New Evidence on BEST1 Genetic Variant Identified in a Patient with Best Vitelliform Macular Dystrophy Phenotype

Best Disease (BD), also known as Best Vitelliform Macular Dystrophy (BVMD), represents an inherited autosomal dominant macular dystrophy with a juvenile age of onset [1]. It is a phenotypically heterogeneous, bilateral condition that affects the retina and Retinal Pigment Epithelium (RPE) caused by pathogenic variants in the BEST1 gene located on chromosome 11q12-13 [2,3]. Typical fundus findings in BD are egg yolk-like, round or oval, lesions seen in the macula, and affected eyes may demonstrate various clinical stages, ranging from the previtelliform stage to Choroidal Neovascularization (CNV) [4]. The macular appearance in all stages is deceptive, as most patients maintain relatively good visual acuity throughout the course of the disease. Patients commonly experience visual compromise in early adulthood, although the age of onset can range from childhood to late adulthood [3] and most patients with BD maintain good vision in at least one eye. The presence of subretinal fluid or CNV has been associated with a poorer visual prognosis [4]. In this case report, we describe a patient with clinical features suggestive of Best disease. We discuss the differential diagnosis and we present the multimodal imaging of the retina used for both the diagnosis and follow up. We also report a genetic study that demonstrates more evidence on a novel genetic variant in the BEST1 gene. The same genetic mutation has been recently reported as a novel variant in a single patient with BVMD [5].

Evaluation of Visual Disability with Digital Systems

Background: Vision loss is a major health issue and people with visual impairments are at higher risk for visually related complaints, as poor postural control, accompanying fear of moving and higher risk for falls compared to people with normal vision. Consequently, it is important to develop and improve treatment and prevention programs aimed at reducing these problems. In this endeavour, high quality screening instruments are a prerequisite for successful research and clinical practice. Scope: The aim of this study is to verify the validity level of a new system for assessing the degree of visual disability that provides a numerical score, resulting from a combined assessment of both the Visual Field (VF) and Visual Acuity (VA) loss, obtained using a digital technology visor. Methods: To verify if the assessments of the visual impairment coefficient carried out through the two different systems produce homogeneous results, a comparison between results obtained on a group of sixty-five subjects who were visually impaired or had fragile vision was performed. Results: A great level of inhomogeneities in the evaluation of visual disability coefficient, obtained through the digital system, which provides for the combined evaluation of the visual field and visual acuity, and the conventional one, which involves the separate evaluation of the two parameters, was found. Conclusions: These results confirm therefore that the discrepancies found in the assessment of the disability level obtained through two different systems is not due to the different tools used, but to the different evaluation systems. The evaluation system carried out using the new digital visor, which provides for the combined evaluation of the VF and VA, constitutes a method to ensure a more homogeneous and reliable visual disability assessment compared to those carried out with traditional systems.

External Beam Radiation Therapy for Metastatic Tumor to the Iris: A Case Report and Brief Literature Review

Tumor metastases involving the iris are rare and represent about 3% of metastases to the uveal tract. The typical presentation is a patient with a known history of carcinoma who develops blurry vision, ocular pain, and/or eye redness, which may be erroneously diagnosed as uveitis. In this case, we report the workup, diagnosis, and treatment of a 76 year old man with a history of node negative multi-focal adenocarcinoma of the lung who was found to have a left iris metastasis. He presented with blurry vision and left eye pain. Exam revealed a 7 x 7 mm amelanotic ciliary body mass, which was ultimately biopsied and found to be consistent with his lung primary. He was treated with external beam radiation therapy, 3000cGy in 10 fractions, to the left globe. His three and nine-month follow up MRIs showed good treatment response and he is clinically without disease progression. EBRT is a safe and effective modality for the treatment of iris metastases.

Subthreshold Yellow Wavelength Micropulse Laser Photostimulation Treatment in a Patient with Suspected Polypoidal Choroidal Vasculopathy

Purpose: The aim is to discuss the efficacy of micropulse laser treatment in a patient suspected of polypoidal choroidal vasculopathy. Case Presentation: A 61-year-old male patient presented with decreased vision in his left eye. He had a dome-shaped lesion below the macula and macular swelling in the fundus examination. Optical Coherence Tomography (OCT) showed neurosensorial serous detachment of the macula and polypoid appearance in the region consistent with the dome-shaped lesion. The patient was recommended Flourescein Angiography (FA), indocyanine green angiography (ICGA), but for economic reasons he refused to perform ICGA. After that, only FA was performed. As a result of the examinations, it was evaluated as central serous chorioretinopathy by a retina specialist. Three months later, because of subretinal fluid persistence, micropulse laser treatment including polyp-like lesion was applied. Results: At the 6th month follow-up, it was found that the fluid completely regressed and the Pigment Epithelial Detachment (PED) appearance occurred in place of the polypoidal appearance in OCT. In the 22nd month, subretinal fluid disappeared completely and PED appearance was observed. Conclusions: Although the characteristics of OCT of this case is similar to the OCT appearance in PCV, it would be more reasonable to consider this case as CSC in the light of current information, as this case responded to MPL treatment. Therefore, prospective studies with large groups are needed.

Not So Benign: A Rare Atypical Ectopic Choroid Plexus Papilloma

Choroid Plexus Papillomas (CPPs) are rare neoplasms (0.4-0.6 % of all brain tumors) arising from cuboidal epithelial cells of the choroid plexus. Atypical choroid plexus papillomas are even more rare and characterized by aggressive features of increased mitotic activity and frequent metastases even at diagnosis. Atypical choroid plexus papillomas accounted for 9% of choroid plexus tumors in the Surveillance Epidemiology and End Results (SEER) Database from 1978 to 2009. We describe a 56 year-old woman with a rare atypical choroid plexus papilloma ectopically located in the cerebellopontine angle and mistaken for a vestibular schwannoma or glossopharyngeal schwannoma. She demonstrated leptomeningeal seeding involving multiple cranial nerves and spinal cord. Besides papilledema she developed several neuro-ophthalmic features slowly over time from involvement of cranial nerves and subsequent intraparenchymal spread and radiation necrosis in the brainstem. Besides being rare, the cerebellopontine angle location of this tumor is also extremely uncommon making this a very unique case.

Visual Acuity and Age of Symptom Onset in a Large Chinese Cohort of Patients with Stargardt Disease

Stargardt disease is the most common form of juvenile-onset inherited macular dystrophy, with high phenotypic heterogeneity. There are limited data documenting the characteristics of Best Corrected Visual Acuity (BCVA) and age of symptom onset of patients with Stargardt disease in Chinese population. In this study, 169 patients with clinical and genetic diagnosis of Stargardt disease were recruited. BCVA, age, age of symptom onset, disease duration time and genetic information were collected and analyzed. We found that the average BCVA was 1.16±0.61 logMAR, 63.6% of patients with severe visual impairment (≤1 logMAR); the mean age of symptom onset was 13.63±12.72 years (yrs) old, 61.36% of patients had an onset earlier than 12; BCVA level was associated with genotype and disease duration, but had no direct correlation with neither age of symptom onset nor age; severe genotype (≥2 severe variants, severe variants were defined as those predicted to introduce a premature truncating codon in the protein or to affect splicing) was also associated with earlier age of symptom onset. Our data will serve as a well-founded reference for genetic counseling and better management of these patients.

Work-Based Learning (WBL) Model to Develop Self-Directed Learners in Optometry Education - An Evaluation

Purpose: This paper evaluated the effectiveness of work-based learning (WBL) model to develop self-directed learning skills in optometry education. Methods: ‘WBL cohort 1’ in Academic year (AY) 1819S1 (n = 20) and ‘WBL cohort 2’ in AY1920S1 (n = 65) were studied and compared with a ‘traditional cohort’ (n = 42). The following were investigated: (i) Student Survey (SS); (ii) Focus Group Interview (FGI); (iii) adjunct lecturer survey and (iv) Final Module Score (FMS) in four core modules. Results: Through SS, >60% reported that WBL enabled them to be selfdirected learners and >80% felt that it helped to develop useful optometry skills and knowledge. Through FGI, 83% of the ‘WBL cohort 1’ and 54% of the ‘WBL cohort 2’ reported that it trained them to be self-directed learners. More than 60% of the adjunct lecturers surveyed reported that students who underwent the WBL model had exhibited good interpersonal skills, critical thinking and good traits of an independent optometrist. However, these were not as clearly evident when the cohort size was increased. Based on academic performance (with FMS as an indicator), WBL produced variable results in the four core modules surveyed, with WBL cohorts 1 and 2 performing differently. Conclusion: WBL model was able to develop self-directed learners and professional dispositions as well as generic employability skills. To scale WBL for larger cohorts, considerations must be given to faculty and resource availability, which it demands.

Ciliary Ganglioplegic Migraine Associated with SACS Mutation

Migraine patients often complain of repeated attacks of monocular visual disturbance including scintillations, scotomas, blindness and pupillary dysfunction. Temporary pupillary enlargement of the ipsilateral side during migraine attack, although rarely reported, is referred to as an Adie’s-like tonic pupil [1]. Adie’s tonic pupil is caused by denervation of the postganglionic parasympathetic pupillary nerves, with light-near dissociation, and cholinergic supersensitivity. Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is characterized by early-onset spastic ataxia, peripheral sensorimotor neuropathy, and pyramidal symptoms. ARSACS is caused by mutations in the SACS gene, which encodes the Sacsin expressed in various tissues including brain motor systems. Sacsin is believed to integrate the ubiquitin-proteasome system and Hsp70 chaperone machinery, which are important components of the cellular response associated with neurodegenerative diseases [2]. Here, we describe a patient suffering from chronic migraine without aura who developed cerebellar ataxia and unilateral mydriasis during acute migraine persisted after resolved headache. Presence of a SACS gene mutation is an expansion of the clinical phenotype associated with SACS mutations to ciliary ganglioplegic migraine. A 47-year-old female who suffers from long standing headache developed unsteady gait and poor coordination. With a diagnosis of migraine without aura based on the third edition of the International Classification of Headache Disorders (ICHD-III) criteria, she was prescribed preventive medicine with topiramate and onabotulinumtoxinA injection on occasion. Physical examination revealed a dilated pupil in the left eye without reflexive constriction to light or accommodation which persisted after resolution of migraine. Except for anisocoria, no other abnormal findings were identified. Remarkable reduction of the left pupil size was observed in response to 0.125% pilocarpine (Figure 1). The patient also showed mild nonataxic spastic paraplegia but without distal weakness or pyramidal signs. A family history of migraine headache and other neurological disorders was denied. Nerve conduction studies confirmed the mixed demyelinating and axonal character of polyneuropathy. Brain MRI with angiography did not reveal any abnormalities.