Optic-Nerve Cupping in Congenital Glaucoma

1966 ◽  
Vol 62 (3) ◽  
pp. 507-509 ◽  
Author(s):  
Kenneth T. Richardson ◽  
Robert N. Shaffer
Keyword(s):  
Optic Nerve ◽  
Congenital Glaucoma

scholarly journals The loss of microglia activities facilitates glaucoma progression in association with CYP1B1 gene mutation (p.Gly61Glu)

PLoS ONE ◽  
2020 ◽  
Vol 15 (11) ◽  
pp. e0241902
Author(s):  
Amani Alghamdi ◽  
Wadha Aldossary ◽  
Sarah Albahkali ◽  
Batoul Alotaibi ◽  
Bahauddeen M. Alrfaei
Keyword(s):  
Stem Cells ◽  
Optic Nerve ◽  
Ganglion Cells ◽  
Nicotinamide Adenine Dinucleotide Phosphate ◽  
Annexin V ◽  
Congenital Glaucoma ◽  
Retinal Ganglion ◽  
Primary Congenital Glaucoma ◽  
Metabolic Activities

Background Glaucoma represents the second main cause of irreversible loss of eyesight worldwide. Progression of the disease is due to changes around the optic nerve, eye structure and optic nerve environment. Focusing on primary congenital glaucoma, which is not completely understood, we report an evaluation of an untested mutation (c.182G>A, p.Gly61Glu) within the CYP1B1 gene in the context of microglia, astrocytes and mesenchymal stem cells. We investigated the behaviours of these cells, which are needed to maintain eye homeostasis, in response to the CYP1B1 mutation. Methods and results CRISPR technology was used to edit normal CYP1B1 genes within normal astrocytes, microglia and stem cells in vitro. Increased metabolic activities were found in microglia and astrocytes 24 hours after CYP1B1 manipulation. However, these activities dropped by 40% after 72 hrs. In addition, the nicotinamide adenine dinucleotide phosphate (NADP)/NADPH reducing equivalent process decreased by 50% on average after 72 hrs of manipulation. The cytokines measured in mutated microglia showed progressive activation leading to apoptosis, which was confirmed with annexin-V. The cytokines evaluated in mutant astrocytes were abnormal in comparison to those in the control. Conclusions The results suggest a progressive inflammation that was induced by mutations (p.Gly61Glu) on CYP1B1. Furthermore, the mutations enhanced the microglia’s loss of activity. We are the first to show the direct impact of the mutation on microglia. This progressive inflammation might be responsible for primary congenital glaucoma complications, which could be avoided via an anti-inflammatory regimen. This finding also reveals that progressive inflammation affects recovery failure after surgeries to relieve glaucoma. Moreover, microglia are important for the survival of ganglion cells, along with the clearing of pathogens and inflammation. The reduction of their activities may jeopardise homeostasis within the optic nerve environment and complicate the protection of optic nerve components (such as retinal ganglion and glial cells).

Unilateral congenital glaucoma in a child with optic nerve aplasia

2011 ◽  
Vol 15 (2) ◽  
pp. 200-202
Author(s):  
Michael S. Floyd ◽  
Young H. Kwon ◽  
Shaival Shah ◽  
Christy Benson ◽  
Susannah Q. Longmuir
Keyword(s):  
Optic Nerve ◽  
Congenital Glaucoma

Syndromic Multisuture Craniosynostosis With Associated Anterior Segment Dysgenesis, Optic Nerve Hypoplasia, and Congenital Glaucoma

2018 ◽  
Vol 56 (6) ◽  
pp. 823-826
Author(s):  
Kelly P. Schultz ◽  
Claire J. Wiggins ◽  
Haley Streff ◽  
Veeral S. Shah ◽  
Edward P. Buchanan
Keyword(s):  
Optic Nerve ◽  
Anterior Segment ◽  
Optic Nerve Hypoplasia ◽  
Congenital Glaucoma ◽  
Anterior Segment Dysgenesis

scholarly journals Detection and characterisation of optic nerve and retinal changes in primary congenital glaucoma using hand-held optical coherence tomography

2019 ◽  
Vol 4 (1) ◽  
pp. e000194
Author(s):  
Anastasia V Pilat ◽  
Sonal Shah ◽  
Viral Sheth ◽  
Ravi Purohit ◽  
Frank A Proudlock ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Optic Nerve ◽  
Young Children ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
High Sensitivity ◽  
Congenital Glaucoma ◽  
Optical Coherence ◽  
External Limiting Membrane ◽  
Primary Congenital Glaucoma

ObjectiveTo investigate (1) the feasibility of scanning the optic nerve (ON) and central retina with hand-held optical coherence tomography (HH-OCT) without sedation or anaesthesia in primary congenital glaucoma (PCG), (2) the characteristics of ON changes in comparison with adult primary open-angle glaucoma (POAG) in comparison with matched controls, (3) the sensitivity and specificity of ON parameters for diagnosis, and (4) changes of foveal morphology.Methods and analysisHH-OCT (Envisu 2300; Leica Microsystems) was used to investigate ON and foveal morphology of 20 children with PCG (mean age 4.64±2.79) and 10 adult patients with POAG (mean age 66.8±6.94), and compared with age-matched, gender-matched and ethnicity-matched healthy controls without sedation or anaesthesia.ResultsHH-OCT yielded useful data in 20 out of 24 young children with PCG. Patients with PCG had significantly deeper cup changes than patients with POAG (vs respective age-matched controls, p=0.014). ON changes in PCG are characterised by significant increase in cup depth (165%), increased cup diameter (159%) and reduction in rim area (36.4%) as compared with controls with high sensitivity (81.5, 74.1% and 88.9%, respectively) and specificity (85.0, 80.0% and 75.0%, respectively). Patients with PCG have a significantly smaller width of the macula pit (p<0.001) with non-detectable external limiting membrane.ConclusionHH-OCT has the potential to be a useful tool in glaucoma management for young children. We have demonstrated the use of HH-OCT in confirming a diagnosis of glaucoma within the studied cohort and found changes in disc morphology which characterise differently in PCG from POAG.

scholarly journals Pseudoretinoblastoma: Distribution Based on Gender, Age, and Laterality

2021 ◽  
Author(s):  
Ibadulla Mirzayev ◽  
Ahmet Kaan Gündüz ◽  
Funda Seher Özalp Ateş ◽  
Diğdem Tetik
Keyword(s):  
Optic Nerve ◽  
Patient Group ◽  
Congenital Glaucoma ◽  
Persistent Fetal Vasculature ◽  
Common Diagnosis ◽  
Optic Nerve Head Drusen ◽  
Patient Groups ◽  
Coats Disease ◽  
Clinical Records ◽  
Retinal Dysplasia

Abstract Purpose: To investigate the distribution of pseudoretinoblastoma (PSRB) cases based on gender, age, and lateralityMethods: The clinical records of 607 patients (851 eyes) who were referred for suspicion of retinoblastoma between October 1998 and May 2021 were retrospectively evaluated. Patients were stratified by age as follows: ≤1 year, >1-3 years, >3-5 years, and >5 years.Results: PSRB conditions were detected in 190/607 (31.3%) patients. Of 190 patients, 129 (67.9%) were males and 61 (32.1%) were females (p=0.001). The 3 most common diagnoses were persistent fetal vasculature (PFV; 16.3%), Coats disease (15.3%), and optic nerve head drusen (ONHD; 5.3%). In males, the 3 most common diagnoses were Coats disease (20.2%), PFV (14.0%), and chorioretinal coloboma (6.2%). The 3 most common diagnoses in females included PFV (21.3%), retinal dysplasia, congenital glaucoma, and combined hamartoma (each accounting for 6.6%). PFV was the most common diagnosis in ≤1 year old patient group (26.6%). Coats disease and PFV were the most common diagnoses in >1-3 years old patient group (16.7%, for each diagnosis). Coats disease was the most common diagnosis in >3-5 years old (30.8%) and >5 years old patient groups (13.1%). PSRBs were unilateral in 121/190 (63.7%) patients and bilateral in 69/190 (36.3%). The most common unilateral and bilateral diagnoses were Coats disease (24.0%) and PFV (24.6%) respectively.Conclusion: In our study, 31.3% of patients referred for suspicion of retinoblastoma received the diagnosis of PSRB. PSRB spectrum encompasses different diseases, the distribution of which differ depending on gender, age, and laterality.

scholarly journals Lens coloboma secondary to neglected buphthalmos

2021 ◽  
Vol 2 (5) ◽  
Author(s):  
Mousumi Banerjee ◽  
Keyword(s):  
Visual Acuity ◽  
Intraocular Pressure ◽  
Optic Nerve ◽  
Axial Length ◽  
Congenital Glaucoma ◽  
Slit Lamp ◽  
Posterior Subcapsular Cataract ◽  
Slit Lamp Examination ◽  
Corrected Visual Acuity ◽  
Best Corrected Visual Acuity

A 36-year-old male presented with progressive diminution of vision OS for 3 months. He was a known case of bilateral congenital glaucoma who underwent trabeculectomy at 6 months and 5 years of age OD and OS respectively. Best corrected visual acuity was 6/24 OD and 1/60 OS. Slit lamp examination revealed bilateral Haab striae (Figure 1a) with lens subluxation OS evident by the scalloped border of the lens with broken zonules in the superonasal quadrant and lens coloboma in the inferonasal quadrant with the absence of zonules (Figure 1b,c,d). A posterior subcapsular cataract was also noted OS. Advanced glaucomatous optic nerve cupping was noted OU. An intraocular pressure of 10 mm Hg OD and 16 mm Hg OS was noted. Biometry documented an axial length of 26.30 mm OD and 28.75 mm OS with a keratometry of 42.50D/46.50D @20˚/110˚OD and 37.75D/40.00D @ 45˚/135˚OS. Ultrasound bio-microscopy depicted increased sphericity of the lens with broken zonules OS (Figure 1e).

scholarly journals Zika Virus Infects Trabecular Meshwork and Causes Trabeculitis and Glaucomatous Pathology in Mouse Eyes

mSphere ◽  
2019 ◽  
Vol 4 (3) ◽  
Author(s):  
Pawan Kumar Singh ◽  
Ramesh B. Kasetti ◽  
Gulab S. Zode ◽  
Anju Goyal ◽  
Mark S. Juzych ◽  
...  
Keyword(s):  
Optic Nerve ◽  
Trabecular Meshwork ◽  
Zika Virus ◽  
Inflammatory Responses ◽  
Anterior Segment ◽  
Health Concern ◽  
Congenital Glaucoma ◽  
Zikv Infection ◽  
Chorioretinal Atrophy ◽  
Anterograde Axonal Transport

ABSTRACT Zika virus (ZIKV) infection during pregnancy leads to devastating fetal outcomes, including neurological (microcephaly) and ocular pathologies such as retinal lesions, optic nerve abnormalities, chorioretinal atrophy, and congenital glaucoma. Only clinical case reports have linked ZIKV infection to causing glaucoma, a major blinding eye disease. In the present study, we have investigated the role of ZIKV in glaucoma pathophysiology using in vitro and in vivo experimental models. We showed that human primary trabecular meshwork (Pr. TM) cells, as well as a human GTM3 cell line, were permissive to ZIKV infection. ZIKV induced the transcription of various genes expressing pattern recognition receptors (TLR2, TLR3, and RIG-I), cytokines/chemokines (TNF-α, IL-1β, CCL5, and CXCL10), interferons (IFN-α2, IFN-β1, and IFN-γ), and interferon-stimulated genes (ISG15 and OAS2) in Pr. TM cells. ZIKV infection in IFNAR1−/− and wild-type (WT) mouse eyes resulted in increased intraocular pressure (IOP) and the development of chorioretinal atrophy. Anterior chamber (AC) inoculation of ZIKV caused infectivity in iridocorneal angle and TM, leading to the death of TM cells in the mouse eyes. Moreover, anterior segment tissue of infected eyes exhibited increased expression of inflammatory mediators and interferons. Furthermore, ZIKV infection in IFNAR1−/− mice resulted in retinal ganglion cell (RGC) death and loss, coinciding with optic nerve infectivity and disruption of anterograde axonal transport. Because of similarity in glaucomatous pathologies in our study and other experimental glaucoma models, ZIKV infection can be used to study infectious triggers of glaucoma, currently an understudied area of investigation. IMPORTANCE Ocular complications due to ZIKV infection remains a major public health concern because of their ability to cause visual impairment or blindness. Most of the previous studies have shown ZIKV-induced ocular pathology in the posterior segment (i.e., retina) of the eye. However, some recent clinical reports from affected countries highlighted the importance of ZIKV in affecting the anterior segment of the eye and causing congenital glaucoma. Because glaucoma is the second leading cause of blindness worldwide, it is imperative to study ZIKV infection in causing glaucoma to identify potential targets for therapeutic intervention. In this study, we discovered that ZIKV permissively infects human TM cells and evokes inflammatory responses causing trabeculitis. Using a mouse model, we demonstrated that ZIKV infection resulted in higher IOP, increased RGC loss, and optic nerve abnormalities, the classical hallmarks of glaucoma. Collectively, our study provides new insights into ocular ZIKV infection resulting in glaucomatous pathology.

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