ABCA4 is a member of the superfamily of ATP-binding cassette (ABC) transporters that is
preferentially localized along the rim region of rod and cone photoreceptor outer segment …

CRISPR/Cas, an adaptive immune system in bacteria, has been adopted as an efficient and
precise tool for site-specific gene editing with potential therapeutic opportunities. It has been …

Mutations in the EYS gene are one of the major causes of autosomal recessive retinitis
pigmentosa. EYS-retinopathy presents a severe clinical phenotype, and patients currently …

Nowadays, Artificial Intelligence (AI) and its subfields, Machine Learning (ML) and Deep
Learning (DL), are used for a variety of medical applications. It can help clinicians track the …

Blindness arising from retinal or macular degeneration results in significant social, health
and economic burden. While approved treatments exist for neovascular ('wet') age-related …

Inherited retinal diseases encompass a highly heterogenous group of disorders caused by a
wide range of genetic variants and with diverse clinical symptoms that converge in the …

Objective To develop a few-shot learning (FSL) approach for classifying optical coherence
tomography (OCT) images in patients with inherited retinal disorders (IRDs). Methods In this …

Inherited retinal diseases constitute a rare and heterogeneous group of eye disorders
affecting more than four million people worldwide, characterised by progressive dysfunction …

Most inherited retinal diseases (IRDs) are caused by mutations in genes expressed in light-
sensitive photoreceptors. In some cases, photoreceptors are lost due to mutations in genes …

Inherited retinal diseases are the leading cause of visual impairment among the working
age-group in the developed countries. To date over 300 genes (https://web. sph. uth …