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Autosomal Recessive Myopia 18

MYP18


Presentation

  • Patients tend to present a decade earlier and early macular involvement rapidly impairs vision.[patient.info]
  • Retinal detachment and/or phthisis was only present in the child with the ADAMTS18 mutation.[cags.org.ae]
  • DISCUSSION This case demonstrates the uncommon presentation of narrow angles in a highly myopic young patient.[glaucomatoday.com]
  • Foster-Fuch’s spots, as dark red circular patch due to sub-retinal neovascularisation and choroidal haemorrhage, may be present. Associated lattice degeneration and/or snail track lesion may be present in the periphery of retina.[nhp.gov.in]
  • He presented several episodes of severe hypochromic microcytic anemia which required blood transfusion.[bmcmedgenet.biomedcentral.com]
Inflammation
  • Spaide, MD has made many discoveries in the field of vitreoretinal diseases including myopia, macular degeneration, and intraocular inflammation. He has spearheaded development of multiple forms of retinal imaging.[books.google.com]
  • An extremely rare (a single family reported in the literature) condition (OMIM:255600) characterised by chronic inflammation of slender skeletal muscles with firm consistency, accompanied by hyperplasia of the interstitial connective tissue and restriction[medical-dictionary.thefreedictionary.com]
  • Choroidopathy: the idiopathic multifocal white dot syndromes [ 7 ] This is a heterogeneous group of conditions characterised by chorioretinal inflammation [ 8 ].[patient.info]
  • Reported cases in the literature of angle closure in the setting of high myopia (excluding those due to inflammation or contracting membranes) include a number of possible etiologies such as primary pupillary block, plateau iris, malignant glaucoma after[glaucomatoday.com]
  • Inflammation of the eye, increased dryness of the eye, and cataracts are some of the risks associated with refractive surgery.[encyclopedia.com]
Physician
  • *Medscape Business of Medicine Academy Survey, September 2015 Learn from Experienced Professionals Courses were developed especially for physicians by business health experts and experienced physicians.[medscape.com]
  • Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.[rarediseases.org]
  • Background Pitt-Hopkins syndrome was first described by two physicians in 1978. Until recently, the diagnosis of PTHS was based on a person’s medical history and a physical examination. In recent years, the genetic cause of PTHS has been identified.[chromosome18.org]
  • Ophthalmologist — A physician specializing in the medical and surgical treatment of eye disorders. Optic nerve — A bundle of nerve fibers that carries visual messages from the retina in the form of electrical signals to the brain.[encyclopedia.com]
Surgical Procedure
  • View videos of surgical procedures and access the complete contents of Retina, 5th Edition online at www.expertconsult.com, fully searchable, with regular updates and a downloadable image gallery.[books.google.com]
  • The most common surgical procedure performed to correct myopia is laser in situ keratomileusis (LASIK).[encyclopedia.com]
  • Refractive lens exchange (RLE): Refractive lens exchange (RLE) is a surgical procedure that may correct refractive error by removing and replacing the clear crystalline lens of the eye with intraocular lenses (IOLs).[nhp.gov.in]
Movement Disorder
  • This richly illustrated, full color text covers areas such as: malformations; refractive errors, the cornea, glaucoma and cataracts; retina and the optic nerve; eye movement disorders, and systemic disease of the eye.[books.google.com]
  • Additional symptoms may eventually develop including dystonia, a group of movement disorders that vary in their symptoms, causes, progression, and treatments.[rarediseases.org]
Beak Nose
  • Affected individuals may have distinctive facial features, which can include a beaked nose, an abnormally long groove that runs from the base of the nose to the upper lip (philtrum), a high forehead, and large ears.[rarediseases.org]
Slurred Speech
  • Neurological regression can be associated with a variety of symptoms including slurred speech, an inability to coordinate voluntary movements (ataxia), and increased muscle tone and stiffness (spasticity).[rarediseases.org]

Workup

  • Diagnosis, Workup and Treatment While the patient was under anesthesia, an optical coherence tomography test and electroretinography were performed.[reviewofophthalmology.com]

Treatment

  • Put the very latest scientific and genetic discoveries, diagnostic imaging methods, drug therapies, treatment recommendations, and surgical techniques to work in your practice.[books.google.com]
  • Treatment - monotherapy: ciclosporin or triple therapy: systemic steroids, azathioprine and ciclosporin; stem cell treatment [ 10 ].[patient.info]
  • Alternative treatments Some eye care professionals recommend treatments to help improve circulation, reduce eye strain, and relax the eye muscles.[encyclopedia.com]
  • Goals of treatment include close monitoring for retinal tears or detachment and ectopia lentis.[reviewofophthalmology.com]
  • Treatment Treatment Options: Correction of the refractive error is primary. High myopes require periodic evaluation throughout life and prompt surgical intervention for retinal detachments.[disorders.eyes.arizona.edu]

Prognosis

  • Prognosis - this condition recurs over months and frequent foveal involvement gives rise to a relatively poor prognosis. Multiple evanescent white dot syndrome (MEWDS) Nature - uncommon, idiopathic and self-limiting condition.[patient.info]
  • The prognosis of children with Knobloch syndrome is greatly affected by the extent of CNS malformation, systemic involvement and increased risk of retinal detachment.[reviewofophthalmology.com]
  • Prognosis The prognosis is good in simple myopia. The refractive error usually stabilises by the age of 21 years. In pathological myopia, visual prognosis is always guarded. There is possibility of progressive visual loss due to degeneration.[nhp.gov.in]
  • Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.[rarediseases.org]
  • Generally the prognosis is good. However, often the retina does become thin in the central affected area, and the sight may get slightly worse with age as the retina thins.[goodhopeeyeclinic.org.uk]

Etiology

  • Keratoconus is a complex condition of multifactorial etiology. Both genetic and environmental factors are associated with KTCN.[meajo.org]
  • 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]
  • Reported cases in the literature of angle closure in the setting of high myopia (excluding those due to inflammation or contracting membranes) include a number of possible etiologies such as primary pupillary block, plateau iris, malignant glaucoma after[glaucomatoday.com]
  • The likelihood of a genetic or teratogenic etiology increases the more congenital anomalies with which a patient presents.[perioimplantadvisory.com]
  • However, AlBakri et al recently reported 7 patients with Knobloch syndrome whose axial lengths were consistent with axial myopia.(5) Thus, the etiology of the myopia in each case may vary.[djo.harvard.edu]

Epidemiology

  • On the other hand, various studies in epidemiology have shown that myopia is associated with certain behaviors (environment) like near-work, intensive studying and reading.[brighthub.com]
  • Relevant External Links for ADAMTS18 Genetic Association Database (GAD) ADAMTS18 Human Genome Epidemiology (HuGE) Navigator ADAMTS18 Atlas of Genetics and Cytogenetics in Oncology and Haematology: ADAMTS18 No data available for Genatlas for ADAMTS18 Gene[genecards.org]
  • 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]
  • Cleft lip with or without cleft palate (CL/CP) differs from an isolated cleft palate (CP) on embryonic, epidemiologic, and genetic levels.[perioimplantadvisory.com]
  • Epidemiology PM is more prevalent in the Asian population than among other racial groups.[ijo.in]
Sex distribution
Age distribution

Pathophysiology

  • Comprehensively updated to reflect everything you need to know regarding retinal diagnosis, treatment, development, structure, function, and pathophysiology, this monumental ophthalmology reference work equips you with expert answers to virtually any[books.google.com]
  • Identifying the genetic markers for myopia would be a useful step toward understanding the molecular defects that lead to the pathophysiology of myopia.[molvis.org]
  • The pathophysiology of this progressive, degenerative form of myopia is unknown.[medtextfree.wordpress.com]
  • View Article PubMed Google Scholar Leibrero A, Martins E, Cruz C, Almeida J, Maciel MJ, Cardoso JC, Lima CA: Marfan syndrome: clinical manifestations, pathophysiology and new outlook on drug therapy. Rev Port Cardiol. 2010, 29: 1021-1036.[bmcmedgenet.biomedcentral.com]
  • […] development of HM. [22], [23] Twin studies report high heritability values of up to 90%. [24] Currently, the most studied environmental parameter thought to be protective against development of myopia is time spent by children outdoors. [25], [26], [27] Pathophysiology[ijo.in]

Prevention

  • Student Fellowship, NIH Grant RO1 EY014685, Research to Prevent Blindness, Inc.[iovs.arvojournals.org]
  • Prevention Eye strain can be prevented by using sufficient light for reading and close work, and by wearing corrective lenses as prescribed.[encyclopedia.com]
  • At this point in time, there are many challenges for myopia research with respect to preventative and therapeutic aspects of myopia. Other reference: [19].[pointsdevue.com]
  • For the National Birth Defects Prevention Network. Updated national birth prevalence estimates for selected birth defects in the United States. 2004-2006. Birth Defects Research (Part A): Clinical and Molecular Teratology 2010;88:1008-1016. 3.[perioimplantadvisory.com]
  • Prevention may be needed for Pathological myopia : Patients with pathological myopia may be advised to avoid marriage amongst them self to avoid similar disease in their children.[nhp.gov.in]

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