Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan

Peripherin-2 (PRPH2) is one of the causative genes of inherited retinal dystrophy. While the gene is relatively common in Caucasians, reports from Asian ethnicities are limited. In the present study, we report 40 Japanese patients from 30 families with PRPH2-associated retinal dystrophy. We identified 17 distinct pathogenic or likely pathogenic variants using next-generation sequencing. Variants p.R142W and p.V200E were relatively common in the cohort. The age of onset was generally in the 40’s; however, some patients had earlier onset (age: 5 years). Visual acuity of the patients ranged from hand motion to 1.5 (Snellen equivalent 20/13). The patients showed variable phenotypes such as retinitis pigmentosa, cone-rod dystrophy, and macular dystrophy. Additionally, intrafamilial phenotypic variability was observed. Choroidal neovascularization was observed in three eyes of two patients with retinitis pigmentosa. The results demonstrate the genotypic and phenotypic variations of the disease in the Asian cohort

Corneal Elasticity as a Measure of Intra-ocular Pressure : A Controlled Clinical Examination

PURPOSE: To determine the clinical efficacy of corneal elasticity (CE) measurements as an index of intra-ocular pressure(IOP). The considerable body of evidence linking elevated intra-ocular pressure (IOP) to glaucomatous conditions, points to the importance of the accurate and reliable measurement of IOP for diagnosis, prevention and post treatment assessements. Recently an applanation resonator sensor (ARS) for measuring IOP via CE has been proposed as an alternative to the extant Goldmann applanation tonometry (GAT). The present study examines the validity of the measure as an index of IOP in glaucomatous patients.METHODS: A structured sample of glaucomatous patients and orthogonally matched normal control subjects were assessed by the GAT and ARS methods in the research and outpatient treatment laboratory of the university Ophthalmology Department. The patient sample consisted of individuals with IOP of 16mmHg and above and with evidence of clinically significant optic nerve damage.RESULTS: Significant correlations between GAT-IOP and ARS frequency shifts (Δfs) for both clinical (r=.88, p<.001, n=16) and normal subjects (r=.60, p<.01, n=16) were obtained.CONCLUSIONS: The results suggest that ARS could be a clinical alternative to the extant GAT method in assessing IOP. In order to further examine the clinical efficacy of ARS-Δfs as an accurate index of IOP, tests of a significant correlation between ARS-Δfs and manometrically established vitreous IOP are now needed in normal and glaucomatous subjects

A Case of Adult T-Cell Leukemia/ Lymphoma with Extraocular Muscle Infiltration (.pdf)

To report a case of Adult T-cell leukemia/ lymphoma (ATLL) with confirmed infiltration into the extraocular muscles

A Case Of Abducens Nerve Palsy Followed By Cyclic Esotropia

"Cyclic esotropia is a rare acquired disorder in which days with esotropia and orthotropia alternate. We encountered a patient with abducens nerve palsy caused by a clival tumor who developed cyclic esotropia during follow-up without treatment.

A Case Of Horner's Syndrome After Clipping Of The Internal Carotid-Posterior Cerebral Artery Aneurysm Associated With Subarachnoid Hemorrhage

"Internal carotid-posterior cerebral artery (IC-PC) aneurysm is a cause of parasympathetic nerve paresis of the pupil. We have experienced a case of sympathetic nerve paresis of the pupil after clipping of IC-PC aneurysm associated with subarachnoid hemorrhage. We will report the case and discuss the mechanism.