Novel and recurrent variants in PAX6 in four patients with ocular phenotypes from Southeast Asia
Sign Up to like & getrecommendations! Published in 2024 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000487
Abstract: Aniridia is an autosomal dominant condition characterized by the complete or partial absence of the iris, often with additional presentations such as foveal hypoplasia, nystagmus, cataract, glaucoma and other ocular abnormalities. Most cases are caused… read more here.
Keywords: four patients; recurrent variants; novel recurrent; ocular phenotypes ... See more keywords
Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia
Sign Up to like & getrecommendations! Published in 2020 at "Clinical Genetics"
DOI: 10.1111/cge.13897
Abstract: Complex microphthalmia is characterized by small eyes with additional abnormalities that may include anterior segment dysgenesis. While many genes are known, a genetic cause is identified in only 4–30% of microphthalmia, with the lowest rate… read more here.
Keywords: dominant variants; microphthalmia; variants prr12; prr12 result ... See more keywords
An ontological foundation for ocular phenotypes and rare eye diseases
Sign Up to like & getrecommendations! Published in 2019 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-018-0980-6
Abstract: BackgroundThe optical accessibility of the eye and technological advances in ophthalmic diagnostics have put ophthalmology at the forefront of data-driven medicine. The focus of this study is rare eye disorders, a group of conditions whose… read more here.
Keywords: ontology; ophthalmology; disease; rare eye ... See more keywords