Rod-cone dystrophy in an adult with GNB1-related disorder: An expansion of the phenotype and natural history.

GNB1-related disorder is characterized by intellectual disability, abnormal tone, and other variable neurologic and systemic features. GNB1 encodes the ß1 subunit of the heterotrimeric G-protein, a complex with a key role in signal transduction. Consistent with its particularly high expression in rod photoreceptors, Gß1 forms a subunit of retinal transducin (Gαtß1γ1 ), which mediates phototransduction. In mice, GNB1 haploinsufficiency has been associated with retinal dystrophy. In humans, however, although vision and eye movement abnormalities are common in individuals with GNB1-related disorder, rod-cone dystrophy is not yet an established feature of this condition. We expand the phenotype of GNB1-related disorder with the first confirmed report of rod-cone dystrophy in an affected individual, and contribute to a further understanding of the natural history of this condition in a mildly affected 45-year-old adult.

Acute zonal occult outer retinopathy in a patient with retinitis pigmentosa.

A 30-year-old woman with a phenotypic presentation of retinitis pigmentosa (RP) presented with a 5-day history of painless, acute vision loss in her right eye, with visual acuity dropping from 20/30 to hand motions. Optical coherence tomography of the right macula showed near-complete loss of the ellipsoid layer. Treatment with a prolonged course of oral prednisone resulted in a complete structural regeneration of the ellipsoid layer and improvement of visual acuity to 20/50, with eccentric fixation. Tests for infectious diseases, autoimmune disorders, and rare RP mimic syndromes (eg, Refsum disease) were negative. The patient has remained stable since. We favor a diagnosis of two separate pathologies and suggest a designation of acute zonal occult outer retinopathy (AZOOR) in RP for this previously unreported presentation.

Results From the First Teleglaucoma Pilot Project in Addis Ababa, Ethiopia.

PRECIS: A teleglaucoma case-finding model was utilized in Ethiopia using a high-risk case identification approach. An overall 7.9% of patients had definite glaucoma, and 13.8% were glaucoma suspects. Most cases could be managed medically. BACKGROUND: This study was carried out to analyze disease prevalence and clinical referral pathways for high-risk patients assessed through a hospital-based teleglaucoma case-finding program. METHODS: Patients over the age of 35 years were referred from outpatient diabetic and hypertensive clinics. Through a teleglaucoma consultation, a glaucoma specialist provided remote diagnosis and management recommendations. Patient referral pathways were analyzed. Part way through the program, frontline ophthalmic nurses and optometrists were empowered to refer patients to be seen by general ophthalmologists within a week if patients met high-risk criteria. Qualitative stakeholder feedback was also obtained. RESULTS: A total of 1002 patients (53% female) were assessed with a mean age of 51.0±11.7 years. The prevalence of glaucoma and glaucoma suspects was 7.9% (79 cases) and 13.8% (138 cases), respectively. Retinopathy was found in 9.1%, with hypertensive retinopathy (2.7%) and diabetic retinopathy (2.5%) representing the majority of cases. Age-related macular degeneration was present in 1.5% and cataract in 16%. An overall 63% of cases were without organic eye disease. 35% of patients were referred to a general ophthalmologist, 0.7% to a glaucoma specialist (for surgery), 1.5% to a retina specialist, and 17.7% to an optometrist for further care. Qualitative analysis revealed that stakeholders felt the value of teleglaucoma would be in triaging patients requiring more urgent management and in identifying disease at an earlier stage. CONCLUSIONS: There is a high prevalence of glaucoma in Ethiopian patients assessed through this teleglaucoma program. This model and study have also demonstrated various principles behind telemedicine, such as the development of an intelligent triage system, case-finding for a variety of diseases, and consideration of optimal patient flow/referral pathways.

Compressed 3D and 2D digital images versus standard 3D slide film for the evaluation of glaucomatous optic nerve features.

SYNOPSIS: Clinicians can feel confident compressed three-dimensional digital (3DD) and two-dimensional digital (2DD) imaging evaluating important features of glaucomatous disc damage is comparable to the previous gold standard of stereoscopic slide film photography, supporting the use of digital imaging for teleglaucoma applications. BACKGROUND/AIMS: To compare the sensitivity and specificity of 3DD and 2DD photography with stereo slide film in detecting glaucomatous optic nerve head features. METHODS: This prospective, multireader validation study imaged and compressed glaucomatous, suspicious or normal optic nerves using a ratio of 16:1 into 3DD and 2DD (1024×1280 pixels) and compared both to stereo slide film. The primary outcome was vertical cup-to-disc ratio (VCDR) and secondary outcomes, including disc haemorrhage and notching, were also evaluated. Each format was graded randomly by four glaucoma specialists. A protocol was implemented for harmonising data including consensus-based interpretation as needed. RESULTS: There were 192 eyes imaged with each format. The mean VCDR for slide, 3DD and 2DD was 0.59±0.20, 0.60±0.18 and 0.62±0.17, respectively. The agreement of VCDR for 3DD versus film was κ=0.781 and for 2DD versus film was κ=0.69. Sensitivity (95.2%), specificity (95.2%) and area under the curve (AUC; 0.953) of 3DD imaging to detect notching were better (p=0.03) than for 2DD (90.5%; 88.6%; AUC=0.895). Similarly, sensitivity (77.8%), specificity (98.9%) and AUC (0.883) of 3DD to detect disc haemorrhage were better (p=0.049) than for 2DD (44.4%; 99.5%; AUC=0.72). There was no difference between 3DD and 2DD imaging in detecting disc tilt (p=0.7), peripapillary atrophy (p=0.16), grey crescent (p=0.1) or pallor (p=0.43), although 3D detected sloping better (p=0.013). CONCLUSIONS: Both 3DD and 2DD imaging demonstrates excellent reproducibility in comparison to stereo slide film with experts evaluating VCDR, notching and disc haemorrhage. 3DD in this study was slightly more accurate than 2DD for evaluating disc haemorrhage, notching and sloping.

Northern Alberta remote teleglaucoma program: clinical outcomes and patient disposition.

OBJECTIVE: To review the diagnostic outcomes and clinical referral pathways of patients assessed and managed through a collaborative care patient-centred teleglaucoma program. STUDY DESIGN: Retrospective cohort study. METHODS: Eligible patients were those assessed by the referring optometrist or ophthalmologist to be open-angle glaucoma suspects or to have definite early open-angle glaucoma. A glaucoma specialist graded each case through virtual consultation. Clinical referral pathways were noted: in-person consultation with glaucoma specialist, repeat teleconsultation, collaborative glaucoma management with optometrist, or referral for nonglaucomatous ophthalmic pathology. RESULTS: A total of 247 patients were referred to the program from 2008 to 2012. Of all teleconsults, 31.1% were diagnosed with glaucoma, 42.1% were suspects, and 26.7% were unaffected. Of all patients, 27% were referred for in-person glaucoma evaluation; 69% of patients could be managed by their referring optometrist, with 48% of patients requiring repeat teleconsultation. Treatment was initiated before being seen for 87% of patients with definite glaucoma and 28% of glaucoma suspects. CONCLUSIONS: Of all patients seen through the remote teleglaucoma program, most did not require an in-person consultation with an ophthalmologist and could be managed through distance collaboration. For the approximately one third who were diagnosed with glaucoma based on virtual assessment, medication was started in the majority of cases and in-person consultation was arranged. Further studies to validate and consider cost-effectiveness of this system are under way.

Teleglaucoma: improving access and efficiency for glaucoma care.

Teleglaucoma is the application of telemedicine for glaucoma. We review and present the current literature on teleglaucoma; present our experience with teleglaucoma programs in Alberta, Canada and Western Australia; and discuss the challenges and opportunities in this emerging field. Teleglaucoma is a novel area that was first explored a little over a decade ago and early studies highlighted the technical challenges of delivering glaucoma care remotely. Advanced technologies have since emerged that show great promise in providing access to underserviced populations. Additionally, these technologies can improve the efficiency of healthcare systems burdened with an increasing number of patients with glaucoma, and a limited supply of ophthalmologists. Additional benefits of teleglaucoma systems include e-learning and e-research. Further work is needed to fully validate and study the cost and comparative effectiveness of this approach relative to traditional models of healthcare.

The use of teleglaucoma at the University of Alberta.

The aim of the teleglaucoma service at the University of Alberta is to improve access for people in northern Alberta who have early-stage glaucoma or who are at risk for glaucoma. Two types of teleglaucoma service are offered: remote and in-house. A standardized approach is used to capture patient information (structured histories, examinations and fundus photographs) which is then sent to a tertiary care centre for grading and recommendations. Only one grader reads and makes management recommendations for each case. Reports are sent electronically. A total of 195 cases have been graded through the remote service since 2008. A total of 62 cases have been graded through the in-house service since 2011. The average reporting time for consultations in the in-house service was 7 days, and it was also 7 days for the remote service. We believe that the use of teleglaucoma can improve the way that patients are diagnosed and managed, both in industrialized and developing countries. Teleglaucoma is currently being used as a screening tool at the Aga Khan University Hospital in Nairobi with mobile units equipped with a fundus camera and a visual field machine.

Survey of complementary and alternative medicine use in glaucoma patients.

PURPOSE: To determine the prevalence, types, and associated factors of complementary and alternative medicine (CAM) use in glaucoma patients. PATIENTS AND METHODS: Prospective, multicenter, cross-sectional survey. A total of 1516 consecutive patients attending 2 tertiary glaucoma clinics were surveyed on CAM use. Information gathered on standardized data collection sheets included demographic variables, ophthalmic history, glaucoma treatment history, and details of CAM use. RESULTS: The response rate was 92.5%. A total of 166 patients (10.9%) reported current use of CAM therapy specifically for glaucoma whereas 41 patients (2.7%) reported past use of CAM. Of the patients who reported CAM use, 62.5% had not disclosed the use of CAM to their ophthalmologist and 40.5% believed that the treatments were helping their glaucoma. The most commonly used types of CAM were herbal medications (34.5%), dietary modifications (22.7%), and vitamin/mineral supplements (18.8%). Of the 207 patients who reported current or past CAM use for their glaucoma, 3 (1.4%) indicated that they used conventional glaucoma treatments < prescribed because of their CAM use. CONCLUSIONS: Approximately 1 in 9 glaucoma patients use CAM for their disease. Many of these patients do not disclose the use of CAM to their ophthalmologist, but the vast majority report that they still take conventional glaucoma medications as prescribed.

Concurrent endophthalmitis and orbital cellulitis in a child with congenital glaucoma and a glaucoma drainage device.

A 3-year-old monocular boy with a history of congenital glaucoma and aqueous shunt implantation presented with periorbital swelling, erythema, and purulent discharge in his seeing right eye. Examination revealed an extensive hypopyon. Computed tomography (CT) showed right-sided proptosis, and a displaced aqueous shunt device deep in the orbit. Significant purulent fluid was encountered when the device was removed; vitreous and orbital cultures revealed Streptococcus pneumoniae. The patient received intravitreal, topical, intravenous, and oral antibiotics as well as intraocular tissue plasminogen activator and topical steroid. Orbital and intraocular inflammation decreased significantly but he developed a cataract, further complicated by a retinal detachment.

The Sandwich fellowship: a subspecialty training model for the developing world.

Health care systems in many developing countries are rapidly evolving to respond to urbanization and shifting epidemiological profiles, creating an environment favorable for subspecialty development. The struggle for developing nations to train and retain highly skilled clinicians within academic institutions has highlighted the need for creative approaches to subspecialty education in these regions. The "Sandwich fellowship" is an educational model in which a fellow completes rotations at an academic institution in the developed world as well as in his or her home environment. An important component of the model is the expansion of institutional capacity at the fellow's home institution to create an enabling environment to practice newly acquired skills. The fellowship provides experience in diverse geographic and cultural contexts under the guidance of a preceptor from an institution in the developed world who teaches in both settings. Preceptors are given opportunities to continue professional growth and gain from exposure to pathology not commonly seen at home. Successful pilots of a Sandwich fellowship took place in ophthalmology and orthopedic surgery at the University of Ottawa in 2007-2008 and required funding from multiple sources with bilateral institutional support. Emphasis was also placed on teaching, leadership, management, and research so the fellows could return home and lead the development of their subspecialty areas. Early contact between administrations enables the model to serve as a gateway to a long-term partnership between developed world academic establishments and developing world institutions. Such a relationship yields a mutually beneficial exchange of knowledge and skills. Beneficiaries include the hospitals, their staff, and patients at both institutions.