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 Multimorbidity in Pediatric Dermatology: Clinical Case

2020 ◽  
Vol 19 (6) ◽  
pp. 483-489
Author(s):  
Nikolay N. Murashkin ◽  
Alexander I. Materikin ◽  
Eduard T. Ambarchian ◽  
Roman V. Epishev ◽  
Leonid A. Opryatin ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Autosomal Recessive ◽  
Clinical Case ◽  
Correct Diagnosis ◽  
Molecular Genetic ◽  
Final Diagnosis ◽  
Molecular Genetic Testing ◽  
Pediatric Dermatology ◽  
Dominant Type ◽  
Recessive Type

Background. Nowadays, dermatoses with mixed clinical picture and resistant to classical management become more common. The presence of various genetic disorders typical for most chronic dermatoses may indicate possible combination of several nosologies.Clinical Case Description. The article presents the clinical case of multimorbid condition in 10 years old patient who has nucleotide variants in CARD14 and EXPH5 genes. Mutations in CARD14 gene are typical for patients with type 2 psoriasis and pityriasis rubra pilaris (autosomal dominant type), while mutations in EXPH5 gene are typical for patients with non-specific epidermolysis bullosa (autosomal recessive type). Mutation in the TGM1 gene that is described in patients with congenital ichthyosis (autosomal recessive type), pathogenic mutations in KRT74 gene typical for ectodermal dysplasia, hypotrichosis and uncombable hair syndrome, and mutations in the KRT86 gene typical for monilethrix were also revealed. Medical history taking and histological examination as well as clinical data evaluating are crucial for correct diagnosis. They allow to understand the absence of the such manifestations in relatives and reveal various pathological processes in the epidermis. Molecular genetic testing with new generation sequencing (NGS) helps to finally establish the diagnosis and determine the further tactics for patient management.Conclusion. Multidisciplinary approach and use of high-technology methods of examination and treatment (such as molecular genetic testing and biological therapy) are required for final diagnosis in severe forms of chronic dermatosis resistant to treatment and for decision on correct tactics for the further management of such patients.

scholarly journals Characterization of SSBP1-related optic atrophy and foveopathy

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Isabelle Meunier ◽  
Béatrice Bocquet ◽  
Sabine Defoort-Dhellemmes ◽  
Vasily Smirnov ◽  
Carl Arndt ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Visual Impairment ◽  
Optic Atrophy ◽  
Age Of Onset ◽  
Fundus Autofluorescence ◽  
Cone Dystrophy ◽  
Incomplete Penetrance ◽  
Fiber Layer ◽  
Major Criterion

AbstractDominant optic atrophy (DOA) is genetically heterogeneous and most commonly caused by mutations in OPA1. To distinguish between the classical OPA1-related and the recently identified SSBP1-related DOAs, the retina and fovea of 27 patients carrying the SSBP1 p.Arg38Gln variant were scrutinized using 20° × 20° macular cube and 30° and 55° field fundus autofluorescence photographs. Age of onset, visual acuity, retinal nerve fiber layer and macular thicknesses were recorded. Three SSBP1-patients were asymptomatic, 10 had isolated DOA, and 12 had a combined DOA plus foveopathy. The foveopathy, with a tiny defect of the ellipsoid and interdigitation lines, was similar in all patients, independent of age. There were no significant statistical differences in terms of visual acuity and SD-OCT measurements between patients with isolated DOA (mean visual acuity in decimals: 0.54 ± 0.41) and those with combined foveopathy (0.50 ± 0.23). Two patients over 50 years of age developed a progressive rod-cone dystrophy, leading to severe visual impairment. SSBP1-related DOA shares similarities with OPA1-related DOA with an incomplete penetrance and an early childhood visual impairment. Nevertheless, the presence of a congenital foveopathy with no impact on visual acuity is a major criterion to distinguish SSBP1 cases and orient the appropriate genetic analysis.

scholarly journals WDR36-Associated Neurodegeneration: A Case Report Highlights Possible Mechanisms of Normal Tension Glaucoma

Genes ◽  
2021 ◽  
Vol 12 (10) ◽  
pp. 1624
Author(s):  
Elana Meer ◽  
Tomas S. Aleman ◽  
Ahmara G. Ross
Keyword(s):  
Visual Field ◽  
Vision Loss ◽  
Open Angle Glaucoma ◽  
Field Testing ◽  
Normal Tension Glaucoma ◽  
Visual Field Defects ◽  
Fiber Layer ◽  
Retinal Dysfunction ◽  
Full Field ◽  
History Of

WDR36 is one of a number of genes implicated in the pathogenesis of adult-onset primary open angle glaucoma (POAG). Here we describe in detail the phenotype of a patient with pathogenic variation in WDR36 who presented with a protracted history of central vision loss. On exam visual acuities were at 20/100 level, had a tritan color defect and showed central arcuate visual field defects on visual field testing. Enlarged cup-to-disk ratios with normal intraocular pressures were associated with severe thinning of the ganglion cell layer (GCL) and retinal nerve fiber layer consistent with a clinical diagnosis of normal tension glaucoma. Full-field electroretinograms revealed a severe inner retinal dysfunction with reduced amplitudes and remarkably delayed timings of the b-wave, but preserved photoreceptor (a-wave) function. The pattern described herein recapitulates some of the findings of an animal model of WDR36-associated POAG and suggests a mechanism of disease that involves a retina-wide inner retinal dysfunction and neurodegeneration beyond the GCL. Further detailed structural and functional characterizations of patients with a pathogenic variant in the WDR36 gene are required to confirm these findings.

scholarly journals Distal Arthrogryposis in Newborn: Clinical Case

2020 ◽  
Vol 19 (4) ◽  
pp. 298-303
Author(s):  
Vasily P. Gavrilyuk ◽  
Yana V. Evseeva ◽  
Oleg V. Cherevko ◽  
Dmitry A. Severinov
Keyword(s):  
Motor Activity ◽  
Clinical Case ◽  
Muscle Tone ◽  
Molecular Genetic ◽  
Lower Limbs ◽  
Incomplete Penetrance ◽  
Upper Limbs ◽  
Distal Arthrogryposis ◽  
Dominant Type ◽  
Paternal Line

Background. Arthrogryposis is severe congenital musculoskeletal disease with contractures of two or more joints of the lower and/or upper limbs and usually in combination with muscular hypo- or atrophy.Clinical Case Description. Child F. was hospitalized in the department of newborns and premature babies’ pathology on 6th day of life in critical condition. Spontaneous motor activity was severely decreased. He responds to the examination with little increase in motor activity and weak painful scream. Muscle tone is dystonic: it is diffusely reduced in the proximal parts of the upper and lower limbs, in the distal parts of the upper limbs it is significantly increased, there are flexion contractures of the fingers on both hands (mostly on the left one). Passive fingers contractures reversal is difficult. There were no feet deformities or craniofacial anomalies. Hereditary history is burdened: child’s father (1984 year of birth), great-grandfather and cousin uncle (on the paternal line) have finger deformities on both hands. Father and relatives have not been diagnosed before. The clinical diagnosis was established after consultation of geneticist and orthopedist: «Distal arthrogryposis, type 2A, autosomal dominant type of inheritance with incomplete penetrance». The molecular genetic testing was not performed due to the refusal of the child's parents. Therapeutic gymnastics, stage plaster correction of finger contractures were performed in the department during the child hospitalization (21 days). Positive dynamics was noted: finger extension amplitude has increased.Conclusion. Early conservative treatment of infants with arthrogryposis allows to correct musculoskeletal deformities. Early initiation of treatment is expected to increase the amplitude of both passive and active movements in the hand joints, whereas, it will improve the function of hand grasping and self-care capacities of patients. 

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.

Myotonic dystrophy Rossolimo-Churchman-Steinert-Batten (clinical case)

2020 ◽  
pp. 71-72
Author(s):  
И.А. Синельникова ◽  
И.В. Сопрунова ◽  
О.П. Николаева
Keyword(s):  
Case Report ◽  
Myotonic Dystrophy ◽  
Clinical Case ◽  
Molecular Genetic ◽  
Ctg Repeats ◽  
Molecular Genetic Method ◽  
Genetic Method ◽  
Family Case ◽  
Dmpk Gene

В статье представлено описание семейного случая миотонической дистрофии Россолимо-Штейнерта-Куршмана-Баттена. Диагноз подтвержден в результате ДНК-диагностики: выявлено увеличенное число копий CTG-повтора гена DMPK, ответственного за развитие миотонической дистрофии. A family case report of Rossolimo-Steinert-Curschmann myotonic dystrophy is presented. An increased number of copies of CTG-repeats of the DMPK gene responsible for the development of MD, i.e., the diagnosis was confirmed by molecular genetic method.

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 Inner and outer retinal layer thickness alterations in pediatric and juvenile craniopharyngioma

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Ga-In Lee ◽  
Kyung-Ah Park ◽  
Sei Yeul Oh ◽  
Doo-Sik Kong ◽  
Sang Duk Hong
Keyword(s):  
Layer Thickness ◽  
Outer Nuclear Layer ◽  
Plexiform Layer ◽  
Visual Field Defects ◽  
Retinal Layer ◽  
Inner Plexiform Layer ◽  
Healthy Controls ◽  
Fiber Layer ◽  
Photoreceptor Layer ◽  
Chiasmal Compression

AbstractWe evaluated postoperative retinal thickness in pediatric and juvenile craniopharyngioma (CP) patients with chiasmal compression using optical coherence tomography (OCT) auto-segmentation. We included 18 eyes of 18 pediatric or juvenile patients with CP and 20 healthy controls. Each thickness of the macular retinal nerve fiber layer (RNFL), ganglion cell layer (GCL), inner plexiform layer (IPL), inner nuclear layer, outer plexiform layer, outer nuclear layer, and photoreceptor layer was compared between the CP patients and healthy controls. There was significant thinning in the macular RNFL (estimates [μm], superior, − 10.68; inferior, − 7.24; nasal, − 14.22), all quadrants of GCL (superior, − 16.53; inferior, − 14.37; nasal, − 24.34; temporal, − 9.91) and IPL (superior, − 11.45; inferior, − 9.76; nasal, − 15.25; temporal, − 4.97) in pediatric and juvenile CP patients postoperatively compared to healthy control eyes after adjusting for age and refractive errors. Thickness reduction in the average and nasal quadrant of RNFL, GCL, and IPL was associated with peripapillary RNFL thickness, and reduced nasal quadrant GCL and IPL thicknesses were associated with postoperative visual field defects. In pediatric and juvenile patients with CP, decreased inner retinal layer thickness following chiasmal compression was observed. The changes in retinal structures were closely related to peripapillary RNFL thinning and functional outcomes.

Possibilities of modern visualisation of helminthic chorioretinitis

Reflection ◽  
2021 ◽  
Vol 11 (1) ◽  
pp. 12-17
Author(s):  
E.V. Arkhipov ◽  
◽  
S.I. Zhukova ◽  
N.V. Zaitseva ◽  
◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Visual Acuity ◽  
Clinical Case ◽  
Clinical Laboratory ◽  
Three Dimensional ◽  
Comprehensive Analysis ◽  
Oct Angiography ◽  
Standard Analysis ◽  
Complex Reconstruction ◽  
Paracentral Scotoma

Purpose. To present a rare clinical case of helminthic chorioretinitis in a child and to demonstrate the informative value of a comprehensive analysis of optical coherence tomography (OCT) in identifying the etiological nature of the disease. Methods. The results of clinical, laboratory and instrumental examination of a patient with chorioretinitis caused by ascaris. Results. After etiotropic therapy, the patient had an increase of visual acuity from 0.8 to 1.0 and a two-fold decrease of paracentral scotoma. Conclusion. The presented case shows high informative value of combination of standard analysis of retinal maps and sagittal scans with the complex reconstruction of three-dimensional image and analysis of frontal scans obtained in OCT-angiography (OCTA) mode. Key words: chorioretinitis; helminthiasis; OCT-angiography.

Arteriovenous malformations in the optic apparatus: systematic literature review and report of four cases

2021 ◽  
pp. 1-11
Author(s):  
Visish M. Srinivasan ◽  
Phiroz E. Tarapore ◽  
Stefan W. Koester ◽  
Joshua S. Catapano ◽  
Caleb Rutledge ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Visual Field ◽  
Visual Function ◽  
Arteriovenous Malformations ◽  
Vascular Malformations ◽  
Visual Fields ◽  
Optic Tract ◽  
Visual Disturbance ◽  
Visual Field Defects ◽  
Subtotal Resection

OBJECTIVE Rare arteriovenous malformations (AVMs) of the optic apparatus account for < 1% of all AVMs. The authors conducted a systematic review of the literature for cases of optic apparatus AVMs and present 4 cases from their institution. The literature is summarized to describe preoperative characteristics, surgical technique, and treatment outcomes for these lesions. METHODS A comprehensive search of the English-language literature was performed in accordance with established Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines to identify all published cases of AVM in the optic apparatus in the PubMed, Web of Science, and Cochrane databases. The authors also searched their prospective institutional database of vascular malformations for such cases. Data regarding the clinical and radiological presentation, visual acuity, visual fields, extent of resection, and postoperative outcomes were gathered. RESULTS Nine patients in the literature and 4 patients in the authors’ single-surgeon series who fit the inclusion criteria were identified. The median age at presentation was 29 years (range 8–39 years). Among these patients, 11 presented with visual disturbance, 9 with headache, and 1 with multiple prior subarachnoid hemorrhages; the AVM in 1 case was found incidentally. Four patients described prior symptoms of headache or visual disturbance consistent with sentinel events. Visual acuity was decreased from baseline in 10 patients, and 11 patients had visual field defects on formal visual field testing. The most common visual field defect was temporal hemianopia, found in one or both eyes in 7 patients. The optic chiasm was affected in 10 patients, the hypothalamus in 2 patients, the optic nerve (unilaterally) in 8 patients, and the optic tract in 2 patients. Six patients underwent gross-total resection; 6 patients underwent subtotal resection; and 1 patient underwent craniotomy, but no resection was attempted. Postoperatively, 9 of the patients had improved visual function, 1 had no change, and 3 had worse visual acuity. Eight patients demonstrated improved visual fields, 1 had no change, and 4 had narrowed fields. CONCLUSIONS AVMs of the optic apparatus are rare lesions. Although they reside in a highly eloquent region, surgical outcomes are generally good; the majority of patients will see improvement in their visual function postoperatively. Microsurgical technique is critical to the successful removal of these lesions, and preservation of function sometimes requires subtotal resection of the lesion.

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