Department of Biology, Faculty of Natural Sciences, Universidad del Rosario, Bogotá, Colombia.
Published: August 2020
AI Article Synopsis
Article Abstract
Background: 22q11.2 duplication syndrome (Dup22q11.2) has reduced penetrance and variable expressivity. Those affected may have intellectual disabilities, dysmorphic facial features, and ocular alterations such as ptosis, hypertelorism, nystagmus, and chorioretinal coloboma. The prevalence of this syndrome is unknown, there are only approximately 100 cases reported. However Dup22q11.2 should have a similar prevalence of DiGeorge syndrome (1 in each 4000 new-borns), in which the same chromosomal region that is duplicated in Dup22q11.2 is deleted.
Case Presentation: We report a patient with intellectual disability, psychomotor development delay, hearing loss with disyllable pronunciation only, hyperactivity, self-harm, hetero-aggressive behaviour, facial dysmorphism, left facial paralysis, post-axial polydactyly, and for the first time in patients with Dup22q11.2, optic nerve coloboma and dysplasia in optic nerve. Array comparative genomic hybridization showed a 22q11.23 duplication of 1.306 million base pairs.
Conclusions: New ocular findings in Dup22q11.2 syndrome, such as coloboma and dysplasia in the optic nerve, are reported here, contributing to the phenotypic characterization of a rarely diagnosed genetic syndrome. A complete characterization of the phenotype is necessary to increase the rate of clinical suspicion and then the genetic diagnostic. In addition, through bioinformatics analysis of the genes mapped to the 22q11.2 region, it is proposed that deregulation of the SPECC1L gene could be implicated in the development of ocular coloboma.
Introduction: Wolfram syndrome, a rare autosomal recessive disorder, is characterised by diabetes insipidus, juvenile diabetes mellitus, optic nerve atrophy and deafness (DIDMOAD).
Case Report: We present a case of a 21-year-old male diagnosed with Wolfram syndrome who underwent cochlear implantation due to progressive hearing loss. The patient first complained of bilateral hearing loss at the age of 8 years.
John P. Hussman Institute for Human Genomics, University of Miami, FL; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, FL.
Purpose: To demonstrate the response of a juxtapapillary retinal hemangioblastoma (JRH) to belzutifan in a patient with Von-Hippel-Lindau syndrome (VHL).
Methods: This case report includes fundus photography and optical coherence tomography to compare a juxtapapillary retinal hemangioblastoma (JRH) before and 24 months after treatment with belzutifan.
Results: An 18-year-old woman with VHL was diagnosed with a juxtapapillary retinal hemangioblastoma (JRH) at age 13.
Background: The new optic neuritis (ON) classification leads to a change in how ON patients are grouped. Our aim is to appraise the clinical features and prognoses of patients with autoimmune ON not associated with MS.
Methods: Patients referred to our neuro-ophthalmology laboratory were enrolled to this retrospective study.
Purpose: To analyze patients with optic disc drusen (ODD), with emphasis on modern diagnostics.
Materials And Methods: Research of the literature was conducted, together with a retrospective statistical analysis of patients with ODD. The group included individuals with ODD diagnosed using at least one of the following (ultrasound - USG, optical coherence tomography - OCT, fundus autofluorescence - FAF).
