Case Of Congenital Glaucoma Research Articles

Efficacy And Surgical Outcome of Trabeculectomy with Mitomycin-C In Congenital Glaucoma with Hazy Cornea

Glaucoma is characterized by an optic neuropathy associated with raised intraocular pressure (IOP) and visual field defect Objective: To determine the efficacy and outcome of trabeculectomy augmented with anti-metabolite mitomycin-C in children with childhood glaucoma. Methods: A total of 40 eyes of 22 diagnosed cases of congenital glaucoma were studied. All these children underwent mitomycin-C augmented trabeculectomy from July 2017 to August 2020. The primary outcome was control of postoperative intraocular pressure (IOP) at the end of one year. A target pressure of <15mmHg was set as target pressure to label a successful surgical outcome. Results: The mean age of the patients enrolled in the study was 26.8± 12.2 years (range: 8 – 32 months) with a male to female ratio of 7:4. The mean ± SD IOP before trabeculectomy surgery was (31.5± 8.6) (range: 21 – 53) mmHg. At the one-year follow-up, the mean postoperative IOP was (19.4± 7.9) (range: 9 – 48) mmHg. Target IOP < 15 mmHg was successfully achieved in 27 (67.5%), 24 (60.0%) and 22 (55.0%) eyes at postoperative 1, 6 and 12 months respectively. Repeat trabeculectomy was required in 5 (12.5%) eyes, while 5 (12.5%) eyes developed corneal perforations and 3 (7.5%) eyes developed phthisis bulbi. Conclusion: Trabeculectomy with mitomycin C can be a primary surgical intervention in congenital glaucoma. However, repeat surgery may be required and other related surgical complications can occur after this surgery in patients with uncontrolled IOP.

Genetic variants of congenital glaucoma. Analysis of the literature and description of the clinical case

Purpose. Description of a clinical case of a patient with congenital glaucoma and mutations in the CYP1B1 gene, taking into account the analysis of literature data.Material and methods. The following methods were used to examine the patient: standard ophthalmological examination, EPI (VEP for flash, mERG and rERG) and fundus photoregistration, molecular genetics study of the CYP1B1 gene. DNA research was carried out by the method of direct automatic sequencing according to Sanger (the biomaterial was used — venous blood).Results. The article describes a clinical case of congenital glaucoma in a child with an early (from birth) manifestation of glaucoma, a distant stage at the time of examination, at the age of 2 years 6 months. Revealed pronounced clinical, functional and structural changes in the eyes, as well as changes in electrophysiological parameters. The previously described pathogenic variants of the nucleotide sequence 1330C> T (p.Arg444 *) and c.1405C> T (Arg469Trp) in heterozygous states were found in the CYP1B1 gene.Conclusion. The severity of the clinical course of congenital glaucoma in the described clinical case is presumably due to mutations in the CYP1B1 gene. A timely, interdisciplinary approach to diagnosis is key to successful treatment of glaucoma in children.

A case of congenital glaucoma in type I neurofibromatosis

BACKGROUND: Recklinghausens generalized neurofibromatosis (NF) is a hereditary disease characterized by the formation of benign tumors from the nervous tissue that provokes skin and bone changes of various types. Often, involvement in the pathological process and the organ of vision. The variability of eye lesions in NF-I type is known according to the clinical course, severity, and clinical forms. Gliomas and atrophy of the optic nerves, neurofibromas in the iris, sclera, conjunctiva, eyelids, less often glaucoma, buphthalmos, orbital osteodystrophy are described.
 RESULTS: The article describes a rare case of type I neurofibromatosis, the first clinical manifestation of congenital glaucoma. Modern complex ophthalmological examination made it possible to identify the cause and clarify the nature of the development of glaucoma.
 CONCLUSION: The need for an interdisciplinary approach to the diagnosis, dispensary observation, and treatment of NF-I is emphasized.

Corneal Structural Changes in Congenital Glaucoma.

To identify corneal structure differences on quantitative high-frequency ultrasound biomicroscopy (UBM) among subjects with congenital glaucoma compared with controls. This prospective case-control study evaluated 180 UBM images from 44 eyes of 30 subjects (18 control and 12 glaucoma, mean age 5.2±8.0 years, range 0.2-25.8 years) enrolled in the Pediatric Anterior Segment Imaging and Innovation Study (PASIIS). ImageJ was used to quantify a comprehensive set of corneal structures according to 21 quantitative parameters. Statistical analysis compared corneal measurements in glaucoma subtypes and age-matched controls with significance testing and mixed effects models. Significant differences between congenital glaucoma cases and controls were identified in 16 of 21 measured parameters including angle-to-angle, central and peripheral corneal thicknesses, scleral integrated pixel density, anterior corneal radius of curvature, and posterior corneal radius of curvature. Eight parameters differed significantly between primary congenital glaucoma and glaucoma following congenital cataract surgery. Multiple measurable corneal structural differences exist between congenital glaucoma and control eyes, and between primary and secondary congenital glaucoma, including but not limited to corneal width and thickness. The structural differences can be quantified from UBM image analysis. Further studies are needed to determine whether corneal features associated with glaucoma can be used to diagnose or monitor progression of congenital glaucoma.

Pattern of presentation and visual outcome of glaucoma in a tertiary hospital, Makurdi, Nigeria

Background: About 15% of blindness in Africa is due to glaucoma. The Nigerian National Blindness and Visual Impairment Survey found that glaucoma accounted for 16.7% of blindness with regional variations. The purpose of the study was to find the regional pattern of presentation and visual outcome to implement preventive measures. Methods: This was a descriptive retrospective study of new patients who presented to the eye clinic of Benue State University Teaching Hospital, Makurdi and were diagnosed of glaucoma. Results: In this study, 795 consecutive new patients who fulfilled the diagnostic criteria for glaucoma were included. Their mean age was 45.5 ± 18.3. There were 450 (56.6%) males. More patients presented in the fourth and fifth decade of life (n = 299, 37.6%). Primary open-angle glaucoma (inclusive of juvenile open-angle glaucoma, n =595, 74.8%, and normal tension glaucoma, n = 8, 1.0%) accounted for a total of 603 (75.8%). There were 145 (18.2%) glaucoma suspects, 23 (2.9%) primary angle-closure glaucoma, 20 (2.5%) secondary glaucoma, and four cases of congenital glaucoma. Vertical cup-to-disc ratio of ≥0.9 was in 634 (39.9%) of eyes; 274 (34.4%) were bilateral, and were all considered to have severe, advanced or end-stage glaucoma. About 203 (25.5%) had discs asymmetry of ≥0.2. About 355 (22.3%) patients’ eyes were blind: 95 (11.9%) bilateral and 165 (20.8%) uniocular. Conclusion: Open-angle glaucoma was most common, and patients presented at a young age with severe eye disease, visual impairment, and blindness.

Red reflex test at the maternity hospital: results from a tertiary hospital and variables associated with inconclusive test results

ObjectivesDescribe the results of the red reflex test in full‐term newborns, as well as identify factors associated with red reflex test outcome and compare hospital length of stay between patients with inconclusive and normal red reflex test results. MethodsDescriptive cross‐sectional study of the results of the red reflex test performed in a tertiary hospital maternity unit between 2014 and 2018. A nested case‐control study was also performed to search for anthropometric, gestational, and neonatal variables associated with the outcome of the red reflex test. ResultsThere were121 identified cases of inconclusive red reflex test in 11,833 newborns. Sixteen alterations were confirmed, four considered severe: two cases of congenital glaucoma, one of cataract, and one of coloboma. Mean birth weight (p = 0.04), length (p = 0.03), and head circumference (p = 0.02) were lower in patients with inconclusive red reflex test; however without a relevant effect size (d = ‐0.21, ‐0.22, and ‐0.25, respectively).The proportion of white, mixed‐race, and black patients was significantly different between the groups (p < 0.001), with a higher chance of inconclusive results in mixed‐race (OR = 2.22) and black (OR = 3.37) patients when compared to whites. An inconclusive red reflex test led to an increase in hospital length of stay from 62 to 82hours (p < 0.001). ConclusionsThe red reflex test was able to identify four severe alterations in 11,833 newborns (0.03%). In the 121 newborns in which the red reflex test was classified as inconclusive, there was a 20‐hour increase in the hospital length of stay, but a severe alteration was confirmed in only 3.3% of them. Differences in red reflex between white, mixed‐race, and black patients should be considered.

Red reflex test at the maternity hospital: results from a tertiary hospital and variables associated with inconclusive test results

ObjectivesDescribe the results of the red reflex test in full-term newborns, as well as identify factors associated with red reflex test outcome and compare hospital length of stay between patients with inconclusive and normal red reflex test results. MethodsDescriptive cross-sectional study of the results of the red reflex test performed in a tertiary hospital maternity unit between 2014 and 2018. A nested case-control study was also performed to search for anthropometric, gestational, and neonatal variables associated with the outcome of the red reflex test. ResultsThere were121 identified cases of inconclusive red reflex test in 11,833 newborns. Sixteen alterations were confirmed, four considered severe: two cases of congenital glaucoma, one of cataract, and one of coloboma. Mean birth weight (p=0.04), length (p=0.03), and head circumference (p=0.02) were lower in patients with inconclusive red reflex test; however without a relevant effect size (d=−0.21, −0.22, and −0.25, respectively).The proportion of white, mixed-race, and black patients was significantly different between the groups (p<0.001), with a higher chance of inconclusive results in mixed-race (OR=2.22) and black (OR=3.37) patients when compared to whites. An inconclusive red reflex test led to an increase in hospital length of stay from 62 to 82hours (p<0.001). ConclusionsThe red reflex test was able to identify four severe alterations in 11,833 newborns (0.03%). In the 121 newborns in which the red reflex test was classified as inconclusive, there was a 20-hour increase in the hospital length of stay, but a severe alteration was confirmed in only 3.3% of them. Differences in red reflex between white, mixed-race, and black patients should be considered.

A Case of Congenital Glaucoma in Associated with Nail-patella Syndrome

A Case of Congenital Glaucoma in Associated with Nail-patella Syndrome

G437(P) A case of congenital glaucoma in mosaic down’s syndrome (trisomy 21)

Aims To raise awareness of congenital glaucoma in Mosaic Downs’s syndrome. To encourage use of Down’s Syndrome Medical Interest Group (DSMIG) guidelines for ophthalmic screening in Mosaic Down’s. Methods Assessment of community, medical and surgical records. Literature review of Down’s syndrome and associated eye conditions. Multi–Disciplinary Team (MDT) discussion between paediatric, genetics and ophthalmology specialities to inform future clinical practice. Results Antenatal diagnosis of Mosaic Down’s syndrome confirmed at birth by cord blood sample showing 17% (5/30) cells affected (47XX + 21). Female term birth with no manifestations of Down’s syndrome and discharged home. Neonatal review at birth by ophthalmologist was not undertaken. At 12 weeks of age child presented at a routine community review with photophobia and corneal clouding. On examination she had bilateral buphthalmos with corneal oedema. An urgent ophthalmology review was followed by use of eye drops to relieve raised intraocular pressure. Bilateral goniotomies were performed with a repeat operation later in the left eye. Currently aged 2.5 years she has normal ocular pressures controlled by topical drops and near normal quality of vision. Conclusion There is a documented association between Down’s syndrome and congenital glaucoma but we believe this to be the first report of glaucoma in Mosaic Down’s syndrome. Glaucoma is caused by reduced trabecular drainage. The damage caused by delay in treatment is irreversible. Therefore it is important to detect and treat as early as possible. This rare presentation supports the wide variable expression of mosaic Down’s syndrome from normal to severe phenotype. The severity of symptoms does not correlate with the percentage of mosaic cells. In addition the level of mosaicism in the blood does not reflect the level of mosiacism in other tissues. UK Down’s syndrome medical interest group (DSMIG) guidelines suggest neonatal review by ophthalmologist followed by monitoring of visual behaviour in infancy and comprehensive ophthalmological review by 2 years. We suggest that these guidelines should also be applicable for Mosaic Down’s syndrome follow up irrespective of percentage of cells affected.

Chromosomal Abnormalities and Glaucoma: A Case of Congenital Glaucoma Associated with 9p Deletion Syndrome

Purpose: To present a case of congenital glaucoma associated with 9p22.3-pter deletion as the sole identified genetic abnormality. To compile cases of chromosome 9p deletion associated with congenital glaucoma from the literature. Method: A review of case notes of the proband. Literature search using PubMed and Medline to identify other cases of chromosome 9p deletion associated with congenital glaucoma. Results: A total of four cases of chromosome 9p deletion associated with congenital glaucoma have now been reported in the literature. Conclusion: A female infant with a chromosome 9p22.3-pter deletion presented with congenital glaucoma in addition to systemic features typical of the 9p deletion syndrome. Congenital glaucoma is not an invariant feature of 9p deletion syndrome, nonetheless, 9p24 may localise a gene implicated in the condition.

Chromosomal Abnormalities and Glaucoma: A Case of Congenital Glaucoma with Trisomy 8q22-Qter/ Monosomy 9p23-Pter

Purpose: To present a case of congenital glaucoma with an unbalanced translocation trisomy 8q22-qter/monosomy 9p23-pter, resulting in trisomy of the GLC1D locus. To perform a literature review of chromosomal abnormalities associated with glaucoma. Method: A case report of a family with balanced translocation without glaucoma and unbalanced translocation with congenital glaucoma. PubMed and OMIM databases were searched for reports of chromosomal abnormalities and glaucoma. Results: Other case reports of congenital glaucoma with chromosomal abnormalities in this region were identified. A review of cytogenetics in southeastern Australia found nine cases involving the loss of 9p23 and 10 cases involving mosaicism for trisomy 8, but none had congenital glaucoma. A review of the literature identified reports of glaucoma and chromosomal abnormalities in regions with glaucoma loci mapped by conventional linkage analysis. These include the loci GLC1B, GLC1C, GLC1D, GLC1F, GPDS1, and RIEG2. Conclusion: The study of patients with glaucoma and chromosomal abnormalities may help to identify new glaucoma genes. Ophthalmologists can assist with this by requesting cytogenetic studies on congenital and developmental glaucoma cases and interacting with ophthalmic genetics researchers.

Digenic Inheritance of Early-Onset Glaucoma: CYP1B1, a Potential Modifier Gene

"Early-onset glaucoma" refers to genetically heterogeneous conditions for which glaucoma manifests at age 5-40 years and for which only a small subset is molecularly characterized. We studied the role of MYOC, CYP1B1, and PITX2 in a population (n=60) affected with juvenile or early-onset glaucoma from the greater Toronto area. By a combination of single-strand conformation polymorphism and direct cycle sequencing, MYOC mutations were detected in 8 (13.3%) of the 60 individuals, CYP1B1 mutations were detected in 3 (5%) of the 60 individuals, and no PITX2 mutations were detected. The range of phenotypic expression associated with MYOC and CYP1B1 mutations was greater than expected. MYOC mutations included cases of juvenile glaucoma with or without pigmentary glaucoma and mixed-mechanism glaucoma. CYP1B1 mutations involved cases of juvenile open-angle glaucoma, as well as cases of congenital glaucoma. The study of a family with autosomal dominant glaucoma showed the segregation of both MYOC and CYP1B1 mutations with disease; however, in this family, the mean age at onset of carriers of the MYOC mutation alone was 51 years (range 48-64 years), whereas carriers of both the MYOC and CYP1B1 mutations had an average age at onset of 27 years (range 23-38 years) (P=.001). This work emphasizes the genetic heterogeneity of juvenile glaucoma and suggests, for the first time, that (1) congenital glaucoma and juvenile glaucoma are allelic variants and (2) the spectrum of expression of MYOC and CYP1B1 mutations is greater than expected. We also propose that CYP1B1 may act as a modifier of MYOC expression and that these two genes may interact through a common pathway.

Congenital Glaucoma in Cutis marmorata teleangiectatica congenita

A case of congenital glaucoma in cutis marmorata teleangiectatica congenita (CMTC, van Lohuizen syndrome) is described. The cutaneous anomaly and heterochromia iridium were noticed at birth. Brown discoloration of one iris was due to iris anterior layer dysplasia, resulting in unilateral glaucoma. Two trabeculotomies were performed until persistent normalization of intraocular pressure could be achieved. The possibility of a genetic basis and hereditary condition of CMTC and its association with congenital glaucoma is discussed. Patients with CMTC should regularly undergo ophthalmological follow-up to rule out development of glaucoma.

Goniotomy with intraocular illumination. A preliminary report.

The CLASSICAL Barkan goniotomy procedure is widely used and accepted as the treatment of choice for most cases of congenital glaucoma. In the classical technique, illumination is provided by a hammer light held near the surgeon's head by an assistant who directs it onto the eye along the line of vision of the surgeon. 1-3 If the operation is properly performed, the percentage of success with one or multiple operations is good, but, in practice, the procedure can be exceedingly difficult. One of the most important difficulties encountered is inadequate visualization of the chamber angle during the goniotomy due to problems associated with the illumination system. Reflections from external surfaces can significantly impair the surgeon's view. These reflections arise from the goniotomy lens, the cornea, the knife handle, the knife blade, and from the surgeon's gloved hand. In addition, as the knife is inserted into the eye, the smooth corneal

Short arm enlargement in a G chromosome.

SummaryThe authors report three cases of enlargement in length of the short arm of a G chromosome: in a mother and her trisomy 21 son, and in a child with congenital glaucoma and systemic malformations. They discuss the nature of this odd chromosome. The latter can represent altered chromosomal behavior of anomalous coiling, but it is quite possible that it represents a translocation. The authors observed another case of congenital glaucoma with short arm enlargement in a G chromosome.