scholarly journals Two Novel Disease-Causing Variants in the PDE6C Gene Underlying Achromatopsia

2021 ◽  
pp. 749-760
Author(s):  
Carolina Madeira ◽  
Gonçalo Godinho ◽  
Ana Grangeia ◽  
Manuel Falcão ◽  
Renato Silva ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Colour Vision ◽  
Clinical Phenotype ◽  
Compound Heterozygous ◽  
Outer Retina ◽  
Heterozygous Genotype ◽  
Flicker Stimulation ◽  
Empty Cavity ◽  
Rod Response ◽  
Sd Oct

We report the clinical phenotype and genetic findings of two variants in PDE6C underlying achromatopsia (ACHM). Four patients with the variant c.1670G&#x3e;A in exon 13 of the PDE6C gene were identified. Additionally, one had compound heterozygous genotype, with two variants in the <i>PDE6C</i> gene, a variant of c.2192G&#x3e;A in exon 18 and c.1670G&#x3e;A in exon 13. All patients presented the symptomatic triad of decreased visual acuity, severe photophobia, and colour vision disturbances. SD-OCT showed an absence of the ellipsoid zone, creating an optically empty cavity at the fovea in three patients. The patient with the compound heterozygous genotype presented a more severe subfoveal outer retina atrophy. ERG recordings showed extinguished responses under photopic and 30-Hz flicker stimulation, with a normal rod response. We identified two new variants in the <i>PDE6C</i> gene that leads to ACHM.

scholarly journals Solar Retinopathy: A Multimodal Analysis

2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
Claudia Bruè ◽  
Cesare Mariotti ◽  
Edoardo De Franco ◽  
Yale Fisher ◽  
Jacopo Maria Guidotti ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Outer Segment ◽  
Fundus Autofluorescence ◽  
Fundus Examination ◽  
Outer Retina ◽  
External Limiting Membrane ◽  
Multimodal Analysis ◽  
Morphological Findings ◽  
Sd Oct

Purpose. Solar retinopathy is a rare clinical disturbance, for which spectral-domain optical coherence tomography (SD-OCT) findings are not always consistent. We report on two cases of solar retinopathy and discuss its differential diagnosis.Methods. This is an observational case study.Results. A 12-year-old female was referred to ophthalmology for bilateral scotoma. Visual acuity was 20/50 in both eyes. Fundus examination was unremarkable, except for slight yellowish material in the central macula, bilaterally. SD-OCT revealed juxtafoveal microcystic cavities in the outer retina, interruption of the external limiting membrane and the inner and outer segment junctions, with disorganized material in the vitelliform space. Fundus autofluorescence showed hypoautofluorescence surrounded by a relatively hyperautofluorescent ring, bilaterally. Similar clinical and morphological findings were detected in a 27-year-old male.Conclusions. Solar retinopathy has a subtle presentation and patients often deny sun-gazing. SD-OCT and fundus autofluorescence are noninvasive and useful tools for its diagnosis.

Severe cystic fibrosis associated with a DeltaF508/R347H+D979A compound heterozygous genotype

1998 ◽  
Vol 53 (1) ◽  
pp. 50-53 ◽  
Author(s):  
Satoko Hojo ◽  
Jiro Fujita ◽  
Hiroshi Miyawaki ◽  
Yuka Obayashi ◽  
Jiro Takahara ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Compound Heterozygous ◽  
Heterozygous Genotype

CORRELATION BETWEEN THICKENING OF THE INNER AND OUTER RETINA AND VISUAL ACUITY IN PATIENTS WITH EPIRETINAL MEMBRANE

Retina ◽  
2010 ◽  
Vol 30 (3) ◽  
pp. 503-508 ◽  
Author(s):  
SHIGETA ARICHIKA ◽  
MASANORI HANGAI ◽  
NAGAHISA YOSHIMURA
Keyword(s):  
Visual Acuity ◽  
Epiretinal Membrane ◽  
Outer Retina

scholarly journals Hyperreflective foci in predicting the treatment outcomes of diabetic macular oedema after anti-vascular endothelial growth factor therapy

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Chu-Hsuan Huang ◽  
Chang-Hao Yang ◽  
Yi-Ting Hsieh ◽  
Chung-May Yang ◽  
Tzyy-Chang Ho ◽  
...  
Keyword(s):  
Vascular Endothelial Growth Factor ◽  
Visual Acuity ◽  
Growth Factor ◽  
Treatment Response ◽  
Macular Oedema ◽  
Diabetic Macular Oedema ◽  
Vascular Endothelial ◽  
Outer Retina ◽  
Hyperreflective Foci ◽  
Endothelial Growth Factor

AbstractThis retrospective study evaluated the association of hyperreflective foci (HRF) with treatment response in diabetic macular oedema (DME) after anti-vascular endothelial growth factor (VEGF) therapy. The medical records, including of ophthalmologic examinations and optical coherence tomography (OCT) images, of 106 patients with DME treated with either intravitreal ranibizumab or aflibercept were reviewed. The correlations between best-corrected visual acuity (BCVA) changes and HRF along with other OCT biomarkers were analysed. The mean logMAR BCVA improved from 0.696 to 0.461 after an average of 6.2 injections in 1 year under real-world conditions. Greater visual-acuity gain was noted in patients with a greater number of HRF in the outer retina at baseline (p = 0.037), along with other factors such as poor baseline vision (p < 0.001), absence of epiretinal membrane (p = 0.048), and presence of subretinal fluid at baseline (p = 0.001). The number of HRF after treatment was correlated with the presence of hard exudate (p < 0.001) and baseline haemoglobin A1C (p = 0.001). Patients with proliferative diabetic retinopathy had greater HRF reduction after treatment (p = 0.018). The number of HRF in the outer retina, in addition to other baseline OCT biomarkers, could be used to predict the treatment response in DME after anti-VEGF treatment.

scholarly journals Inverted Internal Limiting Membrane Flap Technique for Extra Large Macular Holes

2018 ◽  
Vol 1 (1) ◽  
pp. 07-13
Author(s):  
Ogugua Ndubuisi Okonkwo ◽  
Adekunle Olubola Hassan ◽  
Olufemi Oderinlo
Keyword(s):  
Visual Acuity ◽  
Case Series ◽  
Functional Results ◽  
Internal Limiting Membrane ◽  
Vital Role ◽  
Symptom Duration ◽  
Flap Technique ◽  
Macular Holes ◽  
Snellen Visual Acuity ◽  
Sd Oct

Aim: To investigate the outcome of the inverted Internal Limiting Membrane (ILM) flap technique for extra large idiopathic macular holes (MHs).Methods: A retrospective non-comparative surgical case series of seven eyes of 7 patients with MHs (base diameter of at least 1000 ?m) was conducted. All the MHs were treated using pars plana vitrectomy and brilliant blue G (BBG)-assisted inverted ILM flap technique. Spectral Domain- Optical Coherence Tomography (SD-OCT) images were used to assess the anatomical outcomes of surgery including the macular microstructure, while Best Corrected Snellen Visual Acuity (BCSVA) was used to evaluate the functional outcomes.Results: The average MH size was 1241microns and average symptom duration was nineteen months. All eyes achieved successful anatomical closure and there was no occurrence of a flat open type closure. SD-OCT microstructural study revealed a reconstruction of the Ellispod Zone (EZ) and External Limiting Membrane (ELM), in only 3 eyes. There was an improvement in visual acuity in 5 eyes, while 2 eyes maintained the same as pre operative vision. The largest increase in post operative visual acuity gain was a 4-line improvement in Best Corrected Snellen Visual Acuity (BCSVA) noted in one of the 3 eyes with reconstructed EZ and ELM. The 3 months symptom duration in this patient was the shortest in this series.Conclusion: Inverted ILM flap technique is a safe and effective approach for the management of extra large chronic idiopathic MHs with demonstrably good anatomical and limited functional results in a majority of cases. Postoperative reconstruction of the microstructure is however seen only in a minority of eyes. Despite an absence of the outer retina (EZ and ELM), some eyes still experience an improvement in vision. The symptom duration may play a vital role in functional outcome in this subset of extra large chronic MHs.

The SD-OCT Characteristics After 577nm Laser Membranotomy of Sub-inner Limiting Membrane Hemorrhage

2021 ◽  
Author(s):  
Yongpeng Zhang ◽  
Jipeng Li ◽  
Xusheng Cao ◽  
Haiying Zhou ◽  
Liyun Jia ◽  
...  
Keyword(s):  
Laser Treatment ◽  
Macular Hole ◽  
Epiretinal Membrane ◽  
Fundus Photography ◽  
Outer Retina ◽  
Ocular Fundus ◽  
Distinctive Features ◽  
Inner Limiting Membrane ◽  
Series Study ◽  
Sd Oct

Abstract Background We investigate the SD-OCT features of sub-inner limiting membrane (sub-ILM) hemorrhage after 577nm laser membranotomy. Methods The ocular fundus photography and SD-OCT of patients who received 577nm laser membranotomy for sub-ILM hemorrhage were assessed from January 2017 to March 2021 in this retrospective cases series study. Results Total of 7 patients (7 eyes) were enrolled in this study, in which 3 were female and 4 were male. The SD-OCT of ILM after laser treatment showed two distinctive features: the ILM falling back to retina (4 cases) or persistent unsealed ILM which forming premacular cavity (3 cases). The SD-OCT of macular fovea after laser treatment showed three features: normal contour (3 cases), macular hole (1 cases) and epiretinal membrane (1 case). The outer retina showed “peg-like” or “patchy-like” structure on the site of ILM attached to retina.Conclusions 577nm laser is effective in treating of sub-ILM hemorrhage and SD-OCT is effective for diagnosis and following-up of sub-ILM hemorrhage.

scholarly journals Expanding Clinical Phenotype and Novel Insights into the Pathogenesis of ICOS Deficiency

2019 ◽  
Vol 40 (2) ◽  
pp. 277-288 ◽  
Author(s):  
Hassan Abolhassani ◽  
Yasser M. El-Sherbiny ◽  
Gururaj Arumugakani ◽  
Clive Carter ◽  
Stephen Richards ◽  
...  
Keyword(s):  
T Cell ◽  
T Cell Activation ◽  
Cell Activation ◽  
Cytotoxic T Lymphocyte ◽  
Clinical Phenotype ◽  
Compound Heterozygous ◽  
Dominant Phenotype ◽  
Cytokine Responses ◽  
Whole Exome ◽  
Stimulation Of

Abstract Background Inducible T cell co-stimulator (ICOS) deficiency has been categorized as a combined immunodeficiency often complicated by enteropathies, autoimmunity, lymphoproliferation, and malignancy. We report seven new patients and four novel ICOS mutations resulting in a common variable immunodeficiency (CVID)–like phenotype and show that dysregulated IL-12 release, reduced cytotoxic T lymphocyte–associated protein 4 (CTLA4) expression, and skewing towards a Th1-dominant phenotype are all associated with inflammatory complications in this condition. Methods A combination of whole exome and Sanger sequencing was used to identify novel mutations. Standard clinical and immunological evaluation was performed. FACS and ELISA-based assays were used to study cytokine responses and ICOS/ICOSL/CTLA4 expression following stimulation of whole blood and PBMCs with multiple TLR ligands, anti-CD3, and PHA. Results Four novel ICOS mutations included homozygous c.323_332del, homozygous c.451C>G, and compound heterozygous c.58+1G>A/c.356T>C. The predominant clinical phenotype was that of antibody deficiency associated with inflammatory complications in 4/7 patients. Six out of seven patients were treated with immunoglobulin replacement and one patient died from salmonella sepsis. All patients who were tested showed reduced IL-10 and IL-17 cytokine responses, normal IL-1β, IL6, and TNF release following LPS stimulation and highly elevated IL-12 production in response to combined LPS/IFNγ stimulation. This was associated with skewing of CD4+ T cells towards Th1 phenotype and increased expression of ICOSL on monocytes. Lastly, reduced CTLA4 expression was found in 2 patients. One patient treated with ustekinumab for pancytopenia due to granulomatous bone marrow infiltration failed to respond to this targeted therapy. Conclusions ICOS deficiency is associated with defective T cell activation, with simultaneously enhanced stimulation of monocytes. The latter is likely to result from a lack of ICOS/ICOSL interaction which might be necessary to provide negative feedback which limits monocytes activation.

scholarly journals Multimodal imaging of Hurler syndrome-related keratopathy treated with deep anterior lamellar keratoplasty

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Elodie Da Cunha ◽  
Cristina Georgeon ◽  
Nacim Bouheraoua ◽  
Marc Putterman ◽  
Françoise Brignole-Baudouin ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Multimodal Imaging ◽  
Lamellar Keratoplasty ◽  
Deep Anterior Lamellar Keratoplasty ◽  
Imaging Features ◽  
Hurler Syndrome ◽  
Hematopoietic Stem ◽  
First Choice ◽  
Anterior Lamellar Keratoplasty ◽  
Sd Oct

Abstract Background Hurler syndrome-associated keratopathy is an exceedingly rare corneal disorder that requires corneal transplantation in advanced stages. Precise assessment of the corneal condition is necessary for deciding which type of keratoplasty (i.e., deep anterior lamellar or penetrating) should be proposed. We aimed to confront the results of multimodal imaging with those of histology in a case of Hurler syndrome-associated keratopathy. Case presentation A 16-year-old patient with Hurler’s syndrome treated with hematopoietic stem cell transplantation was referred for decreased vision related to advanced keratopathy. The patient was treated with deep anterior lamellar keratoplasty (DALK) in both eyes with uncomplicated outcome. Visual acuity improved from 0.1 (20/200) preoperatively to 0.32 (20/63) and 0.63 (20/32) after transplantation. The corneal endothelial cell density was 2400 cells/mm2 in both eyes 3 years after transplantation. In vivo confocal microscopy (IVCM) and spectral domain optical coherence tomography (SD-OCT) were performed preoperatively. The corneal buttons retrieved during keratoplasty were processed for histology. In SD-OCT scans, corneal opacities appeared as diffuse stromal hyperreflectivity associated with increased corneal thickness. IVCM showed diffuse cytoplasmic granular hyperreflectivity and rounded/ellipsoid aspects of keratocytes, presence of small intracellular vacuoles, and hyperreflective epithelial intercellular spaces. Bowman’s layer was thin and irregular. The corneal endothelium was poorly visualized but no endothelial damage was observed. Histology showed irregular orientation and organization of stromal lamellae, with the presence of macrophages whose cytoplasm appeared clear and granular. A perinuclear clear halo was visible within the epithelial basal cells. Bowman’s layer featured breaks and irregularities. Conclusions The observed corneal multimodal imaging features in mucopolysaccharidosis-related keratopathy were concordant with histology. Compared with standard histology, multimodal imaging allowed additional keratocyte features to be observed. It revealed both morphological and structural changes of all corneal layers but the endothelium. This information is essential for therapeutic management which should include DALK as the first-choice treatment in case of impaired visual acuity.

scholarly journals Association between Hyperreflective Foci on Spectral-Domain Optical Coherence Tomography and Early Recurrence of Diabetic Macular Edema after Intravitreal Dexamethasone Implantation

2019 ◽  
Vol 2019 ◽  
pp. 1-9
Author(s):  
Kyung Tae Kim ◽  
Dong Yoon Kim ◽  
Ju Byung Chae
Keyword(s):  
Macular Edema ◽  
Odds Ratio ◽  
Late Recurrence ◽  
Early Recurrence ◽  
Outer Retina ◽  
Inner Retina ◽  
Hyperreflective Foci ◽  
Intravitreal Dexamethasone ◽  
Recurrence Group ◽  
Sd Oct

Purpose. To investigate the associations between hyperreflective foci (HRF) on spectral-domain optical coherence tomography (SD-OCT) and early recurrence of macular edema after intravitreal dexamethasone (DEX) implantation in eyes with refractory diabetic macular edema (DME) to bevacizumab. Methods. Medical records of patients with refractory DME to bevacizumab, who underwent intravitreal DEX implantation and 12-month follow-up, were reviewed. Eyes in which central subfield thickness (CST) increased over 50 μm at 3 months compared with the first month after intravitreal DEX implantation were categorized into the early recurrence group, and the others were categorized into the late recurrence group. Best-corrected visual acuity (BCVA), CST, and number of HRF on SD-OCT were analyzed. Results. Twenty-nine eyes of 26 patients (16 eyes in the early recurrence group and 13 eyes in the late recurrence group) were included in this study. The numbers of HRF in entire retina, inner retina, and outer retina at baseline in the early recurrence group (11.38 ± 3.07 in entire retina, 5.44 ± 1.50 in inner retina, 5.94 ± 2.74 in outer retina) were significantly greater than those in the late recurrence group (7.54 ± 3.60 in entire retina, p=0.006; 4.08 ± 1.70 in inner retina, p=0.034; 3.46 ± 2.30 in outer retina, p=0.013). Multivariate logistic regression analysis showed that a higher number of HRF increased the risk of early recurrence after intravitreal DEX implantation (odds ratio in entire retina: 1.518, p=0.012; odds ratio in inner retina: 2.058, p=0.027; odds ratio in outer retina: 1.610, p=0.029). Conclusions. Higher baseline numbers of HRF on SD-OCT may be a predictive indicator of early recurrence of macular edema after intravitreal DEX implantation for DME.

scholarly journals Fifteen-minute consultation: Preseptal and orbital cellulitis

2018 ◽  
Vol 104 (2) ◽  
pp. 79-83 ◽  
Author(s):  
Jonathan Adamson ◽  
Thomas Waterfield
Keyword(s):  
Emergency Department ◽  
Visual Acuity ◽  
Eye Movements ◽  
Colour Vision ◽  
Orbital Cellulitis ◽  
Initial Assessment ◽  
Management Options ◽  
Paediatric Emergency Department ◽  
Runny Nose ◽  
History Of

‘It is midnight and you are called to see a thirteen-year-old boy who has been brought to the paediatric emergency department with a 24-hour history of swelling and redness of his left eye. He has had a ‘runny nose’ for a couple of days. He is systemically well. His upper and lower lids are red and swollen such that his eye is not open fully, though you elicit normal eye movements when you open his eye. Pupils are equal and reactive with no afferent pupillary defect. Visual acuity and colour vision are normal on examination.’ In this article, we consider the approach to preseptal and orbital cellulitis in children including the initial assessment and management options.

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