Mutations in have been associated with the rare adult i blood group phenotype with or without congenital cataract. We report a novel homozygous frameshift mutation c.1163_1166delATCA, p.(Asn388Argfs*20) as the cause of congenital cataract in two affected siblings. Blood group typing confirmed that both affected males have the rare adult i phenotype, supporting the hypothesis that the partial association of I/i phenotype and congenital cataract is due to the differential expression of isoforms.
Myotonia congenita, both in a dominant (Thomsen disease) and recessive form (Becker disease), is caused by molecular defects in that encodes the major skeletal muscle chloride channel, ClC-1. This channel is important for the normal repolarization of muscle action potentials and consequent relaxation of the muscle, and its dysfunction leads to impaired muscle relaxation after voluntary or evoked contraction and muscle stiffness. More than 300 pathogenic variants have been found in association with congenital myotonia, inherited as recessive or dominant traits (with complete or incomplete penetrance).
Aim: To establish an animal model of form deprivation amblyopia based on a simulated cataract intraocular lens (IOLs).
Methods: Poly(dimethyl siloxane)-SiO thin films (PSF) with different degrees of opacity as IOL materials were prepared. The light transmission of the PSF-IOL was measured, and its biosafety was determined by cell counting kit (CCK)-8 assay using the HLEC-B3 cell line and ARPE-19 cell line.
Background: Oculocutaneous albinism is a rare autosomal recessive disorder caused by congenital melanin deficiency, resulting in hypopigmentation of the eyes, hair, and skin. This study included a Chinese family with an oculocutaneous albinism pedigree, in which the proband presented with oculocutaneous albinismcombined with secondary angle closure, which has been rarely reported in previous literature. This article primarily focused on the clinical and genetic examination results of this patient and provided recommendations for ophthalmologist to treat patients with oculocutaneous albinism in clinical practice.
Background: To compare the effectiveness of a brief binocular vision screening protocol to a comprehensive examination for detecting binocular vision anomalies before and after cataract surgery.
Methods: A comprehensive binocular vision test battery as a gold standard were administered on recruited patients before the first surgery and at the third visit after surgery on the second eye. A receiver operating characteristic (ROC) curve was plotted to illustrate the diagnostic ability of each test.
A review highlights various disease-causing variants of the gene PIKFYVE found in ocular tissues and their associated eye conditions, filling a gap in existing research.
PIKFYVE is important for regulating cellular functions like autophagy and phagocytosis, and variants in this gene are linked to conditions like corneal fleck dystrophy and congenital cataracts.
The study aims to establish possible connections between specific genetic variants and the eye disorders they cause, which could help improve future diagnosis and treatment of PIKFYVE-related ocular diseases.
