GWAS Hits for Bilateral Convergent Strabismus with Exophthalmos in Holstein Cattle Using Imputed Sequence Level Genotypes

Bilateral convergent strabismus with exophthalmos (BCSE) is a malformation of the eyes and is recognized as a mild but progressive disorder that affects cattle in the first two years of life. This most likely inherited disorder is rarely described in cattle resembling autosomal dominantly inherited forms of human progressive external ophthalmoplegia (PEO). In German Braunvieh cattle, two linked genome regions were found that could be responsible for the development and/or progression of BCSE. The goal of this study was to phenotypically characterize BCSE in Holstein cattle from Germany and Switzerland as well as to identify associated genome regions by GWAS. The clinicopathological phenotype of 52 BCSE-affected Holstein cattle was in accordance with the phenotype described in German Braunvieh cattle, but in addition, signs of degeneration and cellular infiltration in the eye muscles were found. By using imputed sequence level genotype data, three genome-wide significant GWAS hits were revealed on different chromosomes that were not detected by initial GWAS based on high density SNP array data highlighting the usefulness of this approach for mapping studies. The associated genome regions include the ABCC4 gene as well as markers adjacent to the NCOR2 and DNAJC3 genes all illustrating possible functional candidate genes. Our results challenge a monogenic mode of inheritance and indicate a more complex inheritance of BCSE in Holstein cattle. Furthermore, in comparison to previous results from German Braunvieh cattle, it illustrates an obvious genetic heterogeneity causing BSCE in cattle. Subsequent whole genome sequencing (WGS)-based analyses might elucidate pathogenic variants in the future.

Tuberculous Meningitis - An Entity Not to Forget

A 27-month-old child was admitted with fever, anorexia, convergent strabismus and irritability. Cerebrospinal fluid was suggestive of tuberculous meningitis.

Bony Orbital Decompression in Patients with High Myopia and Pseudoexophthalmos

Introduction High myopic eyes grow in length (> 0.35 mm/dpt) more than in height and width leading to a disturbing unilateral exophthalmos in patients with anisomyopia and – more rarely – a bilateral exophthalmos in high myopia affecting both eyes. Secondary consequences are sicca symptoms and painful eye mobility due to a large bulbus in a too small bony orbit. The aim of the work was to evaluate the effectiveness of bony orbital compression in cases of high myopia. Material and Methods Four patients underwent bony orbital decompression between the years 2012 and 2019. Two of the patients received lateral and two of them balanced (medial endonasal endoscopic and lateral) decompression. The decompression effect, complications and the influence of decompression on eye position and motility were evaluated. Results Significant decompression effect was achieved in all patients. As a result, symmetry was restored in all unilaterally affected patients. No complications occurred. The lateral decompression had a positive effect on the preexisting convergent strabismus (reduction of the “eso” position, neutral to the vertical deviation). The carefully dosed medial decompression did not lead to any change of the horizontal position in one patient and in the other exotropic patient it resulted in a 10 pdpt of “exo” reduction without developing an “eso” position. Discussion The bony orbital decompression provides a sufficient decompression effect in the four patients to reduce the myopic pseudoexophthalmos. The alignment anomalies associated with a high myopia (“heavy eye”) was favourably influenced by the lateral decompression.

BILATERAL ABDUCENS NERVE PALSY SECUNDARY TO INTRACRANIAL SINUSES THROMBOSIS IN A CHILD WITH NEPHROTIC SYNDROM – CASE REPORT

We report a case of a child with nephrotic syndrome (NS), who presented an acute convergent strabismus, double vision and papilledema one week after a history of badly treated sinusitis. The image study revealed an extensive thrombosis of the intracranial sinuses that was treated with intravenous heparin and oral corticosteroids. Four months later, the case evolved with spontaneous resolution of the ocular deviation and no diplopia.