scholarly journals A Rare Case of Juvenile X-Linked Retinoschisis

2021 ◽  
Vol 48 (4) ◽  
pp. 28-32
Author(s):  
E. Mermeklieva ◽  
P. Vasileva
Keyword(s):  
Rare Case ◽  
Clinical Case ◽  
Correct Diagnosis ◽  
Field Testing ◽  
Clinical Findings ◽  
Fundus Photography ◽  
Visual Field Testing ◽  
Full Field ◽  
Pattern Electroretinography ◽  
Retinal Dystrophies

Abstract Aim: To present a rare clinical case of X-linked retinoschisis, confirmed clinically, electrophysiologically and genetically. Material and methods: A 12-year-old boy underwent detailed ophthalmic examination including fundus photography, full-field, multifocal and pattern electroretinography, visual field testing, optical coherence tomography, which established the clinical diagnosis, confirmed also genetically. Results: The clinical findings included a slight loss of vision, central and paracentral scotomas, a characteristic spoke-wheel pattern appearance of the macula in fundoscopy and the pathognomic appearance of splitting of the retinal layers in the macula with foveal schisis with cystic spaces on OCT. Reduced cone and rod ERG responds were detected with the characteristic decreasing of b-ware near the isoelectric line. The genetic analysis found that the patient was hemizygous for the missense mutation c.598G>A (p.Arg200Cys) of RS1 gene, coming from his asymptomatic mother. Conclusion: The comprehensive clinical, electrophysiological and genetic testing of patients with rare hereditary retinal dystrophies is essential for the correct diagnosis and the choice of therapeutic approach.

scholarly journals Subcutaneous Emphysema, Pneumomediastinum, Pneumoretroperitoneum, and Pneumoscrotum: Unusual Complications of Acute Perforated Diverticulitis

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
S. Fosi ◽  
V. Giuricin ◽  
V. Girardi ◽  
E. Di Caprera ◽  
E. Costanzo ◽  
...  
Keyword(s):  
Subcutaneous Emphysema ◽  
Rare Case ◽  
Correct Diagnosis ◽  
Clinical Findings ◽  
Perforated Diverticulitis ◽  
Alveolar Wall ◽  
X Rays ◽  
Radiological Imaging ◽  
Upper Airways ◽  
Surgical Exploration

Pneumomediastinum, and subcutaneous emphysema usually result from spontaneous alveolar wall rupture and, far less commonly, from disruption of the upper airways or gastrointestinal tract. Subcutaneous neck emphysema, pneumomediastinum, and retropneumoperitoneum caused by nontraumatic perforations of the colon have been infrequently reported. The main symptoms of spontaneous subcutaneous emphysema are swelling and crepitus over the involved site; further clinical findings in case of subcutaneous cervical and mediastinal emphysema can be neck and chest pain and dyspnea. Radiological imaging plays an important role to achieve the correct diagnosis and extension of the disease. We present a quite rare case of spontaneous subcutaneous cervical emphysema, pneumomediastinum, and pneumoretroperitoneum due to perforation of an occult sigmoid diverticulum. Abdomen ultrasound, chest X-rays, and computer tomography (CT) were performed to evaluate the free gas extension and to identify potential sources of extravasating gas. Radiological diagnosis was confirmed by the subsequent surgical exploration.

scholarly journals Genetic testing for retinitis punctata albescens/fundus albipunctatus

2017 ◽  
Vol 1 (s1) ◽  
pp. 96-98
Author(s):  
Andi Abeshi ◽  
Pamela Coppola ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Fabiana D’Esposito ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Autosomal Recessive Inheritance ◽  
Field Testing ◽  
Clinical Findings ◽  
Ophthalmological Examination ◽  
Visual Field Testing ◽  
Fundus Albipunctatus ◽  
Retinitis Punctata Albescens

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for retinitis punctata albescens/fundus albipunctatus (RPA/FA). RPA and FA are reported to have autosomal dominant or autosomal recessive inheritance and are associated with variations in the PRPH2, RHO, RLBP1 and RDH5 genes. There is insufficient data to establish their prevalence. Clinical diagnosis is based on clinical findings, ophthalmological examination, optical coherence tomography, visual field testing and undetectable or severely reduced electroretinogram amplitudes. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

scholarly journals Rare case of esophageal foreign body with respiratory manifestations

2015 ◽  
Vol 10 (1) ◽  
pp. 79-81
Author(s):  
Corneliu TOADER ◽  
◽  
Mioriţa TOADER ◽  
Iolanda Cristina VIVISENCO ◽  
◽  
...  
Keyword(s):  
Foreign Body ◽  
Rare Case ◽  
Clinical Case ◽  
Correct Diagnosis ◽  
Proper Treatment ◽  
Esophageal Foreign Body ◽  
Diagnostic Difficulties

The authors present a clinical case of esophageal foreign body with exclusive respiratory symptomatology, which generated significant diagnostic difficulties. Careful and detailed anamnesis, coupled with a broad range of investigations enabled us to establish the correct diagnosis and proper treatment.

scholarly journals CLINICAL CASE OF MULTIPLE STEATOCYSTOMA

2017 ◽  
Vol 20 (3) ◽  
pp. 140-142
Author(s):  
V. A Molochkov ◽  
Albina N. Khlebnikova ◽  
Yu. V Molochkova
Keyword(s):  
Literature Review ◽  
Hair Follicle ◽  
Rare Disease ◽  
Sebaceous Gland ◽  
Clinical Case ◽  
Correct Diagnosis ◽  
Clinical Signs ◽  
Clinical Findings ◽  
Sebaceous Glands ◽  
Long Time

A description of a rare disease multiple steatocystoma is presented. The disease is characterized by the development of cysts of hair follicle walls and sebaceous gland ducts. Clinical signs are multiple yellow-colored nodules located in the areas with high density of sebaceous glands. Description of clinical case of multiple steatocystoma at 31-year-old female patient, that was treated for a long time with an “unknown dermatosis” and literature review are presented. The correct diagnosis was verified based on anamnesis, clinical findings and pathomorphologic study.

scholarly journals Reliability of kinetic visual field testing in children with mutation-proven retinal dystrophies: Implications for therapeutic clinical trials

2017 ◽  
Vol 39 (1) ◽  
pp. 22-28 ◽  
Author(s):  
Vaidehi S. Dedania ◽  
Jerry Y. Liu ◽  
Dana Schlegel ◽  
Chris A. Andrews ◽  
Kari Branham ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Visual Field ◽  
Field Testing ◽  
Visual Field Testing ◽  
Retinal Dystrophies

scholarly journals Peripapillary Retinal Thickness Maps in the Evaluation of Glaucoma Patients: A Novel Concept

2011 ◽  
Vol 2011 ◽  
pp. 1-6 ◽  
Author(s):  
Kayoung Yi ◽  
Mircea Mujat ◽  
Wei Sun ◽  
B. Hyle Park ◽  
Johannes F. de Boer ◽  
...  
Keyword(s):  
Visual Field ◽  
Retinal Thickness ◽  
Field Testing ◽  
Fundus Photography ◽  
Visual Field Defects ◽  
Visual Field Testing ◽  
Fiber Layer ◽  
Rnfl Thickness ◽  
Novel Concept ◽  
Field Defects

Purpose. To show how peripapillary spectral domain optical coherence tomography (SDOCT) retinal thickness (RT) maps can complement retinal nerve fiber layer (RNFL) thickness maps in the evaluation of glaucoma patients. Methods. After a complete eye exam with standard fundus photography and visual field testing, normal and glaucomatous eyes were imaged with an experimental SDOCT system. From SDOCT images, RNFL thickness and RT maps were constructed and then correlated with disc photography and visual field testing. Results. Two normal eyes of 2 patients and 5 eyes of 4 glaucoma patients were imaged. Although both RNFL and RT maps correlated well with visual field defects, glaucomatous arcuate defects were sometimes more easily identified in the RT maps. Conclusions. To our knowledge, this is the first paper to show that peripapillary SDOCT RT maps may provide important supplemental information to RNFL thickness maps in the evaluation of glaucoma patients.

A Rare Case of Tuberculous Prostatitis

2016 ◽  
Vol 1 (2) ◽  
pp. 33
Author(s):  
Nurul Yaqeen Mohd Esa ◽  
Mohammad Hanafiah ◽  
Marymol Koshy ◽  
Hilmi Abdullah ◽  
Ahmad Izuanuddin Ismail ◽  
...  
Keyword(s):  
Rare Case ◽  
Correct Diagnosis ◽  
Immunocompetent Patient ◽  
Clinical Suspicion ◽  
Tuberculosis Infection ◽  
Advanced Age ◽  
Immunocompromised Patients ◽  
Prostatic Biopsy ◽  
High Clinical Suspicion

Tuberculous prostatitis is an uncommon form of tuberculosis infection. It is commonly seen in immunocompromised patients and in those of middle or advanced age. The diagnosis is often not straight forward due to the nature of its presentation. We report a case of tuberculous prostatitis in a young, healthy and immunocompetent patient, who initially presented with respiratory features, followed by episodes of seizures and testicular swelling. He was finally diagnosed with tuberculous prostatitis after prostatic biopsy. This case illustrates that in a high TB prevalence environment, when symptoms warrant, there should be a high clinical suspicion coupled with a thorough approach in order to arrive at a correct diagnosis of TB prostatitis.

Middle ear tuberculosis - clinical case

ORL ro ◽  
2016 ◽  
Vol 2 (1) ◽  
pp. 12-14
Author(s):  
A. Sandul ◽  
M. Buracovschi ◽  
N. Buracovschi
Keyword(s):  
Otitis Media ◽  
Middle Ear ◽  
Human Population ◽  
Clinical Case ◽  
Correct Diagnosis ◽  
Tuberculous Otitis Media ◽  
Type V

Tuberculosis is one of the oldest pathologies that affect human population, being a significant cause of morbidity/mortality in several countries. Middleear tuberculosis is a rare pathology, often misdiagnosed because of an atipic evolution, as a result leading to severe complications. This paper presents a case of tuberculous otitis media complicated with facial nerveparalysis House Brackmann type V in a patient who underwent multiple middleear surgeries before correct diagnosis was established.  

scholarly journals Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN

2021 ◽  
Vol 10 (11) ◽  
pp. 2265
Author(s):  
Kei Mizobuchi ◽  
Takaaki Hayashi ◽  
Noriko Oishi ◽  
Daiki Kubota ◽  
Shuhei Kameya ◽  
...  
Keyword(s):  
Age At Onset ◽  
Japanese Patients ◽  
Clinical Findings ◽  
Cone Dystrophy ◽  
Element Insertion ◽  
Retinal Dystrophies ◽  
Whole Exome ◽  
Novel Variants ◽  
Alu Element ◽  
Frequent Variant

Background: Little is known about genotype–phenotype correlations of RP1-associated retinal dystrophies in the Japanese population. We aimed to investigate the genetic spectrum of RP1 variants and provide a detailed description of the clinical findings in Japanese patients. Methods: In total, 607 patients with inherited retinal diseases were examined using whole-exome/whole-genome sequencing (WES/WGS). PCR-based screening for an Alu element insertion (c.4052_4053ins328/p.Tyr1352AlafsTer9) was performed in 18 patients with autosomal-recessive (AR)-retinitis pigmentosa (RP) or AR-cone dystrophy (COD)/cone-rod dystrophy (CORD), including seven patients with heterozygous RP1 variants identified by WES/WGS analysis, and 11 early onset AR-RP patients, in whom no pathogenic variant was identified. We clinically examined 25 patients (23 families) with pathogenic RP1 variants, including five patients (five families) with autosomal-dominant (AD)-RP, 13 patients (11 families) with AR-RP, and seven patients (seven families) with AR-COD/CORD. Results: We identified 18 pathogenic RP1 variants, including seven novel variants. Interestingly, the Alu element insertion was the most frequent variant (32.0%, 16/50 alleles). The clinical findings revealed that the age at onset and disease progression occurred significantly earlier and faster in AR-RP patients compared to AD-RP or AR-COD/CORD patients. Conclusions: Our results suggest a genotype–phenotype correlation between variant types/locations and phenotypes (AD-RP, AR-RP, and AR-COD/CORD), and the Alu element insertion was the most major variant in Japanese patients with RP1-associated retinal dystrophies.

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