Hereditary Retinal Disease-Related Retinal Detachment; Risk Factors, Pathogenesis, Clinic, and Management

Hereditary retinal disease (HRD) is a group of pathologies characterized by histologically abnormally developing vitreous gel associated with peripheral retinal degenerative or proliferative changes. In HRD alterations in the structure of the vitreous with abnormal vitreoretinal adhesions can predispose to developing Retinal Detachment (RD). Many HRD is seen with a part of syndromes most of which have systemic abnormalities affecting the joints, skeletal system, and cardiovascular system. Due to delayed diagnosis in younger age patients, without prominent symptoms, most patients with HR presented with proliferative vitreoretinopathy PVR and macula-involving RD.

Clinically-guided mutation screening of two families with hereditary retinal disease

Hereditary retinal disease (HRD) is a series of Mendelian diseases affecting the retina in the eye. The genetic basis of HRD is very complicated, with more than 100 disease-causing genes being identified. Though NGS has allowed rapid and large-scale mutation screening of Mendelian disease, the cost of NGS still prevents its universal application all over the world, for an accurate molecular diagnosis. Here, by clinical guidance from patient phenotypes, we performed targeted molecular diagnosis by direct Sanger sequencing of the most likely candidate gene in two families diagnosed with HRD. Then we identified two novel protein-truncating variants in the gene CRB1. Our results demonstrated the notion that molecular diagnosis and clinical diagnosis can be mutually supplemented and clinically guided direct sequencing is a cost-effective approach for molecular diagnosis and subsequent genetic counseling.

Pharmacological studies of the mouse cone electroretinogram

Electroretinography provides a useful noninvasive approach to evaluate cone pathway activity. Despite wide application of the cone ERG to characterize retinal function in transgenic mice and mouse models of human hereditary retinal disease, the cellular origins of the mouse cone ERG have not been well defined. Here, we address this issue using a pharmacological approach that has been previously applied to other species. Agents that block receptor activation at well-defined retinal loci were dissolved in saline and injected into the vitreous of anesthetized adult BALBc/ByJ mice; cone ERGs were recorded 1–2 h later. Analysis of the resulting waveforms indicated that the mouse cone ERG includes a cornea-negative component that is derived from the activity of cone photoreceptors and retinal glial (Müller) cells. Similar to other species, activity of cone depolarizing bipolar cells contributes a large amplitude cornea-positive potential to the mouse cone ERG. In contrast to primate but similar to rat, the mouse cone ERG includes only a small contribution from hyperpolarizing bipolar cell activity. The inner retina appears to contribute to both thea- andb-waves of the mouse cone ERG. These results provide a foundation for interpreting changes in the waveform of the mouse cone ERG that may be observed following genetic alteration or other experimental treatment.