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Anterior Segment OCT Image of Vitreous Hernia.
Ophthalmology
January 2025
Eye Center of the Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang Province, China; Zhejiang Provincial Key Lab of Ophthalmology, Hangzhou, Zhejiang Province, China.
Intraoperative discovery of lens dislocation in a child with Knobloch syndrome.
J AAPOS
August 2023
Medical University of South Carolina, Charleston, South Carolina. Electronic address:
We present the case of a 14-year-old boy with a known diagnosis of Knobloch syndrome (KS) referred for bilateral cataract evaluation and possible cataract surgery. At time of initial presentation, no lens subluxation was appreciated, and no phacodonesis was detected on slit lamp biomicroscopy. However, 7-weeks later, on the day of surgery, his right eye was found to have a complete lens dislocation into the vitreous cavity, with no zonule attachment.
View Article and Find Full Text PDFKnobloch syndrome - a rare collagenopathy, revealing peripheral avascular retina.
Ophthalmic Genet
December 2023
Department of Pediatric Retina and Ocular Oncology, Aravind Eye Hospital, Coimbatore, India.
Introduction: Pediatric rhegmatogenous retinal detachments, especially those presenting at birth or soon afterward, have a high likelihood of syndromic associations that can be confirmed by genetic testing.
Materials And Methods: A 5-month-old child was found to have high myopia in the right eye (RE) with highly tessellated fundus, opalescent vitreous, and peripheral thinning. Left eye had a shallow retinal detachment for which he underwent belt buckling.
[Knobloch syndrome on multimodal imaging: a case report].
Zhonghua Yan Ke Za Zhi
December 2022
Chongqing Aier Eye Hospital, Chongqing 401531, China.
A 12-year-old boy presented to the hospital because of poor vision for half a year. Examination revealed nystagmus in both eyes. Examination of the anterior segment of both eyes showed no obvious abnormalities, and the vitreous bodies of both eyes were concentrated and agglutinated.
View Article and Find Full Text PDFWhole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis.
Ophthalmic Genet
April 2022
Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Background: To establish the molecular diagnosis in two brothers presenting with the ocular features of Knobloch Syndrome using whole genome sequencing (WGS).
Methods: Clinical examination and ophthalmological phenotyping were completed under general anaesthesia. DNA samples were tested on a targeted retinal dystrophy next-generation sequencing panel.
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