scholarly journals Optic Disc Pit with Sectorial Retinitis Pigmentosa

2013 ◽  
Vol 2013 ◽  
pp. 1-5
Author(s):  
Melike Balikoglu-Yilmaz ◽  
Muhittin Taskapili ◽  
Tolga Yilmaz ◽  
Mehmet Yasin Teke
Keyword(s):  
Retinitis Pigmentosa ◽  
Optic Disc ◽  
Fundus Autofluorescence ◽  
Multifocal Electroretinogram ◽  
Clinical Findings ◽  
Optic Disc Pit ◽  
Visual Potential ◽  
History Of ◽  
The Right ◽  
Clinical Conditions

Sectorial retinitis pigmentosa (RP) and optic disc pit (ODP) are rare clinical conditions. We present a 40-year-old woman with a history of mild night blindness and decreased vision in the right eye for about 5 years. Fundus examination revealed retinal pigmentary changes in the superior and inferotemporal sectors covering the macula and reduced arterial calibre and ODP at the temporal edge of the optic disc. In addition, fundus autofluorescence, spectral-domain optical coherence tomography, fluorescein angiography, and multifocal electroretinogram scans confirmed these clinical findings. Visual acuity was decreased due to an atrophic-appearing foveal lesion. No intervention was suggested because of the poor visual potential. To the best of our knowledge, the present study is the first to describe coexistent optic disc pit and sectorial RP in the superior and inferotemporal sectors covering the macula in the same eye with figures.

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 Cardiac tamponade secondary to hemorrhagic pericardial effiision in five dogs

2017 ◽  
Vol 56 (1) ◽  
pp. 9
Author(s):  
C. G. HATZIGIANNAKIS (Χ.Γ. ΧΑΤΖΗΓΙΑΝΝΑΚΗΣ) ◽  
M. E. MYLONAKIS (Μ. Ε. ΜΥΛΩΝΑΚΗΣ) ◽  
M. N. SARIDOMICHELAKIS (Μ.Ν. ΣΑΡΙΔΟΜΙΧΕΛΑΚΗΣ) ◽  
M. PATSIKAS (Μ. ΠΑΤΣΙΚΑΣ) ◽  
D. PSALLA (Δ. ΨΑΛΛΑ) ◽  
...  
Keyword(s):  
Ultrasound Examination ◽  
Histopathological Examination ◽  
Clinical Findings ◽  
Pericardial Fluid ◽  
Exercise Intolerance ◽  
Right Atrial ◽  
Atrial Wall ◽  
History Of ◽  
Cardiac Silhouette ◽  
The Right

A 7-year old female collie (case 1), a 3-year old male Caucasian-cross (case 2) and three male German shepherds with an age of 11 (case 3), 8.5 (case 4) and 10 (case 5) years, respectively, were admitted with a history of decreased appetite, depression, exercise intolerance, dyspnea and progressive abdominal enlargement, for the last 10 to 60 days. Poor body condition (5/5), muffled heart sounds (5/5), weak femoral pulse (5/5), ascites (5/5), inspiratory or inspiratory-expiratory dyspnea (5/5), pulsus paradoxus (2/5) and jugular vein distension (2/5) were the prominent clinical findings, while mature neutrophilic leukocytosis (3/5), lymphopenia (3/5), eosinopenia (3/5), hypoproteinemia (5/5) and increased urea nitrogen (3/5) were the most prevalent clinicopathologic abnormalities. Apart from a space-occupying lesion onto the right atrial wall of one dog (case 4), radiographic and ultrasound examination showed a globe-shaped cardiac silhouette (5/5), pericardial effusion (5/5), ascites (5/5) and pleural effusion (4/5). A large amount of non-clotting hemorrhagic effusion was drained during pericardiocentesis, resulting in rapid clinical recovery. Physical, chemical and cytological evaluation of the pericardial fluid was non-contributory in the differentiation between neoplastic and non-neoplastic causes of these effusions. Case 3 died 25 days post-pericardiocentesis; right atrium hemangiosarcoma and pulmonary metastases were documented on post mortem histopathological examination. Another dog (case 5) died of unknown causes one month after pericardiocentensis. On the contrary, dogs 1, 2 and 4 were still clinically healthy for a followup period of 16, 2 and 8 months, respectively.

Fundus autofluorescence features of optic disc pit related maculopathy

2015 ◽  
Vol 23 (1) ◽  
pp. 27 ◽  
Author(s):  
Olufemi Oderinlo ◽  
Adekunle Hassan ◽  
Ogugua Okonkwo
Keyword(s):  
Optic Disc ◽  
Fundus Autofluorescence ◽  
Optic Disc Pit

scholarly journals Paediatric case of peripapillary choroidal neovascularisation associated with optic disc drusen treated with aflibercept

2019 ◽  
Vol 12 (1) ◽  
pp. bcr-2018-228134 ◽  
Author(s):  
Weh Loong Gan ◽  
Vernon W Long
Keyword(s):  
Visual Acuity ◽  
Optic Disc ◽  
Rare Complication ◽  
Fundus Autofluorescence ◽  
Choroidal Neovascularisation ◽  
First Case ◽  
Optic Disc Drusen ◽  
Intravitreal Aflibercept ◽  
The Right ◽  
Subfoveal Fluid

Peripapillary choroidal neovascularisation (PPCNV) associated with optic disc drusen is a rare complication that can result in severe vision impairment in children. We report the first case of paediatric PPCNV secondary to optic disc drusen successfully treated with intravitreal aflibercept. A 6-year-old girl presented with a one week history of reduced vision in her right eye with best-corrected visual acuity of 20/500. Fundus examination revealed bilateral elevated discs with a peripapillary pigmentary lesion in the right eye. Optical coherence tomography of the right eye showed marked subfoveal fluid. Both B-scan ultrasonography and fundus autofluorescence demonstrated findings consistent with optic disc drusen. Diagnosis of PPCNV was further confirmed on fluorescein fundus angiography. The child received three intravitreal aflibercept injections with complete resolution of the subfoveal fluid. Her visual acuity improved to 20/25 with no recurrence at a 16-month follow-up. No adverse side effects were reported.

scholarly journals Malignant Peritoneal Mesothelioma: Clinicopathological Characteristics of Two Cases

2014 ◽  
Vol 2014 ◽  
pp. 1-3 ◽  
Author(s):  
Mustafa Cem Algın ◽  
Faik Yaylak ◽  
Zülfü Bayhan ◽  
Figen Aslan ◽  
Nilüfer Araz Bayhan
Keyword(s):  
Abdominal Pain ◽  
Asbestos Exposure ◽  
Final Diagnosis ◽  
Clinicopathological Characteristics ◽  
Clinical Findings ◽  
Peritoneal Mesothelioma ◽  
Abdominal Masses ◽  
History Of ◽  
The Right ◽  
Specific Symptoms

Introduction. Peritoneal mesothelioma is a rare tumor, presenting difficulties in diagnosis and treatment. Peritoneum is the second most common area of the mesothelioma after pleura, and even synchronous pleural and peritoneal mesotheliomas are observed in 30–45% of all cases. The diagnosis may be difficult due to lack of specific symptoms and clinical findings. In addition, a delay in the diagnosis is not rare especially in the absence of previous asbestos exposure. Here we report two cases of malignant peritoneal mesotheliomas. The diagnostic and therapeutic approaches for these rare neoplasms are discussed.Case Presentation. The cases were two men (one aged 54 years old and the other 40 years old). Prolonged abdominal pain and swelling were the primary presentation symptoms and findings. The mesotheliomas were developed in the right upper quadrant of abdomen in both of the cases. Both cases were treated with surgical resection. Final diagnosis were possible with histological and immunohistochemical documentation of tumor characteristics, which were consistent with dictating a mesothelial origin. No history of asbestos exposure was reported.Conclusion. Peritoneal mesotheliomas are rare clinical entities. However, patients with prolonged abdominal pain and abdominal masses should be considered to have atypical pathologies such as peritoneal mesotheliomas.

scholarly journals Clavicle Pseudarthrosis: A Rare Cause of Thoracic Outlet Syndrome

2010 ◽  
Vol 37 (6) ◽  
pp. 863-865 ◽  
Author(s):  
Kathleen Joy Khu ◽  
Rajiv Midha
Keyword(s):  
Physical Examination ◽  
Shoulder Pain ◽  
Thoracic Outlet Syndrome ◽  
Clinical Findings ◽  
Radial Pulse ◽  
History Of ◽  
Arm Elevation ◽  
One Year ◽  
The Right ◽  
Intrinsic Muscles

A 22-year-old man presented with a one year history of rightsided shoulder pain, hand weakness and tingling, and purplish discoloration of the upper extremity upon abduction. He had congenital pseudarthrosis of the right clavicle since childhood. Aside from an obvious deformity characterized by asymmetry of the shoulders and a palpable bony depression over the right clavicle, the patient had been previously asymptomatic. Physical examination revealed the musculoskeletal deformities as described, as well as prominent veins over his right shoulder, arm, and chest. With arm elevation, his right arm became dusky and his radial pulse diminished. Neurologically, the patient had no deficits except for mild weakness (Grade 4+/5) of the ulnarinnervated intrinsic muscles of the right hand. The clinical findings were consistent with a combined neurogenic and vascular form of thoracic outlet syndrome.

Retinitis Pigmentosa: Clinical Features, Imaging, and Diagnosis

2021 ◽  
pp. 107-112
Keyword(s):  
Retinitis Pigmentosa ◽  
Vision Loss ◽  
Fundus Autofluorescence ◽  
Visual Field Loss ◽  
Clinical Findings ◽  
Autofluorescence Imaging ◽  
Inherited Retinal Dystrophies ◽  
Retinal Dystrophies ◽  
Central Vision Loss ◽  
Progressive Degeneration

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterized by progressive degeneration of rod and cone photoreceptors. The worldwide prevalence of the disease is 1/4000. The earliest symptom in RP is most commonly night blindness, followed by concentric visual field loss. Central vision loss occurs later in life due to cone dysfunction. Photoreceptor responses measured with an electroretinogram are reduced or undetectable. Optical coherence tomography shows a progressive loss of outer retinal layers and fundus autofluorescence imaging reveals alteration autofluorescence in a characteristic pattern. Mutations in more than 80 different genes have been associated with non-syndromic RP. The heterogeneity of RP makes it challenging to describe the clinical findings. The objective of this review is to provide an overview of the clinical characteristics and diagnosis of RP.

scholarly journals Phthisis Bulbi in a Retinitis Pigmentosa Patient after Argus II Implantation

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Logan Vander Woude ◽  
Ramak Roohipour ◽  
Gibran Syed Khurshid
Keyword(s):  
Retinitis Pigmentosa ◽  
Immune Reaction ◽  
Light Perception ◽  
Retinitis Pigmentosa Patient ◽  
Preseptal Cellulitis ◽  
Phthisis Bulbi ◽  
History Of ◽  
Argus Ii ◽  
Surgical Implantation ◽  
The Right

Purpose. To report a previously unreported complication of phthisis after Argus II prosthesis implantation in a retinitis pigmentosa (RP) patient. Case. A 61-year-old male with advanced RP presented to the retina clinic. The patient had a history of vitrectomy in both eyes (OU) in Cuba in 1996. Pre-op visual acuity (VA) was no light perception (NLP) in the right eye and light perception (LP) in the left eye. The patient met the criteria for Argus II implantation and elected to proceed with surgery in his left eye in December 2017. The surgical implantation of the Argus II was successful without any complications. On postoperative day 1, his VA was stable at LP. He was satisfied with his ambulatory vision after the electrodes were turned on. Four months after surgery, the patient was complaining of aching pain; he was found to have preseptal cellulitis and was started on antibiotics. This swelling improved over two weeks, but when the patient returned, he had a two mm hyphema associated with mild ocular inflammation without an inciting event or reason on exam. The hyphema was treated and resolved after two weeks. However, one month after the hyphema resolved, at postoperative month six, the patient’s vision in his left eye became NLP and began to demonstrate phthisical changes, including hypotony, Descemet membrane folds, and a vascular posterior capsular membrane. Discussion. The theoretical causes of phthisis bulbi after Argus II implantation include fibrous downgrowth, ciliary shut down due to immune reaction, inflammation, or trauma. While the cause of phthisis in this Argus patient is not certain and possibly multifactorial, it is important to note that phthisis is a possible complication of an Argus II implant, as this patient had no other obvious insult or reason for the phthisical change.

scholarly journals Mosaic Trisomy 18 in a Five-Month-Old Infant

2013 ◽  
Vol 2013 ◽  
pp. 1-3 ◽  
Author(s):  
Ana Laura Fitas ◽  
Mafalda Paiva ◽  
Ana Isabel Cordeiro ◽  
Luís Nunes ◽  
Gonçalo Cordeiro-Ferreira
Keyword(s):  
Clinical Findings ◽  
Trisomy 18 ◽  
Pulmonary Artery Stenosis ◽  
Feeding Problems ◽  
Ventricular Septal Defects ◽  
Septal Defects ◽  
Irregular Pattern ◽  
History Of ◽  
The Right ◽  
Mosaic Trisomy

Individuals with mosaic trisomy 18, only approximately 5% of all trisomy 18 cases, carry both a trisomy 18 and an euploid cell line. Their clinical findings are highly variable, from the absence of dysmorphic features to the complete trisomy 18 syndrome. A five-month-old daughter of a 38-year-old mother, with vomiting and feeding problems, was referred to our department. She was undernourished and had axial hypotony and developmental delay, an irregular pattern of hypopigmentation on the right side of the abdomen, and moderate sagittal body asymmetry with left-side muscular hemihypotrophy. Mild craniofacial dysmorphy included dolichocephaly, frontal bossing, prominentocciput, long downslanting palpebral fissures, hypertelorism, and retrognathia. A complex heart defect with atrial and ventricular septal defects, pulmonary artery stenosis, and bicuspid aortic valve was identified. Cytogenetic analysis revealed mosaic trisomy 18 with trisomy in 90% of peripheral lymphocytes and 17% of skin fibroblasts. This case adds to our knowledge of the phenotypic spectrum and the natural history of mosaic trisomy 18 by adding a dysmorphic feature and a cardiac abnormality that, to the best of our knowledge, had not been previously described.

scholarly journals Refined Internal Limiting Membrane Inverted Flap Technique for Intractable Macular Detachment with Optic Disc Pit

2017 ◽  
Vol 8 (1) ◽  
pp. 208-213 ◽  
Author(s):  
Rumiko Hara ◽  
Yasutomo Tsukahara ◽  
Tsuyoshi Simoyama ◽  
Soutarou Mori
Keyword(s):  
Optic Disc ◽  
Subretinal Fluid ◽  
Internal Limiting Membrane ◽  
Vitreous Cavity ◽  
Subretinal Space ◽  
Optic Disc Pit ◽  
Case Presentation ◽  
Macular Detachment ◽  
Space Case ◽  
The Right

Purpose: To report a surgical technique for retinal detachment associated with optic disc pit (ODP) by using an internal limiting membrane (ILM) inverted flap as an obstacle between the vitreous cavity and subretinal space. Case Presentation: A 43-year-old man presented with decreased visual acuity in the right eye for 1 week due to macular detachment associated with ODP. After 2 unsuccessful surgeries, the retina was reattached by vitrectomy with an ILM inverted flap onto the ODP. Conclusion: Covering the pit with an inverted ILM flap is a reliable method for intercepting fluid from the vitreous cavity. Immediate absorption of subretinal fluid may lead to early macular attachment. This technique would be effective in managing ODP.

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