Autoantibodies have defined two paraneoplastic visual disorders related to small‐cell lung
carcinoma: retinopathy (“CAR”‐IgG [23kDa, recoverin]) and optic neuritis collapsin response …

Background Since they were first derived more than three decades ago, embryonic stem
cells have been proposed as a source of replacement cells in regenerative medicine, but …

Optic disc drusen are acellular calcific deposits occurring in small, crowded optic discs with
abnormal vasculature. Evidence suggests axoplasmic transport alteration and axonal …

Inherited retinal diseases (IRDs) are a diverse group of degenerative diseases of the retina
that can lead to significant reduction in vision and blindness. Because of the considerable …

Bardet–Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder
with the primary clinical features of obesity, pigmented retinopathy, polydactyly …

Retinal gene therapy has shown great promise in treating retinitis pigmentosa (RP), a
primary photoreceptor degeneration that leads to severe sight loss in young people. In the …

Objective Myelin oligodendrocyte glycoprotein–immunoglobulin G (MOG-IgG) associated
disorder (MOGAD) often manifests with recurrent CNS demyelinating attacks. The optimal …

Purpose Leber hereditary optic neuropathy (LHON) is a disorder characterized by severe
and rapidly progressive visual loss when caused by a mutation in the mitochondrial gene …

methods. A combination of single-strand conformation polymorphism (SSCP) and
automated DNA sequencing was used to systematically screen this gene for sequence …

Mutations in ABCA4 cause Stargardt disease and other blinding autosomal recessive retinal
disorders. However, sequencing of the complete coding sequence in patients with clinical …