The comparison of corneal densitometry in cases with glaucoma following childhood cataract surgery and juvenile glaucoma.

PURPOSE: To compare the corneal densitometry (CD) in pediatric cases with glaucoma following childhood cataract surgery and juvenile open-angle glaucoma (JOAG). METHODS: This prospective comparative study involved 13 eyes with JOAG, 12 eyes with pseudophakic glaucoma, 13 eyes with aphakic glaucoma, and 15 control subjects. Pentacam HR Scheimpflug corneal topography was employed to evaluate corneal thickness (CCT) and CD values. RESULTS: The mean intraocular pressure (IOP) and CCT were significantly higher in aphakic glaucoma cases than the other groups (p = 0.001). In aphakic eyes, the mean CD values were higher in most of the anterior, center, and posterior layers of 0-2 mm, 2-6 mm, 6-10 mm, and total zones (p < 0.001 for all). In pseudophakic eyes, the mean CD values were statistically similar with that of aphakic eyes and higher than that of JOAG and control eyes in all layers of 0-2 mm zone and in anterior layer of 10-12 mm and anterior and total layers of 2-6 mm zones (p < 0.05 for all). The CD values demonstrated significant correlations with CCT values in both aphakic and pseudophakic eyes. However, a significant correlation of CD values with IOP was only demonstrated in aphakic eyes (p = 0.01 for all). CONCLUSION: The probable effects of childhood cataract surgery especially aphakia might cause corneal backscatter of light and increased CD in all layers in all zones of the cornea. Increased CD values and its correlation with CCT and IOP in aphakic glaucoma eyes may be of importance in clinical management.

A comparative study on surgical outcomes of trabeculectomy with and without anti-metabolites in juvenile open-angle glaucoma.

Purpose: To compare the surgical outcomes of trabeculectomy with and without anti-metabolites in patients with juvenile open-angle glaucoma (JOAG). Methods: This retrospective comparative case series included 98 eyes of 66 patients with JOAG who underwent either trabeculectomy without anti-metabolites (group A, n = 53 eyes) or with anti-metabolites (group B, n = 45 eyes) with a minimum of 2 years follow-up. The main outcome measures were intra-ocular pressure (IOP), number of glaucoma medications, visual acuity, additional surgical interventions, surgical complications, and risk factors for failure. Surgical failure was defined as IOP >18 mmHg or failure to reduce IOP by <30% from the baseline value or IOP ≤5 mmHg or re-operation for refractory glaucoma or a complication or loss of light perception vision. Results: The mean post-operative IOP reduced significantly from baseline at all post-operative visits until 6 months and thereafter. The cumulative probability of failure at 2 years was 28.7% in group A [95% confidence interval (CI) = 17.6-44.8%] and 29.1% in group B (95% CI = 17.1-46.7%) (P = 0.78). Surgical complications occurred in 18 eyes (34%) in group A and 19 eyes (42%) in group B. Re-operations for glaucoma or complications were performed in two eyes (3.8%) in group A and two eyes (4.4%) in group B. Cox-hazard regression model revealed male gender (HR = 0.29; P = 0.008), baseline high IOP (HR = 0.95; P = 0.002), and an increased number of pre-operative glaucoma medications (HR = 2.08; P = 0.010) as significant factors associated with failure. Conclusion: : Our study results on trabeculectomy in JOAG revealed a success of 71% in both groups at 2 years follow-up. There was no significant difference in success or failure rates between the two groups. The risk factors for poor surgical outcome in JOAG were male gender, baseline high IOP, and an increased number of glaucoma medications.

PRIMARY OPEN-ANGLE GLAUCOMA DUE TO MUTATIONS IN THE MYOC GENE.

AIM: Mutations in the myocilin gene (MYOC) cause trabecular dysfunction and thus are involved in the pathogenesis of primary open-angle glaucoma (POAG). The aim of this study was to characterize and describe the clinical findings in two Czech families with POAG due to pathogenic variants in the MYOC gene. MATERIAL AND METHODS: Members of the two families affected by POAG underwent complete ophthalmological examination. In the proband from the first family, a direct sequencing of the three most frequent mutations in the MYOC gene was performed, and in the proband from the second family, an exome sequencing was performed. Other family members underwent targeted tests using direct sequencing. RESULTS: In total, 10 individuals diagnosed with POAG aged 20-70 years (mean 32.2 years, SD ±10,9 years) were examined. Eight of them showed advanced glaucomatous neuropathy with severe changes in the retinal nerve fiber layer. Clinical signs of POAG were present in six individuals in the third decade of life already; another four developed POAG during the fourth decade of life. Eight out of 10 patients had to undergo filtration surgery. Surgery was performed within 1 to 7 years of diagnosis, but mostly was performed within 2 years of glaucoma diagnosis. In the first family, MYOC variant c.1099G>A p.(Gly367Arg) was shown in the affected family members; in the second family MYOC variant c.1440C>A p.(Asn480Lys), both in heterozygous state. The changes were assessed as pathogenic. CONCLUSION: Our study is the first to describe mutations in the MYOC gene causing POAG in Czech patients. Genetic testing may be recommended for this diagnosis, especially in individuals with early presentation and a positive family history. Carriers of pathogenic variants of the MYOC gene have a lifetime risk of developing POAG of more than 50% and the course of their disease is often more aggressive, requiring surgical intervention to permanently control the intraocular pressure.

Unilateral advanced glaucoma in isolated congenital ectropion uveae with ipsilateral ptosis: A pictorial description of five children.

Aim: To report the cases of five children with unilateral advanced glaucoma in isolated congenital ectropion uveae (CEU) with ipsilateral ptosis and myopia. Methods: This is an ambispective observational case series. After diagnosing one patient with CEU and glaucoma, consecutive patients presenting with unilateral ptosis, congenital iris anomaly, and glaucoma between 2014 to 2020, and had completed a minimum one-year postoperative follow-up, were analyzed. Results: Of the 1421 newly registered pediatric glaucoma patients in the period under review, five children were diagnosed with CEU. All patients presented with gradual painless diminution of vision in the left eye in early adolescence. The left eye of all patients had peculiar clinical features: mild congenital ptosis, high iris insertion, crypt-less smooth iris surface, congenital ectropion uveae, pigments over anterior lens capsule, high myopia, advanced glaucomatous optic disc cupping, and very high intraocular pressure (IOP), which was > 45 mmHg in all cases. The right eye showed signs of angle dysgenesis with mild anterior iris insertion and numerous fine iris processes. Antiglaucoma medications and angle surgery failed to control the IOP, and all children required glaucoma filtration surgery, resulting in reasonable IOP control. Despite the older age, postoperative strict amblyopia treatment resulted in significant improvement in vision. Conclusions: Although ectropion uveae and ptosis have been present since birth, unilaterality, and the asymptomatic nature of the disease led to the late presentation with irreversible damage. Early surgical management and amblyopia therapy are the cornerstones of management. Abbreviations: CEU = Congenital ectropion uvea, CIES = Congenital Iris Ectropion Syndrome, ASD = Anterior segment dysgenesis syndrome, BCVA = Best-corrected visual acuity, IOP = Intraocular pressure.

Factors affecting the surgical success of trabeculectomy performed as the first surgery in primary pediatric glaucoma.

PURPOSE: To present the outcomes and factors affecting the success of trabeculectomy performed as the first surgery in primary pediatric glaucoma. METHODS: Pediatric patients with primary glaucoma who underwent trabeculectomy as the first surgery were retrospectively reviewed. Age, gender, preoperative intraocular pressure (IOP), operation age, axial length, corneal diameter, anterior segment findings, antimetabolite used, complications, and 1-month, 3-months, 1-year, and most recent postoperative findings were recorded. Postoperative IOP with/without medication of 18 mmHg or less was considered successful. Factors that may have affected surgical success were also evaluated using multivariate analysis. RESULTS: Included in the study were 48 patients, of whom 30 had primary congenital glaucoma and 18 had juvenile glaucoma. The mean preoperative IOP was 36.84 ± 6.30 mmHg, and the mean follow-up time was 7.95 ± 6.93 years. The median operation age value was 100.00 ± 100.83 (median: 60; IQR: 153) months. The postoperative IOP at the 1-month, 3-months, 1-year, and most recent follow-ups were 15.39 ± 6.88, 15.70 ± 7.36, 16.28 ± 7.86, and 17.48 ± 8.44 mmHg, respectively (p = 0.565). While there were no postoperative complications in 24 of the patients (50.0%), the most common complications were choroidal detachment and hypotony. Postoperative complication development was found to be significant as a factor affecting surgical success in the multivariate logistic regression analysis. Surgical success rates for all of the patients were 71.7%, 65.9%, 65.0%, and 61.4% at the 1-month, 3-months, 1-year, and most recent follow-ups, respectively. A significant difference was found between the congenital and juvenile groups in terms of surgical success only at 3 months (p = 0.953, p = 0.042, p = 0.191, p = 0.218; respectively). DISCUSSION/CONCLUSION: The fact that surgical success was partially higher in the juvenile group confirmed the idea that the results of trabeculectomy will be more favorable in patients of older age and without anterior segment anomalies.

Juvenile-onset open-angle glaucoma - A clinical and genetic update.

Juvenile-onset open-angle glaucoma (JOAG) is a subset of primary open-angle glaucoma that is diagnosed before 40 years of age. The disease may be familial or non-familial, with proportions varying among different populations. Myocilin mutations are the most commonly associated. JOAG is characterized by high intraocular pressures (IOP), with many patients needing surgery. The mean age at diagnosis is in the 3rd decade, with a male preponderance. Myopia is a common association. The pathophysiology underlying the disease is immaturity of the conventional outflow pathways, which may or may not be observed on gonioscopy and anterior segment optical coherence tomography. The unique optic nerve head features include large discs with deep, steep cupping associated with high IOP-induced damage. Progression rates among JOAG patients are comparable to adult primary glaucomas, but as the disease affects younger patients, the projected disability from this disease is higher. Early diagnosis, prompt management, and life-long monitoring play an important role in preventing disease progression. Gene-based therapies currently under investigation offer future hope.

Exome sequencing identifies procollagen-lysine 2-oxoglutarate 5-dioxygenase 2 mutations in primary congenital and juvenile glaucoma.

PURPOSE: To report the association of procollagen-lysine 2-oxoglutarate 5-dioxygenase 2 (PLOD2) mutations with bilateral primary congenital glaucoma (PCG) in monozygotic twins and with nondominant juvenile-onset primary open-angle glaucoma (JOAG). METHODS: We utilized family-based whole-exome sequencing to detect disease-causing mutations in a pair of monozygotic twins with de-novo PCG and compared its existence in 50 nonfamilial cases of JOAG and 30 healthy controls. To validate the identified mutations, direct Sanger sequencing was performed. For further evaluation of gene expression in the ocular tissues, we performed whole-mount in situ hybridization in zebrafish embryos. RESULTS: We identified a novel missense mutation (c.1925A>G, p.Tyr642Cys) in the PLOD2 gene in the monozygotic twin pair with PCG and another missense mutation (c.1880G>A, p.Arg627Gln) in one JOAG patient. Both mutations identified were heterozygous. Neither the parents of the twins nor the parents of the JOAG patient harbored the mutation and it was probably a de-novo change. The zebrafish in situ hybridization revealed expression of the PLOD2 gene during embryogenesis of the eye. CONCLUSION: We observed an association of PLOD2 mutations with PCG and with nonfamilial JOAG. This new gene needs to be further investigated for its role in pathways associated with glaucoma pathogenesis.

[Classification, diagnosis and treatment of juvenile glaucoma]. / Klassifikatsiya, diagnostika i lechenie yuvenil'noi glaukomy.

Juvenile open-angle glaucoma is a disease with complex pathogenesis affecting young people of working age that can lead to disability. The article describes modern concepts of diagnosis, classification and approaches to the treatment of juvenile glaucoma with special attention paid to the differential diagnostic criteria of juvenile open-angle glaucoma and congenital glaucoma.

Prevalence of MYOC risk variants for glaucoma in different populations.

PURPOSE: To assess the clinical relevance of myocilin (MYOC) gene variants as risk factors for glaucoma in literature and to estimate their prevalence in different populations. METHODS: We reviewed the literature for published MYOC variants in glaucoma patients and estimated their prevalence in general population using gnomAD and BRAVO databases. We used several bioinformatics tools and the criteria of the American College of Medical Genetics and Genomics (ACMG) to assess the pathogenicity of the variants. We evaluated the carrier frequency of the variants in gnomAD, including its subpopulations. RESULTS: We found 13 missense and 5 loss-of-function (LOF) reported variants in MYOC that were both probable pathogenic or risk variants and listed in gnomAD. Six likely pathogenic missense variants were p.(Cys25Arg), p.(Gln48His), p.(Gly326Ser), p.(Thr353Ile), p.(Thr377Met) and p.(Gly399Val). They were most prevalent in East and South Asia (frequency, 0.92% and 0.81%, respectively). The most common missense variants were p.(Thr353Ile) (0.91% in East Asia) and p.(Gln48His) (0.79% in South Asia). Five LOF variants were p.(Arg46Ter), p.(Arg91Ter), p.(Arg272Ter), p.(Gln368Ter) and p.(Tyr453MetfsTer11). We considered these glaucoma risk variants. They were most prevalent in the East Asian and the Finnish population (0.93% and 0.33%, respectively). CONCLUSION: Pathogenic MYOC variants appear to be population-associated. Our results highlight allelic heterogeneity of MYOC variants in open-angle glaucoma. Many of the probable pathogenic variants are over-represented in some of the populations causing doubt of their status as monogenic disease-causing variants.

Double trouble with the disc - Hickam's dictum versus Occam's razor!

Differentiating glaucomatous and non-glaucomatous optic neuropathy can be challenging even to an experienced clinician and it is even more complex to identify early ophthalmic manifestation of neurological lesions when the optic nerve is already jeopardized by advanced glaucoma. This is a case of a patient with juvenile open-angle glaucoma with advanced glaucomatous cupping who developed an intracranial tuberculoma and subsequent obstructive hydrocephalus. Subtle edema identified in an almost totally damaged nerve, coupled with a history of headache and tinnitus, was the clinching factor prompting early treatment in the form of ventriculoperitoneal shunting and antituberculous therapy. Detailed history, systematic clinical exam, and appropriate imaging are imperative in reducing morbidity and sometimes mortality associated with these neurological conditions.

22q11.2 microduplication syndrome and juvenile glaucoma.

BACKGROUND: 22q11.2 microduplication is a relatively recently recognized syndrome. Findings in affected individuals range from apparent normality to a wide variety of systemic and ocular conditions. We describe the association between 22q11.2 microduplication and juvenile glaucoma in two brothers. MATERIALS AND METHODS: We reviewed ophthalmological, genetic, and hematological medical records of two patients and their unaffected mother. RESULTS: A 2.07 Mb interstitial duplication in 22q11.21 and a smaller 182 kb duplication in 22q11.23 were identified in both subjects. Patient 1 showed an initial intraocular pressure (IOP) of 15 mmHg in right eye (RE) and 32 mmHg in left eye (LE) under maximum medical treatment. Deep sclerectomy surgery in LE was converted to trabeculectomy due to a macroperforation of the trabeculo-descemetic membrane. Postoperatively, the patient developed persistent hypotony with retinal folds, while IOP in RE increased to 28 mmHg. Trabeculectomy in RE was also complicated by persistent hypotony. Autologous blood injection was performed, resulting in an increase in both visual acuity and IOP. Patient 2 presented with an IOP of 29 mmHg in RE and 33 mmHg in LE. We planned an elective trabeculectomy and added orally administered acetazolamide. The patient developed bilinear cytopenia that contraindicated the surgical procedure. After hematologic normalization, the patient underwent trabeculectomy in LE, causing persistent hypotony. We performed deep sclerectomy surgery in RE, without any significant intra- or post-operative complications. CONCLUSIONS: 22q11.2 microduplication syndrome can be associated with juvenile glaucoma. Trabeculectomy may be complicated by persistent hypotony. Deep sclerectomy appears to be a better surgical option, although the presence of a thin sclera may result in conversion to trabeculectomy.

Angle closure glaucoma in congenital ectropion uvea.

PURPOSE: Congenital ectropion uvea is a rare anomaly, which is associated with open, but dysplastic iridocorneal angles that cause childhood glaucoma. Herein, we present 3 cases of angle-closure glaucoma in children with congenital ectropion uvea. OBSERVATIONS: Three children were initially diagnosed with unilateral glaucoma secondary to congenital ectropion uvea at 7, 8 and 13 years of age. The three cases showed 360° of ectropion uvea and iris stromal atrophy in the affected eye. In one case, we have photographic documentation of progression to complete angle closure, which necessitated placement of a glaucoma drainage device 3 years after combined trabeculotomy and trabeculectomy. The 2 other cases, which presented as complete angle closure, also underwent glaucoma drainage device implantation. All three cases had early glaucoma drainage device encapsulation (within 4 months) and required additional surgery (cycloablation or trabeculectomy). CONCLUSIONS AND IMPORTANCE: Congenital ectropion uvea can be associated with angle-closure glaucoma, and placement of glaucoma drainage devices in all 3 of our cases showed early failure due to plate encapsulation. Glaucoma in congenital ectropion uvea requires attention to angle configuration and often requires multiple surgeries to obtain intraocular pressure control.

Phenotypic differences between familial versus non-familial Juvenile onset open angle glaucoma patients.

AIM: To evaluate phenotypic differences among familial and non-familial JOAG patients. METHODS: First degree relatives of unrelated JOAG patients were screened for glaucoma and ocular hypertension. JOAG probands were grouped as familial or non-familial and phenotypic differences in terms of age of onset, gender, baseline untreated IOP, presence angle dysgenesis, and refractive error was compared between the two groups. RESULTS: Out of 368 unrelated JOAG patients, 134 in whom all first degree relatives had been examined were included in the study. The non-familial JOAG (n = 96) had similar age of onset as familial JOAG (n = 38); (p = 0.076) but had greater male preponderance (p = 0.046), and had the higher baseline IOP (p = 0.044) compared to familial JOAG. However, on adjustment using the Bonferroni correction, the observed differences were not found to be significant. Both groups had similar proportion of patients with angle dysgenesis (p = 0.46) and high myopia (p = 0.72). CONCLUSIONS: Non-familial JOAG were not found to be phenotypically different from the familial JOAG patients in this cohort.

Comparison of Refractive Status and Anterior Segment Parameters of Juvenile Open-Angle Glaucoma and Normal Subjects

Objectives: Our aim was to compare the refractive status and anterior segment parameters of patients with juvenile open-angle glaucoma (JOAG) and normal subjects. Materials and Methods: Twenty-five recently diagnosed cases of JOAG and 24 normal subjects were included in this prospective controlled clinical trial. Central corneal thickness (CCT), anterior chamber depth (ACD), lens thickness (LT), axial length (AL), K1 and K2 keratometry, and white-to-white distance (WTW) measurements were performed with optical biometry (LenStar LS 900, Haag Streit Diagnostics). Spherical equivalent (SE) values and anterior segment parameters were statistically compared by chi-square, Kolmogorov- Smirnov, and independent samples t-tests. Results: The mean age of the 15 male and 10 female JOAG patients was 11.8±2.78 (8-18) years and the mean age of the 14 male and 10 female normal subjects was 11.58±3.04 (7-16) years (age: p=0.51; sex: p=0.18). Mean intraocular pressure in the JOAG group before treatment was 30.08±4.3 mmHg. The mean SE values of the JOAG and the control group were -1.94±1.86 (+2.35/-5.5) and -0.76±2.03 (+2.25/-4.85) diopters, respectively (p=0.048). JOAG patients had lower mean CCT values (p=0.016) and higher mean AL and ACD values (p=0.049 and p=0.016). There were no significant differences between the groups for LT, WTW, K1, or K2 (p=0.61; p=0.52; p=0.95; p=0.31 respectively). Conclusion: JOAG patients were found to be more myopic and have lower CCT and greater AL and ACD values than normal subjects. These anterior segment changes may be associated with myopia, which is common in JOAG.

Role of CYP1B1, p.E229K and p.R368H mutations among 120 families with sporadic juvenile onset open-angle glaucoma.

BACKGROUND: To determine the frequency of CYP1B1 p.E229K and p.R368H, gene mutations in a cohort of sporadic juvenile onset open-angle glaucoma (JOAG) patients and to evaluate their genotype/phenotype correlation. METHODS: Unrelated JOAG patients whose first-degree relatives had been examined and found to be unaffected were included in the study. The patients and their parents were screened for p.E229K and p.R368H mutations. The phenotypic characteristics were compared between probands carrying the mutations and those who did not carry these mutations. RESULTS: Out of 120 JOAG patients included in the study, the p.E229K mutation was seen in 9 probands (7.5%) and p.R368H in 7 (5.8%). The average age of onset of the disease (p = 0.3) and the highest untreated IOP (p = 0.4) among those carrying mutations was not significantly different from those who did not have these mutations. The proportion of probands with angle dysgenesis among those with p.E229K and p.R368H mutations was 70% (11 out of 16) in comparison to 65% (67 out of 104) of those who did not harbour these mutations (p = 0.56). Similarly, the probands with moderate to high myopia among those with p.E229K and p.R368H mutations was 20% (3 out of 16) in comparison to 18% (18 out of 104) of those who did not harbour these mutations (p = 0.59). CONCLUSION: The frequency of p.E229K and p.R368H mutations of the CYP1B1 gene is low even among sporadic JOAG patients. Moreover, there is no clinical correlation between the presence of these mutations and disease severity.

The inheritance of juvenile onset primary open angle glaucoma.

Juvenile onset open angle glaucoma (JOAG) affects patients before 40 years of age, who present with high intraocular pressure and deep steep cupping of the optic nerve head. While it was considered to be inherited in an autosomal dominant fashion, recent studies have shown an autosomal recessive pattern as well as sporadic occurrence of the disease in several families. In this review, we analyze the genetic basis of the disease along with common mutations and their association with JOAG. We also analyzed the inheritance patterns in a large group of unrelated JOAG patients (n = 336) from Northern India wherein the prevalence of familial occurrence was assessed and segregation analysis performed, to determine the mode of inheritance.

Changes in the thickness of the macular ganglion cell complex and retinal nerve fiber layer over time after surgery in a case of juvenile glaucoma.

PURPOSE: To report longitudinal changes over time after surgery in the topography of the optic disc, thickness of the circum papillary retinal nerve fiber layer (c-RNFL), and thickness of the macular ganglion cell complex (m-GCC) in a case of juvenile open angle glaucoma. OBSERVATIONS: Case report based on one patient. After significant edema of the optic disc for 2 months, the cup depth and cup volume measured by Heidelberg retina tomograph images showed reversal, which lasted for 3 years. The c-RNFL thickness and m-GCC thickness measured by spectral domain optical coherence tomography first increased for a week and then continued to decrease until 6 months after operation. These two parameters reached a plateau after 3 years. The mean deviation of global visual field indices of the Humphrey visual field revealed a very mild reduction for this 3 year period. CONCLUSIONS AND IMPORTANCE: In juvenile onset glaucoma, changes in c-RNFL thickness and m-GCC thickness after operation were not consistent with changes in optic disc cupping. Changes in the thicknesses of the c-RNFL or m-GCC, rather than changes in the optic disc changes, may be good surrogate measures to confirm the effectiveness of glaucoma surgery.

Risk of perimetric blindness among juvenile glaucoma patients.

AIM: To estimate rates of progression and to asssess the projected lifetime risk of blindness among treated eyes of juvenile-onset primary open glaucoma (JOAG) patients. METHODS: Rates of change of the visual field index of JOAG patients (diagnosed between the age of 10-40 years), with at least 5 year follow up, were used to estimate the lifetime risk of perimetric blindness. Both the eyes of patients were included in the analysis wherever possible. Average life expectancy of the population was used to calculate the lifetime risk of perimetric blindness. A regression analysis of factors contributing to faster rates of progression was performed. RESULTS: One hundred and two eyes of 54 patients were included in the study. Mean age at the time of baseline visual field was 26.6 ± 9.8 years (15-40 years). The average visual field index change per year was -0.9% (range -6.4 to +2.0% per year) and 18 eyes (17%) showed a progression greater than -2% per year. The cumulative risk of an eye losing 50% and 100% of its visual field index was 30% and 22% respectively over the patients' lifetime. The projected risk of bilateral blindness among JOAG patients over their lifetime was 10%. Long term IOP fluctuation was significantly associated with faster rates of progression (Odds ratio = 2.74; p = 0.012). CONCLUSIONS: Though the rate of visual field deterioration with treatment, among juvenile glaucoma patients is lower compared to that among other types of primary glaucoma, the projected lifetime risk of perimetric blindness in these eyes is similar, despite the longer duration of disease in this age group.

Agreement in identification of glaucomatous progression between the optic disc photography and Heidelberg retina tomography in young glaucomatous patients.

AIM: To evaluate concordance between the clinical assessment of glaucomatous progression of the optic disc photography and progression identified by Heidelberg Retina Tomograph (HRT) in patients with suspected primary juvenile open angle glaucoma (JOAG). METHODS: Optic disc photographs and corresponding HRT II series were reviewed. Optic disc changes between first and final photographs were noted as well as progression identified by HRT topographic change analysis (TCA) and rim area regression line (RARL) Agreement between progression indentified by photography and HRT methods was assessed. Progression, determined from optic disc photographs by consensus assessment was used as the reference standard. RESULTS: A total of 31 patients (59 eyes) with suspected JOAG were studied. Agreement for progression/no progression between TCA and photography was obtained in 4 progressing eyes and 38 stable eyes (71.19%, k=0.11). Agreement for progression/no progression between RARL and photography was detected in 5 progressing eyes and in 34 stable eyes (66.10%, k=0.15). The number of HRT per patient was statistically higher in the progressing group (P=0.034). CONCLUSION: Agreement for detection of longitudinal changes between photography and HRT analysis was poor. One way to improve the chance of discovery of the progression could be increasing the number of HRT examinations.

Caracterización del glaucoma juvenil / Characterization of juvenile glaucoma

INTRODUCCIÓN. El glaucoma no es frecuente en los niños, pero cuando ocurre sus síntomas son poco perceptibles y produce graves consecuencias para la salud visual. El objetivo de este estudio fue caracterizar, desde las aristas clínica y epidemiológica, a los pacientes con glaucoma juvenil atendidos en los servicios de oftalmología de los Hospitales Pediátricos del Cerro y Pedro Borrás, en Ciudad de La Habana, en el período comprendido entre enero de 2008 y diciembre de 2009. MÉTODOS. Se realizó un estudio epidemiológico longitudinal y prospectivo, cuyo universo estuvo constituido por 176 pacientes entre 5 y 18 años de edad, con presunto glaucoma. La muestra, despues de aplicados los criterios de inclusión y exclusión, quedó conformada por 38 casos. Se analizaron las variables: edad al momento del diagnóstico, sexo, color de la piel, antecedentes familiares según grado de parentesco, agudeza visual máxima corregida, tipo de defecto refractivo, características del ángulo camerular, espesor corneal central, valor de la presión intraocular, alteraciones fundoscópicas y campimétricas. RESULTADOS. En la mayoría de los pacientes el diagnóstico de glaucoma juvenil constituyó un hallazgo. La mediana de edad al momento del diagnóstico fue de 12,5 años, con ligero predominio de varones y de la piel no blanca. Fue más frecuente el antecedente de glaucoma en familiares de segundo grado de consanguinidad. La mayoría de los casos tenía visión óptima, algún grado de miopía y ángulo abierto sin alteraciones evidentes del ángulo camerular, entre las cuales la más frecuente fue la presencia de procesos iridianos prominentes. CONCLUSIONES. Predominaron la disminución moderada del espesor corneal y valores medios de presión intraocular de 26,91 mm Hg. La alteración fundoscópica encontrada con mayor frecuencia fue la excavación papilar moderada (entre 0,4 y 0,5) y como lesión campimétrica, el aumento de la mancha ciega

INTRODUCTION. The glaucoma is infrequent in children but when it is present symptoms are not easily noticeable and produce severe consequences for visual health. The aim of present study was to characterize, from the clinical and epidemiologic point of view, the patients presenting with juvenile glaucoma seen in Ophthalmology services of the Cerro and Pedro Borrás Children Hospitals in Ciudad de La Habana from January, 2008 to December, 2009. METHODS. A prospective, longitudinal and epidemiologic study was conducted in 176 patients aged between 5 and 18 with a supposed glaucoma. Sample, after applied the inclusion and exclusion criteria, included 38 cases. Variables analyzed were: age at diagnosis, sex, skin color, family backgrounds according the relationship grade, corrected maximal visual acuity, type of refractive defect, characteristics of cell angle, central corneal thickness, the value of intraocular pressure, fundoscopy and campimetry alterations. RESULTS. In most of patients the diagnosis of juvenile glaucoma was a finding. The mean age at diagnosis was of 12,5 years, with slight predominance of males and of white skin color. The history of glaucoma in second grade blood relation relatives was more frequent. Most of cases had an optimal vision, some degree of myopia and open angle without obvious of cell angle where the more frequent was the presence of prominent iridic processes. CONCLUSIONS. There was predominance of a moderate decrease of corneal thickness and mean values of intraocular pressure of 26,91 mm Hg. The more frequent fundoscopy alteration found was the moderate papillary excavation (between 0,4 and 0,5) and as campimetry lesion, it was the increase in the black spot.