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Experimental Eye Research Oct 2011Glaucoma is a family of diseases whose pathology is defined by the progressive loss of retinal ganglion cells. Clinically, glaucoma presents as a distinctive optic... (Review)
Review
Glaucoma is a family of diseases whose pathology is defined by the progressive loss of retinal ganglion cells. Clinically, glaucoma presents as a distinctive optic neuropathy with associated visual field loss. Primary open-angle glaucoma (POAG), chronic angle-closure glaucoma (ACG), and exfoliation glaucoma (XFG) are the most prevalent forms of glaucoma globally and are the most common causes of glaucoma-related blindness worldwide. A host of genetic and environmental factors contribute to glaucoma phenotypes. This review examines the current status of genetic investigations of POAG, ACG, XFG, including the less common forms of glaucoma primary congenital glaucoma (PCG), the developmental glaucomas, and pigment dispersion glaucoma.
Topics: Exfoliation Syndrome; Glaucoma, Angle-Closure; Glaucoma, Open-Angle; Humans; Hydrophthalmos; Molecular Biology
PubMed: 21871452
DOI: 10.1016/j.exer.2011.08.007 -
Ocular Oncology and Pathology Dec 2020A masquerade syndrome is an atypical presentation of a neoplastic process that mimics an inflammatory condition. In this paper, we focus on orbital pseudocellulitis.
INTRODUCTION
A masquerade syndrome is an atypical presentation of a neoplastic process that mimics an inflammatory condition. In this paper, we focus on orbital pseudocellulitis.
CASE SERIES
Our case series includes 5 retinoblastoma patients with orbital pseudocellulitis at presentation. In 3 patients the disease was bilateral, in 1 trilateral, and in 1 unilateral. The eyes with pseudocellulitis were enucleated, while the fellow eyes were treated conservatively, when affected. Four patients responded well to the therapy and showed remission of the tumor. The patient with trilateral retinoblastoma did not respond to therapy and died of disease.
DISCUSSION
Differential diagnosis with infectious orbital cellulitis is extremely important. Patients with orbital cellulitis present with fever, sinusitis, leukocytosis, and raised inflammatory markers, while ophthalmoscopic examination is negative and imaging studies show sinus involvement. On the contrary, patients with retinoblastoma do not show systemic inflammation, while ophthalmoscopic examination reveals leukocoria, buphthalmos, and an intraocular tumor mass associated with retinal detachment. Magnetic resonance imaging shows intralesional calcifications and soft tissue edema without sinus involvement. Histology confirms the diagnosis.
CONCLUSIONS
Medical history, physical examination, and imaging studies are crucial in the diagnosis of retinoblastoma-associated orbital pseudocellulitis. Retinoblastoma should be excluded in all patients with signs of pre-septal orbital cellulitis through fundoscopy and/or imaging studies.
PubMed: 33447593
DOI: 10.1159/000509810 -
Proceedings of the Royal Society of... 1911
PubMed: 19975477
DOI: No ID Found -
Acta Ophthalmologica Feb 2018
Topics: Glaucoma; Humans; Hydrophthalmos; Infant; Intraocular Pressure; Retrospective Studies
PubMed: 29356367
DOI: 10.1111/aos.13589 -
SpringerPlus 2016Keratoglobus closely resembles buphthalmos and anterior megalophthalmos.
BACKGROUND
Keratoglobus closely resembles buphthalmos and anterior megalophthalmos.
FINDINGS
A 45-year-old man presented with gradually progressive, painless, diminution of vision in both eyes since childhood. On examination, visual acuity of right (RE) and left eye (LE) was 20/60 and 2/20 respectively. Clinical pictures of the patient are shown in panel A, B, C, D. Keratometry values were 46.47/47.94 D at 42/132° in RE and 46.90/47.23 D at 174/84° in LE, signifying steep, ectatic cornea. Axial lengths, anterior chamber depth and corneal thickness in RE/LE was 23.53/27.12 mm, 5.18/4.48 mm and 413/420 μm respectively. Iridodonesis was noted in left eye. Retinal evaluation of LE revealed retinal detachment (RD) with posterior staphyloma due to high myopia, hereas RE was within normal limits. Intraocular pressure was normal in both eyes. Final diagnosis was keratoglobus with LE myopic RD. The patient improved to 20/30 in right eye with no improvement in LE with scleral contact lens.
CONCLUSION
Keratoglobus, Megalophthalmos and Buphthalmos are exceedingly close entities and it is very essential to make correct diagnosis, as management options differ significantly for all three diseases.
PubMed: 27330900
DOI: 10.1186/s40064-016-2307-1 -
Ophthalmology. Glaucoma 2022To investigate and report on the quality-of-life (QoL) issues experienced by caregivers of individuals with childhood glaucoma.
PURPOSE
To investigate and report on the quality-of-life (QoL) issues experienced by caregivers of individuals with childhood glaucoma.
DESIGN
Exploratory, qualitative study.
PARTICIPANTS
Thirty-five caregivers of individuals with childhood glaucoma (defined as disease onset before 18 years of age) recruited from the Australian and New Zealand Registry of Advanced Glaucoma.
METHODS
A qualitative research methodology (interpretive phenomenology) was applied. Data were collected through semistructured in-depth interviews. NVivo-12 software (QSR International Pty Ltd) was used to analyze, code, and organize data into QoL themes inductively.
MAIN OUTCOME MEASURES
Quality-of-life themes and their subthemes.
RESULTS
The mean caregiver age was 50.2 ± 13.6 years, and 27 of 35 caregivers (77%) were mothers of an individual with childhood glaucoma. A total of 6 QoL themes were identified. Coping strategies and emotional well-being were the most prominent themes. Caregivers frequently adopted problem-focused adaptive coping strategies including partner or peer support, and normalization. A caregiver's psychosocial well-being was often impacted by feelings of guilt and regret regarding their child's delayed diagnosis, fear and anxiety related to medical and social support, and loss of control as their child developed medical autonomy. The effect of family planning from the perspective of the caregiver formed a novel QoL theme and was associated with normalization and parental confidence in management of the condition.
CONCLUSIONS
Childhood glaucoma poses a substantial threat to a caregiver's psychosocial well-being. Strategies that promote normalization, peer support, psychotherapeutic intervention, and genetic counseling may be indicated and, indeed, critical to the caregiver as they adapt to supporting their child with glaucoma.
Topics: Adult; Australia; Caregivers; Child; Glaucoma; Humans; Hydrophthalmos; Middle Aged; Qualitative Research; Quality of Life
PubMed: 35151897
DOI: 10.1016/j.ogla.2022.02.005 -
BMJ Case Reports Jun 2015
Topics: Corneal Edema; Female; Humans; Hydrophthalmos; Infant, Newborn; Miotics
PubMed: 26040832
DOI: 10.1136/bcr-2015-210979 -
Romanian Journal of Ophthalmology 2020To describe the results of toric intraocular lens (IOL) implantation in three atypical cases (four eyes) with cataract and corneal astigmatism: one with bilateral...
To describe the results of toric intraocular lens (IOL) implantation in three atypical cases (four eyes) with cataract and corneal astigmatism: one with bilateral keratoconus, one with pellucid marginal degeneration and one with buphthalmos due to congenital glaucoma. Three patients (four eyes) with corneal astigmatism (one with bilateral keratoconus, one with pellucid marginal degeneration and one with buphthalmos due to congenital glaucoma) underwent cataract surgery by standard phacoemulsification and the implantation of toric IOLs in the capsular bag. The presence of corneal astigmatism was identified by automated keratometry and confirmed by Scheimpflug-based corneal tomography. The toric IOL implanted in all cases was a single-piece AcrySof Toric IOL (Alcon Laboratories, Inc.). Postoperative visual acuity, the reduction in the refractive astigmatism, the spherical equivalent (SE) and the rotational stability of the toric IOL were recorded for all the patients. Visual acuity increased and the refractive astigmatism decreased in all cases. In Case 1, the right eye achieved a postoperative uncorrected visual acuity (UCVA) of 20/ 20, a decrease in the refractive astigmatism from -3 DCyl to -0.75 DCyl and a spherical equivalent (SE) of -0.25. The left eye presented with a best-corrected visual acuity (BCVA) of 20/ 20, a decrease in the refractive astigmatism from -1.50 DCyl to -1.25 DCyl and a SE of -0.25. In Case 2, the postoperative UCVA was 20/ 20, with a decrease in the refractive astigmatism from -5.5 DCyl to -1 DCyl and a SE for the right eye of 0.00 D. In Case 3, the postoperative BCVA was 20/ 20, with a decrease in the refractive astigmatism from -4.75 DCyl to -1.50 DCyl and a SE of +1.25. No misalignment of the axis of the toric IOL was observed in any patient at subsequent follow-ups. The postoperative visual acuity was satisfactory for all the patients. Toric intraocular lenses can be an effective option for implantation in patients with cataract and corneal astigmatism in atypical situations such as mild to moderate keratoconus, pellucid marginal degeneration and buphthalmos due to congenital glaucoma. Predicting the refractive outcome is difficult in atypical cases and the surgeon should have accuracy and consistency in the preoperative measurements, for achieving satisfactory postoperative results.
Topics: Adult; Corneal Diseases; Female; Humans; Lens Implantation, Intraocular; Lenses, Intraocular; Male; Middle Aged; Prosthesis Design; Refraction, Ocular
PubMed: 33367183
DOI: 10.22336/rjo.2020.67 -
Acta Ophthalmologica Mar 2020To perform an epidemiological survey of all patients in Denmark diagnosed with primary congenital glaucoma (PCG) from 1977 to 2016.
PURPOSE
To perform an epidemiological survey of all patients in Denmark diagnosed with primary congenital glaucoma (PCG) from 1977 to 2016.
METHODS
A retrospective, nationwide study based on a review of medical files of all children with PCG born in Denmark from 1977 to 2016. PCG was defined as glaucoma due to isolated angle dysgenesis affecting children from birth and including late onset/late recognized PCG, excluding glaucoma associated with other congenital abnormalities. Incidence and risk factors of PCG including gender, consanguinity, family history, ethnicity, comorbidity and prematurity were evaluated and stratified by decade (1977-1986, 1987-1996, 1997-2006 and 2007-2016). Age at first symptoms, age at diagnosis, age at time of first surgery and possible diagnostic delay were assessed.
RESULTS
Of 118 patients were identified, annual incidence of PCG was 4.8 per 100 000 live born. 62.3% of cases were bilateral. The relative risk (RR) of PCG was significantly higher in boys (62.7% of patients, RR 1.60 (95% CI 1.10-2.32)). 13.6% had comorbidity. Median age at time of first symptoms was 75 days, median age at time of diagnosis was 150 days and median diagnostic delay was 75 days with no significant difference throughout the decades. Unilateral cases presented symptoms and were diagnosed significantly later than bilateral cases.
CONCLUSION
We provide unique nation-based information on the incidence of PCG from a single country covering 40 years. Male gender was a risk factor. Diagnostic delay was unchanged throughout the 4 decades and a high percentage of comorbidity was revealed. Introducing a standardized paediatric screening of all PCG children should be considered.
Topics: Consanguinity; Delayed Diagnosis; Denmark; Ethnicity; Female; Follow-Up Studies; Humans; Hydrophthalmos; Incidence; Infant; Infant, Newborn; Infant, Premature; Male; Retrospective Studies; Risk Factors
PubMed: 31663689
DOI: 10.1111/aos.14207 -
International Journal of Retina and... May 2021To evaluate the results of pars plana vitrectomy (PPV) and silicone oil (SO) tamponade with or without encircling scleral band for repair of rhegmatogenous retinal...
BACKGROUND
To evaluate the results of pars plana vitrectomy (PPV) and silicone oil (SO) tamponade with or without encircling scleral band for repair of rhegmatogenous retinal detachment (RRD) in children with buphthalmos.
PATIENTS AND METHODS
Retrospective comparative nonrandomized interventional case series including consecutive patients who underwent PPV with or without encircling band and SO tamponade for RRD associated with buphthalmos.
RESULTS
The study included 19 eyes of 19 children. Mean age was 8 years, range 3-16 years. Mean follow-up period was 28 months, range 19-63 months. Globe survival has been achieved in 15 out of 19 eyes (79%). Phthisis bulbi was reported in four cases (22%). Eight patients (42%) achieved ambulatory vision. Most eyes initially achieved anatomical success.
CONCLUSION
Despite the poor visual and anatomical results of RRD repair in eyes with buphthalmos, globe survival might be the rationale for surgery in such cases. Globe preservation could avoid the psychological and social consequences of phthisis bulbi in non-operated children.
PubMed: 33985587
DOI: 10.1186/s40942-021-00310-y