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Clinical and genetic features in autosomal recessive bestrophinopathy in Chinese cohort.
BMC Ophthalmol
July 2024
Department of Ophthalmology, Xin Hua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Purpose: To provide a genotype and phenotype characterization of the BEST1 mutation in Chinese patients with autosomal recessive bestrophinopathy (ARB) through multimodal imaging and next-generation sequencing (NGS).
Methods: Seventeen patients from 17 unrelated families of Chinese origin with ARB were included in a retrospective cohort study. Phenotypic characteristics, including anterior segment features, were assessed by multimodal imaging.
Iridoschisis associated with lens subluxation.
J Cataract Refract Surg
December 2001
T.P. Agrawal Institute of Ophthalmology, Meerut, India.
The etiopathogenesis of iridoschisis is unclear, although age-related degeneration and angle-closure glaucoma are its most common associations. We report the case of a 50-year-old man with lens subluxation (familial) in 1 eye and ipsilateral iridoschisis. The inferotemporal edge of the lens was directed anteriorly, pushing the iris forward; this led to iridoschisis and shallowing of the anterior chamber.
View Article and Find Full Text PDFA family with iridoschisis, narrow anterior chamber angle, and presenile cataract.
Ophthalmic Paediatr Genet
December 1986
Familial iridoschisis is a rare ocular disease and is probably transmitted as an autosomal dominant trait. The underlying abnormalities are not understood. Family members should be screened for this condition as well as for associated ocular abnormalities, namely presenile cataracts and narrow anterior chamber angle.
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