The domestic dog serves as an excellent model to investigate the genetic basis of disease. More than 400 heritable traits analogous to human diseases have been described in dogs. To further canine medical genetics research, we established the Dog Biomedical Variant Database Consortium (DBVDC) and present a comprehensive list of functionally annotated genome variants that were identified with whole genome sequencing of 582 dogs from 126 breeds and eight wolves. The genomes used in the study have a minimum coverage of 10× and an average coverage of ~24×. In total, we identified 23 133 692 single-nucleotide variants (SNVs) and 10 048 038 short indels, including 93% undescribed variants. On average, each individual dog genome carried ∼4.1 million single-nucleotide and ~1.4 million short-indel variants with respect to the reference genome assembly. About 2% of the variants were located in coding regions of annotated genes and loci. Variant effect classification showed 247 141 SNVs and 99 562 short indels having moderate or high impact on 11 267 protein-coding genes. On average, each genome contained heterozygous loss-of-function variants in 30 potentially embryonic lethal genes and 97 genes associated with developmental disorders. More than 50 inherited disorders and traits have been unravelled using the DBVDC variant catalogue, enabling genetic testing for breeding and diagnostics. This resource of annotated variants and their corresponding genotype frequencies constitutes a highly useful tool for the identification of potential variants causative for rare inherited disorders in dogs.

https://onlinelibrary.wiley.com/doi/epdf/10.1111/age.12834

A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves.

Retinal nerve fibre layer (RNFL) photographs taken with a wide-angle fundus camera (Canon CF-60Z) and its built-in blue interference filter (SE-40) of 495 nm wavelength were compared with pictures taken with the same camera and a red-free absorption filter (Wratten No. 58) as well as with photographs taken with a 30 degrees fundus camera and Wratten No. 58 filter. Comparison showed that the best visualisation of the RNFL and its defects was achieved with the 60 degrees picture angle of the Canon camera and SE-40 filter. With a smaller picture angle (30 degrees) and a filter of longer wavelength quality of reproduction deteriorated.

Retinal nerve fibre layer photography with a wide angle fundus camera

We investigated a number of image processing techniques for enhancing the retinal nerve fiber layer (NFL) in fundus photographs taken with red-free light. Wedge-type defects within the NFL were enhanced best by contrast enhancement algorithms such as histogram modification and extremum sharpening. Narrow, slitlike NFL defects can be enhanced by directional enhancement techniques. Normal NFL features were enhanced best by high-pass filtering techniques such as homomorphic filtering and adaptive enhancement. The enhanced normal NFL may be useful in the analysis of diffuse NFL loss. All of these successful enhancements of normal and defective features indicate that enhancing fundus photographs with digital image processing techniques should facilitate early detection of optic nerve damage from glaucoma and other diseases.

Computerized enhancement of retinal nerve fiber layer.

. To evaluate the usefulness of the retinal nerve fiber layer (RNFL) appearance in estimation of optic nerve damage in MS, we examined 20 patients with definite MS and 20 normal control patients. Photographs of the RNFL in 80 eyes were classified as normal or abnormal by two examiners working independently. The results were very similar, even though the clinical data of which they were informed and their experience with RNFL-evaluation differed. We found RNFL defects in 80% of MS patients and in 73% of MS eyes. In the control group the values were 5% and 2.5%. Subclinical optic neuropathy in eyes without any history of optic neuritis was demonstrated by RNFL defects in 68%. We conclude, that in detecting clinical and subclinical optic neuropathy, RNFL-evaluation is to be recommended as the method of choice.

Retinal nerve fiber layer in multiple sclerosis.

Approximately one-third of childhood blindness is attributed to developmental eye disorders, of which 80% have a genetic cause. Eye morphogenesis is tightly regulated by a highly conserved network of transcription factors when disrupted by genetic mutations can result in severe ocular malformation. Human-induced pluripotent stem cells (hiPSCs) are an attractive tool to study early eye development as they are more physiologically relevant than animal models, can be patient-specific and their use does not elicit the ethical concerns associated with human embryonic stem cells. The generation of self-organizing hiPSC-derived optic cups is a major advancement to understanding mechanisms of ocular development and disease. Their development in vitro has been found to mirror that of the human eye and these early organoids have been used to effectively model microphthalmia caused by a VSX2 variant. hiPSC-derived optic cups, retina, and cornea organoids are powerful tools for future modeling of disease phenotypes and will enable a greater understanding of the pathophysiology of many other developmental eye disorders. These models will also provide an effective platform for identifying molecular therapeutic targets and for future clinical applications.

/pdf/the-use-of-induced-pluripotent-stem-cells-as-a-model-for-xykiq5u8ic.pdf

The Use of Induced Pluripotent Stem Cells as a Model for Developmental Eye Disorders

The diagnostic value of nerve fiber layer photography is assessed. The series comprised 39 patients with various neuro-ophthalmological diseases. Photography of the nerve fibers in the retina is time consuming and requires skill on the part of the photographer. Differences in the papillomacular nerve fiber layer are difficult to distinguish using the present methods. The wasting of nerve fibers could be documented by photography in advanced cases with bitemporal hemianopia, but not in small relative scotomas. Cases with homonymous hemianopia are interesting because lesions in the optic tract can be differentiated from affections of the second neuron on the basis of retinal nerve fiber atrophy. In demyelinating diseases inspection of the retinal nerve fiber layer is of clinical importance and diagnostic changes appear,

Photography of the nerve fiber layer in retinal disturbances.

https://escholarship.org/content/qt5rd6q428/qt5rd6q428.pdf?t=ppbuuw

Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease

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Photography of the nerve fiber layer in retinal disturbances.

Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease