Asset Details
Do you wish to reserve the book?
The distinct ophthalmic phenotype of Knobloch syndrome in children
Hey, we have placed the reservation for you!
By the way, why not check out events that you can attend while you pick your title.
Oops! Something went wrong.
Looks like we were not able to place the reservation. Kindly try again later.
Are you sure you want to remove the book from the shelf?
The distinct ophthalmic phenotype of Knobloch syndrome in children
Do you wish to request the book?
The distinct ophthalmic phenotype of Knobloch syndrome in children
Please be aware that the book you have requested cannot be checked out. If you would like to checkout this book, you can reserve another copy
We have requested the book for you!
Your request is successful and it will be processed during the Library working hours. Please check the status of your request in My Requests.
Oops! Something went wrong.
Looks like we were not able to place your request. Kindly try again later.
Journal Article
The distinct ophthalmic phenotype of Knobloch syndrome in children
2012
Overview
BackgroundKnobloch syndrome is defined as a triad of occipital defect, high myopia and vitreo-retinal degeneration (often with later retinal detachment); however, the ocular phenotype is not well defined. This report characterises eye findings of the syndrome in children with genetically confirmed disease.MethodsCase series of Saudi children with previously documented homozygous mutations in COL18A1 or ADAMTS18.ResultsAll eight children (4–15 years old; five families) had smooth (cryptless) irides, high myopia (−10 to −20 dioptres) and distinctive vitreo-retinal degeneration consisting of diffuse very severe retinal pigment epithelium atrophic changes with prominent choroidal vessel show, macular atrophic lesions with or without a ‘punched out’ appearance and white fibrillar vitreous condensations. In two probands and a sibling, this distinctive retinal appearance was the basis for initial clinical diagnosis. Six children had temporal ectopia lentis and four had posterior perinuclear lens opacity. Additional features included developmental delay (two), epilepsy (one) and heterotopic grey matter in the lateral ventricles (one). Four children had no clinically discernible occipital defect.ConclusionTaken together, smooth iridies, ectopia lentis and characteristic vitreo-retinal degeneration seem pathognomonic. Although it is a defining feature of the syndrome, clinically discernible occipital defect is not a sine qua non for the diagnosis. Ophthalmologists are uniquely able to diagnose Knobloch syndrome.
Publisher
BMJ Publishing Group Ltd,BMJ Publishing Group,BMJ Publishing Group LTD
Subject
/ Atrophy
/ Biological and medical sciences
/ Child
/ Collagen Type VIII - genetics
/ Female
/ genetics
/ Humans
/ Male
/ Mutation
/ Myopia
/ Myopia, Degenerative - diagnosis
/ Myopia, Degenerative - genetics
/ Retina
/ Retinal Degeneration - diagnosis
/ Retinal Degeneration - genetics
/ Retinal Detachment - congenital
/ Retinal Detachment - genetics
