Homozygous missense variant in causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation.

Biallelic pathogenic variants in cause a fatal autosomal recessive multisystem disorder characterized by recurrent autoinflammation, hypomyelination, progressive neurodegeneration, microcephaly, failure to thrive, liver dysfunction, respiratory chain defects and accumulation of glycogen in skeletal muscle. No missense variants in have been reported to date.We report a 6-year-old boy with microcephaly, global developmental delays, lower limb spasticity with hyperreflexia, epilepsy, abnormal brain MRI, failure to thrive, recurrent fevers and transaminitis.

Design concepts for advanced-technology intraocular lenses [Invited].

An intraocular lens (IOL) replaces the natural crystalline lens during cataract surgery, and although the vast majority of implants have simple optics, "advanced technology" IOLs have multifocal and extended depth of focus (EDOF) properties. Optical concepts are evaluated here, with image contrast, focal range, and unwanted visual phenomena being the primary concerns. Visual phenomena with earlier bifocal diffractive lenses led to alternative diffractive designs (trifocals, etc.

Child Neurology: Severe -Related Congenital Muscular Dystrophy With Rapidly Progressive Encephalopathy Leading to Infantile Death.

Pathogenic variants in cause congenital muscular dystrophy through hypoglycosylation of alpha-dystroglycan (OMIM #615350). The established phenotypic spectrum of GMPPB-related disorders includes recurrent rhabdomyolysis, limb-girdle muscular dystrophy, neuromuscular transmission abnormalities, and congenital muscular dystrophy with variable brain and eye anomalies. We report a 9-month-old male infant with congenital muscular dystrophy, infantile spasms, and compound heterozygous pathogenic variants (c.

Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.

Introduction: Structural variants (SVs) of the nebulin gene (), including intragenic duplications, deletions, and copy number variation of the triplicate region, are an established cause of recessively inherited nemaline myopathies and related neuromuscular disorders. Large deletions have been shown to cause dominantly inherited distal myopathies. Here we provide an overview of 35 families with muscle disorders caused by such SVs in .

Ocular Manifestations of IBD: Pathophysiology, Epidemiology, and Iatrogenic Associations of Emerging Treatment Strategies.

Inflammatory bowel disease (IBD) is a complex, multisystemic disease and is associated with ocular pathology in 4-12% of patients. In general, ocular disease affects Crohn's patients more frequently than those with ulcerative colitis. Episcleritis and uveitis are the most common presentations, with episcleritis often correlating with IBD flares, whereas uveitis presents independently of IBD activity and, in some cases, may even alert clinicians to a new diagnosis of IBD.