light rise and the Arden ratio were within normal limits bilaterally. The patient was diagnosed with AZOOR due to clinical findings, visual field defect, and ERG findings.Conclusion. This is a case of AZOOR with characteristic VF defects and clinical symptoms presenting with atypical EOG findings.

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.

scholarly journals Does ganciclovir exert retinal toxicity after multiple continuous intravitreal injections?

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Feng Hu ◽  
Ya Ma ◽  
Xiaoyan Peng
Keyword(s):  
Visual Acuity ◽  
Capillary Density ◽  
Acute Retinal Necrosis ◽  
Case Presentation ◽  
Visual Damage ◽  
Retinal Capillary ◽  
Single Flash ◽  
Interdigitation Zone ◽  
Anatomical Outcomes ◽  
Flash Response

Abstract Background The objective of this study is to report a case of acute retinal necrosis in which abnormalities in visual function did not correspond to retinal anatomical outcomes. Case presentation A 39-year-old female diagnosed with acute retinal necrosis underwent repeated (nine rounds) intravitreal ganciclovir injection (3 mg/0.1 ml) into the left eye, one injection every 2 weeks. During the therapy, the patient noticed her visual acuity declining gradually. The best corrected visual acuity in the left eye was 20/33. The visual field showed massive visual damage. There was no posterior necrotizing involvement, no macular edema or exudation, and only slight abnormity of the interdigitation zone in the fovea area was visible on OCT. Angio-OCT revealed normal capillary density of three retinal capillary and choriocapillaris layers. The visually evoked potential was normal. The photopic single-flash response showed a declined amplitude of a-wave and b-wave. The amplitudes of photopic 30 Hz flicker were decreased. Multifocal electroretinography revealed macular dysfunction. Conclusion Ganciclovir-associated photoreceptor damage may induce abnormalities in retinal function in response to multiple continuous intravitreal ganciclovir injections at a relatively high dosage (3 mg/0.1 ml).

Charles Bonnet syndrome as first manifestation of occipital infarction

2022 ◽  
pp. 112067212110697
Author(s):  
Marta Isabel Martínez-Sánchez ◽  
Gema Bolívar
Keyword(s):  
Visual Acuity ◽  
Visual Field ◽  
Field Tests ◽  
Visual Field Loss ◽  
Visual Hallucinations ◽  
Correct Treatment ◽  
Cerebral Magnetic Resonance Imaging ◽  
Full Field ◽  
Charles Bonnet Syndrome ◽  
The Right

Purpose To describe a case of Charles Bonnet syndrome as the first manifestation of occipital infarction in a patient with preserved visual acuity. Observations We report a 78-year-old man followed in our department with a two-month-long history of visual hallucinations based on the vision of flowers and fruits intermittently, being perceived as unreal images. Best-corrected visual acuity was stable in the follow-up time being 20/20 in the right eye and 20/25 in the left eye. Extraocular muscle function testing, pupillary reflexes, biomicroscopy, fundus and optical coherence tomography examinations did not reveal any interesting findings. In order to rule out occipital pathology, orbital-cerebral magnetic resonance imaging was performed, showing an image compatible with the chronic ischemic right occipital lesion. The patient was diagnosed with Charles Bonnet syndrome secondary to occipital infarction and neurology decided that no treatment was required. 24-2 and 10-2 visual field tests showed no remarkable alterations and Full-field 120 point screening test showed nonspecific peripheral defects. Hallucinations improved over the months, being described as not annoying and increasingly infrequent. Conclusions and Importance Charles Bonnet syndrome is a condition characterized by the presence of recurrent and complex visual hallucinations in patients with visual pathway pathologic defects. Visual acuity or visual field loss is not a requirement for diagnosis. Charles Bonnet syndrome should be suspected in all patients with non-disturbing visual hallucinations, even though they present good visual acuteness. It will be essential to perform complementary explorations to identify the underlying pathology that allows the starting of a correct treatment option.

scholarly journals Corneal Perforation after Nd:YAG Capsulotomy: A Case Report and Literature Review

2019 ◽  
Vol 10 (1) ◽  
pp. 111-115 ◽  
Author(s):  
Maroun Khreish ◽  
Rana Hanna ◽  
Liron Berkovitz ◽  
Beatrice Tiosano
Keyword(s):  
Visual Acuity ◽  
Acute Onset ◽  
Systemic Scleroderma ◽  
Posterior Capsular Opacification ◽  
Corneal Perforation ◽  
Blurred Vision ◽  
Case Presentation ◽  
Corrected Visual Acuity ◽  
Nd:Yag Laser Capsulotomy ◽  
Corneal Laceration

Background: Nd:YAG capsulotomy is the treatment of choice for posterior capsular opacification after cataract surgery. We report a case of corneal perforation following Nd:YAG capsulotomy in a patient with systemic scleroderma. Case Presentation: A 69-year-old woman presented with acute onset of blurred vision 2 weeks following Nd:YAG laser capsulotomy for posterior subcapsular opacification. On examination, her best-corrected visual acuity was 1/120, and bio-microscopy revealed a central full-thickness corneal laceration. Conservative treatment consisted of topical ocular antibiotics, cycloplegics, hypotensive drops and a soft therapeutic contact lens. Her final visual acuity improved to 6/18 with resolution of the corneal laceration. Conclusion: The possibility of corneal perforation after Nd-YAG capsulotomy in patients with systemic scleroderma and connective tissue disease should be borne in mind when treating such patients.

scholarly journals Conventional Versus Accelerated Collagen Cross-Linking for Keratoconus: A Comparison of Visual, Refractive, Topographic and Biomechanical Outcomes

2017 ◽  
Vol 11 (1) ◽  
pp. 262-272 ◽  
Author(s):  
Jyh Haur Woo ◽  
Jayant Venkatramani Iyer ◽  
Li Lim ◽  
M Htoon Hla ◽  
Jodhbir S Mehta ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Endothelial Cell ◽  
Cell Loss ◽  
Corneal Topography ◽  
Resistance Factor ◽  
Corneal Hysteresis ◽  
Cross Linking ◽  
Corneal Resistance Factor ◽  
Accelerated Crosslinking

Objective: The aim was to compare the visual, refractive, topographic and biomechanical outcomes in patients with progressive keratoconus treated with either conventional or accelerated crosslinking at one year follow up. Methods: It is a prospective, non-randomised interventional study of 76 patients who underwent conventional (CXL; 3mW/cm2 for 30 minutes) or accelerated cross linking (KXL; 30mW/cm2 for 4 minutes) for progressive keratoconus. Baseline and postoperative visual acuity, manifest refraction, corneal topography, pachymetry, endothelial cell density and biomechanical parameters of corneal hysteresis and corneal resistance factor were evaluated and compared. Results: The 2 groups were comparable in terms of uncorrected and best corrected visual acuity and spherical equivalent. Both groups showed no significant increase in K1, K2 and Kmean from baseline at 12 months. There was also no difference between the CXL and KXL group for postoperative corneal topography as well as central and minimal pachymetry up to 12 months. There was a significant increase in both corneal hysteresis (0.62mm Hg, P=0.04) and corneal resistance factor (0.91mm Hg, P=0.003) in the KXL group at 12 months but not in the CXL group. There was no significant endothelial cell loss throughout follow up in both the groups. Conclusion: We have established comparability of the 2 protocols in stabilizing the progression of keratoconus. Our findings also suggested an added biomechanical advantage of accelerated crosslinking at 1 year follow up.

scholarly journals Bilateral retinal pathology following a first-ever clinical episode of autoimmune optic neuritis

2020 ◽  
Vol 7 (2) ◽  
pp. e671 ◽  
Author(s):  
Carla A. Wicki ◽  
Praveena Manogaran ◽  
Tanja Simic ◽  
James V.M. Hanson ◽  
Sven Schippling
Keyword(s):  
Visual Acuity ◽  
Optic Neuritis ◽  
Structural Damage ◽  
Inner Plexiform Layer ◽  
Fiber Layer ◽  
Low Contrast ◽  
Time Points ◽  
Acute Optic Neuritis ◽  
Retinal Pathology ◽  
Clinical Episode

ObjectiveThis longitudinal study aimed to assess changes in retinal structure and visual function following a first-ever episode of acute optic neuritis (ON).MethodsClinical and optical coherence tomography (OCT) data obtained over a period of 12 months were retrospectively analyzed in 41 patients with a first-ever clinical episode of acute ON. OCT scans, high-contrast visual acuity (HCVA), and low-contrast visual acuity (LCVA) were acquired at baseline and at 1, 3, 6, and 12 months thereafter. Macular ganglion cell and inner plexiform layer (GCIP), peripapillary retinal nerve fiber layer (pRNFL), and macular inner nuclear layer (INL) thicknesses were assessed by OCT. Linear mixed-effects models were used to analyze OCT variables of ipsilateral ON and contralateral non-ON (NON) eyes over time.ResultsThe mean change of GCIP thickness in ON eyes was significant at all follow-up time points, with nearly 75% of the total reduction having occurred by month 1. In ON eyes, thinner GCIP thickness at month 1 correlated with lower LCVA at month 3. Mean pRNFL thickness in ON eyes differed significantly from NON eyes at all postbaseline time points. INL thickness was significantly increased in ON eyes (month 1) but also in contralateral NON eyes (month 12).ConclusionsRetinal structural damage develops rapidly following acute ON and is associated with subsequent functional visual deficits. Our results also suggest bilateral retinal pathology following unilateral ON, possibly caused by subclinical involvement of the contralateral NON eyes. Moreover, our data may assist in clinical trial planning in studies targeting tissue damage in acute ON.

scholarly journals Retinal vasculitis in systemic lupus erythematosus: an indication of active disease

2012 ◽  
Vol 2 (2) ◽  
pp. 54 ◽  
Author(s):  
Umi Kalthum Md Noh ◽  
Aida Zairani A. Zahidin ◽  
Then Kong Yong
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Visual Acuity ◽  
Lupus Erythematosus ◽  
Immunosuppressive Agents ◽  
Retinal Vasculitis ◽  
Panretinal Photocoagulation ◽  
Systemic Lupus ◽  
Retinal Hemorrhages ◽  
Fluorescein Angiogram ◽  
Active Disease

A 26-year-old woman with a recent flare-up of systemic lupus erythematosus presented with peripheral retinal hemorrhages at a routine check-up. She is on a tapering dose of immunosuppressive agents. Her visual acuity was good. Fluorescein angiogram revealed vasculitic changes with capillary non-perfusion areas. A few weeks later, she developed cerebral lupus with advanced lupus nephritis. Immunosuppressive therapy was restarted and panretinal photocoagulation was delivered. Her visual acuity remained stable, despite development of a cataract from prednisolone therapy.

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