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Autosomal Dominant Myopia Type 15

Autosomal Dominant Myopia 15


Presentation

  • In addition to As with the first edition, our goal is to present a updating and revising the entire book, we have added comprehensive textbook of pediatric ophthalmology three new chapters: Chapter 7 on electrophysiology and strabismus written in a clear[books.google.com]
  • Representative results presented in our study were from the worse eye of each subject.[bmcophthalmol.biomedcentral.com]
  • Patients present with varying degrees of hyperelastic skin, joint hypermobility, and tissue fragility (including that of vasculature).[amboss.com]
  • A number of other conditions and syndromes may present with infantile glaucoma, along with other ocular and/or systemic findings.[centogene.com]
  • There is a high relative prevalence of giant retinal tears and bilateral retinal detachment, total retinal detachment, macula-off retinal detachment, and proliferative vitreoretinopathy, which can commonly present on initial presentation ( 43 ).[entokey.com]
Long Arm
  • Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, chromosome 12q13.11 refers to band 13.11 on the long arm of chromosome 12.[rarediseases.org]
  • arm of chromosome 17.[bmcgenet.biomedcentral.com]
  • New locus for autosomal dominant high myopia maps to the long arm of chromosome 17. Invest Ophthalmol Vis Sci. 2003; 44:1830-6. [PMID: 12714612] Pararajasegaram R. VISION 2020-the right to sight: from strategies to action.[molvis.org]
  • . • Long arms, legs, fingers, and toes and flexible joints. • A spine that curves to one side. This condition is called scoliosis. • A chest that sinks in or sticks out.[slideshare.net]
Aniridia
  • Associated syndromes include Aniridia (autosomal dominant) and anterior segment dysgenesis syndromes (both are autosomal dominant).[centogene.com]
  • XLD, AR COL4A5, COL4A4, COL4A3 #301050, #203780 ALSTROM SYNDROME Cone-rod dystrophy, photophobia, nystagmus, cataracts AR ALMS1 #203800 ANGELMAN SYNDROME Refractive errors, strabismus, ocular hypopigmentation Isolated cases UBE3A, CDKL5, MECP2 #105830 ANIRIDIA[eyewiki.aao.org]
  • Other examples of haploinsufficiency include PAX6 gene on 11p causing aniridia type II / WAGR syndrome ; PTEN gene on 10q23 Cowden Disease and several cancers; SHOX (short stature homeobox containing gene) causing short stature as a dominant phenotype[dorak.info]
  • Dystrophy 21 2 Cone-Rod Dystrophy 3 4 Cone-Rod Dystrophy 5 5 Cone-Rod Dystrophy 6 5 Cone-Rod Dystrophy 7 3 Cone-Rod Dystrophy 9 3 Cone-Rod Dystrophy X-Linked 3 4 Cone-Rod Dystrophy, X-Linked, 1 4 Congenital Amegakaryocytic Thrombocytopenia 4 Congenital Aniridia[preventiongenetics.com]
Vision Disorder
  • More profoundly, it can alter downstream expression of many genes, including genes causing severe Mendelian vision disorders [ 17 ].[bmcgenet.biomedcentral.com]
  • A comprehensive literature search was conducted in PubMed and web of science covering publications up to December 2, 2017 by two independent authors, using the following key words (“myopia” OR “refractive error” OR “vision disorder”) AND (“prevalence”[bmcophthalmol.biomedcentral.com]
Retinal Hemorrhage
  • . • These typically occur with a streak of retinal hemorrhage that is not associated with any underlying choroidal neovascularization. 58.[slideshare.net]
Seizure
  • Plus, Type 1 5 Generalized Epilepsy With Febrile Seizures Plus, Type 2 3 Generalized Epilepsy With Febrile Seizures Plus, Type 3 5 Generalized Epilepsy With Febrile Seizures Plus, Type 7 5 Generalized Epilepsy with Febrile Seizures Plus, Type 9 3 Genitopatellar[preventiongenetics.com]
  • , combined cerebellar and peripheral, with hearing loss and diabetes mellitus (ACPHD) 616192 0 0 DNAJC3 - - 03207 AHUS-5 hemolytic-uremic syndrome, atypical, type 5 (AHUS-5) 612925 0 0 C3 - - 04004 AMRS arthrogryposis, mental retardation, and seizures[databases.lovd.nl]

Treatment

  • Duration of treatment. According to Prof.[aao.org]
  • How long have you searched for a myopia treatment and why? Francke: Our task group has worked on this new treatment for progressive myopia since 2009.[medica-tradefair.com]
  • Currently, there is no definitive treatment modality available for Diffuse Choroidal Atrophy Symptomatic treatment to address the signs and symptoms may be employed by the healthcare provider Rehabilitation, vocational, or occupational therapy may be[dovemed.com]
  • There are no proven treatments that halt the progressive enlargement of the eyeball and the only treatment of myopia known to correct vision is with the use of proper corrective lenses.[disorders.eyes.arizona.edu]
  • Log In or Register to continue Oct 2, 2016 Posted by in OPHTHALMOLOGY Comments Off on 51 Treatment of High Myopia[entokey.com]

Prognosis

  • (Outcomes/Resolutions) The prognosis of Diffuse Choroidal Atrophy is poor and the condition invariably leads to complete vision loss.[dovemed.com]
  • Diagnosis and Prognosis: The diagnosis of myopia is made by an eye professional.[disorders.eyes.arizona.edu]
  • Treatment Prognosis References: [10] [13] [14] [15] [3] [#8376}[amboss.com]
  • Combined with our longitudinal study results on visual prognosis in highly myopic eyes, 6.0% (0.378   0.16) of eyes will suffer from blindness, and 19.7% (0.378   0.52) will suffer from low vision within 10 years.[nature.com]
  • . • Pathologic myopia • Highly myopic refractive error is present from early childhood and is progressive. prognosis is poor with legal blindness 19. • Other Myopias • Night Myopia • The phenomenon of increased myopia under low luminance conditions was[slideshare.net]

Etiology

  • Etiology Marfan syndrome Mutation of fibrillin-1 gene (FBN1) on chromosome 15 defective connective tissue microfibrils defective elastin Autosomal dominant inheritance pattern with variable penetrance Ehlers-Danlos syndrome Various mutations in genes[amboss.com]
  • Because most cases of myopia have a benign etiology and course, the importance of this disorder as a predisposing factor for serious retinal pathology is often overlooked.[link.springer.com]
  • (Etiology) Diffuse Choroidal Atrophy is a congenital disorder that is inherited in an autosomal dominant manner It is classified as a type of choroidal dystrophy and affects both the choroid and retinal pigment epithelium (RPE) The gene causing the condition[dovemed.com]
  • In fact, the etiology of myopia involves a multitude of factors although heredity definitely plays a role. It also occurs as a result of environmentally induced conditions.[pointsdevue.com]
  • Certainly some diagnoses to be considered when looking at corneal haze include anterior basement membrane dystrophy, Fuchs’ endothelial dystrophy, posterior polymorphous membranous dystrophy, as well as a variety of infectious etiologies.[healio.com]

Epidemiology

  • The genetic epidemiology of joint hypermobility: A population study of female twins. Arthritis Rheum. 2004;50:2640–2644.) Figure 1. Questions physicians should ask patients to detect benign joint hypermobility syndrome.[jaoa.org]
  • See also Introduction to Genetic Epidemiology.[dorak.info]
  • Recent study showed Chinese prevalence rates for low, moderate, and high myopia that were similar to those reported in North America and South India, were higher than those in epidemiological studies in Australia, and they were lower than those in Singaporean[pointsdevue.com]
  • Clinical and Epidemiologic Research 53: 7169-7175. 4 Vitale, S et al. 2009. Increased prevalence of myopia in the United States between 1971-1972 and 1999-2004. Arch Ophthalmol 127(12): 1632-1639. 5 Rudnicka AJ, et al. 2016.[nei.nih.gov]
Sex distribution
Age distribution

Pathophysiology

  • At the other side the genetic factors include the hypothetical list with candidate genes though to be responsible for the developments of nearsightedness, based on the pathophysiology of myopia syndrome (nature vs. nurture).[wespeakscience.com]
  • The identification of this gene may provide insight into the pathophysiology of myopia and eye development.” Here is what I want to show you.[endmyopia.org]

Prevention

  • Background Myopia is the leading cause of preventable blindness in children and young adults [ 1 ].[bmcophthalmol.biomedcentral.com]
  • TREATMENT Prevention of Myopia in Otherwise Healthy Infants and Children Over the years, several rationales for the possibility of prevention of myopia have been proposed.[entokey.com]
  • Primary prevention includes genetic counseling, while tertiary prevention involves regular monitoring for complications.[amboss.com]
  • To help prevent myopia, Klaver said, parents should have children play outside for 15 hours a week, and limit “near work” to no longer than 45 continuous minutes.[reuters.com]

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