Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management

Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of sporadic cases. Childhood glaucoma is classified in primary and secondary congenital glaucoma, further divided as glaucoma arising in dysgenesis associated with neural crest anomalies, phakomatoses, metabolic disorders, mitotic diseases, congenital disorders, and acquired conditions. Neural crest alterations lead to the wide spectrum of iridocorneal trabeculodysgenesis. Systemic diseases associated with childhood glaucoma include the heterogenous group of phakomatoses where glaucoma is frequently encountered in the Sturge-Weber syndrome and its variants, in phakomatosis pigmentovascularis associated with oculodermal melanocytosis, and more rarely in neurofibromatosis type 1. Childhood glaucoma is also described in systemic disorders of mitotic and metabolic activity. Acquired secondary glaucoma has been associated with uveitis, trauma, drugs, and neoplastic diseases. A database research revealed reports of childhood glaucoma in rare diseases, which do not include glaucoma in their manifestation. These are otopalatodigital syndrome, complete androgen insensitivity, pseudotrisomy 13, Brachmann-de Lange syndrome, acrofrontofacionasal dysostosis, caudal regression syndrome, and Wolf-Hirschhorn syndrome

The Accuracy of Accredited Glaucoma Optometrists in the Diagnosis and Treatment Recommendation for Glaucoma

Background/aims: To compare the diagnostic performance of accredited glaucoma optometrists (AGO) for both the diagnosis of, and decision to treat glaucoma with that of routine hospital eye care against a reference standard of expert opinion, i.e. consultant ophthalmologist with a special interest in glaucoma. Methods: A directly comparative, masked, performance study was performed in Grampian, Scotland. 165 people were invited to participate and, of those, 100 (61%) were examined. People suspected of having glaucoma underwent a full ophthalmic assessment both in a newly established, community optometry led, glaucoma management scheme and in a consultant led hospital eye service within a month. Results: The agreement between the AGO and the consultant ophthalmologist in the diagnosis of glaucoma was substantial (89%, kappa = 0.703, SE=0.083). The agreement regarding the need for treatment was also substantial (88%, kappa = 0.716, SE =0.076). The agreement between the trainee ophthalmologists and the consultant ophthalmologist in the diagnosis of glaucoma and treatment recommendation were moderate (83%, kappa = 0.541, SE = 0.098, SE = 0.98; and 81%, kappa = 0.553, SE = 0.90, respectively). The diagnostic accuracy of the optometrists in detecting glaucoma in this population was high for specificity (0.93 [95% CI 0.85 to 0.97]) but lower for sensitivity at 0.76 (95% CI 0.57 to 0.89). The performance was similar when accuracy was assessed for treatment recommendation (sensitivity, 0.73[95% CI 0.57 to 0.85]; specificity 0.96[95% CI 0.88 to 0.99]). The differences in sensitivity and specificity between AGO and junior ophthalmologist was not statistically significant.Conclusions: Community optometrists trained in glaucoma provided satisfactory decisions regarding diagnosis and initiation of treatment for glaucoma. With such additional training in glaucoma optometrists are at least as accurate as junior ophthalmologists but some cases of glaucoma missed.Chief Scientist Office of the Scottish Executive Health Departmen

Management of Glaucoma in the Maltese Health Service

Glaucoma is a disease with characteristic changes of the optic nerve, visual field and raised intra ocular pressure. Its prevalence varies between, 1.6 to 8% and is dependent on the ethnic composition of the population and it is one of the leading causes of blindness in the developed world. There are 67 800 000 people worldwide suffering from glaucoma.1 In recent years, a number of highly potent topical medications have been introduced. These have substantially improved the conservative management of glaucoma. New laser techniques are also being used and safer operative techniques have been developed in order to cope with the more resistant cases of glaucoma. A previous study on `Glaucoma in Malta', conducted in 1989, established that 3% of Maltese population over the age of 40 suffers from glaucoma.2 This study was carried out in order to assess the management of glaucoma patients in the Maltese Government Health Service at the present time.peer-reviewe

Mobile Glaucoma Detection Application

Glaucoma is a debilitating optical degeneration disease that can lead to vision loss and eventually blindness. Given its asymptomatic nature, most people with Glaucoma aren’t even aware that they have the disease. As a result, the disease is often left untreated until it is too late. Detecting the presence of Glaucoma is one of the most important steps in treating Glaucoma, but is unfortunately also the most difficult to enforce. The Mobile Glaucoma Detection application aims to reduce the growing number of individuals who are unaware that they have Glaucoma by providing a simple detection mechanism to notify users if they are at risk. The system does this by enabling its users to independently conduct Tonometry exams through the application. Tonometry examinations allow doctors to determine if the intra-ocular pressure levels in a person’s eyes put them at risk for Glaucoma. The M.G.D.A(Mobile Glaucoma Detection Application) allows users to determine their intra-ocular pressure levels from the comfort of their own home via a special contact lens paired with a smartphone application. The system also offers users the opportunity to monitor, regulate, and track their use and progress through the system

Peripapillary and macular choroidal thickness in glaucoma.

PurposeTo compare choroidal thickness (CT) between individuals with and without glaucomatous damage and to explore the association of peripapillary and submacular CT with glaucoma severity using spectral domain optical coherence tomography (SD-OCT).MethodsNinety-one eyes of 20 normal subjects and 43 glaucoma patients from the UCLA SD-OCT Imaging Study were enrolled. Imaging was performed using Cirrus HD-OCT. Choroidal thickness was measured at four predetermined points in the macular and peripapillary regions, and compared between glaucoma and control groups before and after adjusting for potential confounding variables.ResultsThe average (± standard deviation) mean deviation (MD) on visual fields was -0.3 (±2.0) dB in controls and -3.5 (±3.5) dB in glaucoma patients. Age, axial length and their interaction were the most significant factors affecting CT on multivariate analysis. Adjusted average CT (corrected for age, axial length, their interaction, gender and lens status) however, was not different between glaucoma patients and the control group (P=0.083) except in the temporal parafoveal region (P=0.037); nor was choroidal thickness related to glaucoma severity (r=-0.187, P=0.176 for correlation with MD, r=-0.151, P=0.275 for correlation with average nerve fiber layer thickness).ConclusionsChoroidal thickness of the macular and peripapillary regions is not decreased in glaucoma. Anatomical measurements with SD-OCT do not support the possible influence of the choroid on the pathophysiology of glaucoma

Prevalance study of glaucoma in Malta and Gozo

A glaucoma survey was carried out in Malta and Gozo. Using non-contact pulseair tonometer, 2245 participants selected on a random basis, aged 40 years and above, were examined and 3.29% were found to have glaucoma. Among them 1.69% were newly detected glaucoma cases. The main risk factors were diabetes mellitus in the personal past history and glaucoma in the family history. Age was confirmed to be a risk factor, but arterial hypertension and myopia could not be proved as risk factors. About 4000 glaucoma cases were estimated to be present in Malta and Gozo at the time of the survey. Some other ocular conditions were also found in relatively high percentages: cataract -3.3%, myopic maculopathy -2.9% and diabetic retinopathy -1.5%.peer-reviewe

Optical Coherence Tomography Angiography Vessel Density in Healthy, Glaucoma Suspect, and Glaucoma Eyes.

PurposeThe purpose of this study was to compare retinal nerve fiber layer (RNFL) thickness and optical coherence tomography angiography (OCT-A) retinal vasculature measurements in healthy, glaucoma suspect, and glaucoma patients.MethodsTwo hundred sixty-one eyes of 164 healthy, glaucoma suspect, and open-angle glaucoma (OAG) participants from the Diagnostic Innovations in Glaucoma Study with good quality OCT-A images were included. Retinal vasculature information was summarized as a vessel density map and as vessel density (%), which is the proportion of flowing vessel area over the total area evaluated. Two vessel density measurements extracted from the RNFL were analyzed: (1) circumpapillary vessel density (cpVD) measured in a 750-μm-wide elliptical annulus around the disc and (2) whole image vessel density (wiVD) measured over the entire image. Areas under the receiver operating characteristic curves (AUROC) were used to evaluate diagnostic accuracy.ResultsAge-adjusted mean vessel density was significantly lower in OAG eyes compared with glaucoma suspects and healthy eyes. (cpVD: 55.1 ± 7%, 60.3 ± 5%, and 64.2 ± 3%, respectively; P < 0.001; and wiVD: 46.2 ± 6%, 51.3 ± 5%, and 56.6 ± 3%, respectively; P < 0.001). For differentiating between glaucoma and healthy eyes, the age-adjusted AUROC was highest for wiVD (0.94), followed by RNFL thickness (0.92) and cpVD (0.83). The AUROCs for differentiating between healthy and glaucoma suspect eyes were highest for wiVD (0.70), followed by cpVD (0.65) and RNFL thickness (0.65).ConclusionsOptical coherence tomography angiography vessel density had similar diagnostic accuracy to RNFL thickness measurements for differentiating between healthy and glaucoma eyes. These results suggest that OCT-A measurements reflect damage to tissues relevant to the pathophysiology of OAG

Macular Pigment and Visual Function in Patients With Glaucoma: The San Diego Macular Pigment Study.

PurposeAlthough recent studies have shown that macular pigment (MP) is significantly lower in glaucoma patients, this relationship merits further investigation.MethodsThis cross-sectional study included 85 glaucoma patients and 22 controls. All subjects had standard automated perimetry (SAP) and retinal nerve fiber layer (RNFL) thickness measurements. Intake of lutein (L) and zeaxanthin (Z) was estimated using a novel dietary screener. The Heidelberg Spectralis dual-wavelength autofluorescence (AF) technology was employed to study the relationship between MP and glaucoma. The association between MP volume and glaucoma was investigated using linear regression models accounting for potential confounding factors.ResultsGlaucoma patients had significantly worse SAP mean deviation (MD) and lower RNFL thickness in the study eye compared to control subjects (P < 0.001 for both). MP (volume) was comparable between groups (P = 0.436). In the univariable model, diagnosis of glaucoma was not associated with MP volume (R2 = 1.22%; P = 0.257). Dietary intake of L and Z was positively and significantly related to MP in the univariable (P = 0.022) and multivariable (P = 0.020) models.ConclusionsThese results challenge previous studies that reported that glaucoma is associated with low MP. Dietary habits were found to be the main predictor of MP in this sample. Further research is merited to better understand the relationship between glaucoma, MP, and visual performance in these patients

Effects of glaucoma and snoring on cerebral oxygenation in the visual cortex: a study using functional Near Infrared Spectroscopy (fNIRS)

Purpose: The purpose of this study was to investigate the effects of snoring and glaucoma on the visual Haemodynamic Response (HDR) using functional Near Infrared Spectroscopy (fNIRS). Methods: We recruited 8 glaucoma patients (aged 56-79), 6 habitual snorers (aged 26-61) and 10 healthy control participants (aged 21-78). Glaucoma patients were of varying subtypes and under care of ophthalmologists. Prior to testing visual acuity, blood pressure, heart rate and a medical history were taken. HDRs were recorded over the primary visual cortex (V1) using a reversing checkerboard paradigm. Results & Discussion: All participants showed the characteristic increase of Oxyhaemoglobin concentration ([HbO]) and decrease of Deoxyhaemoglobin concentration ([HbR]) during visual stimulation (p < 0.001, η2 = 0.78). Despite this, there were signifi cant group differences with a large effect size (η2 = 0.28). During visual stimulation normal participants had greater [HbO] compared to snorers and glaucoma patients (p < 0.01). Both glaucoma patients and snorers presented with comparable HDR for [HbO] and [HbR] in V1. Importantly, during visual stimulation, the increased [HbO] in glaucoma patients correlated well with their visual fi elds and self-reported activities of daily living (r = -0.98, r = -0.82, p < 0.05). Both glaucoma patients and snorers presented with an attenuated HDR in V1. Our results suggest a possible vascular link between these conditions