Symptoma

Myopia Type 17

MYP17

Presents a more streamlined format to the printed text to help you focus on the clinically actionable information you need everyday. [books.google.com]

[…] offers the only hope for cure. [5] We present the case of a female infant with MIOP, who presented to us with hematological abnormalities, failure to thrive and blindness. [wajradiology.org]

Among 94 osteopetrotic patients presenting with a severe clinical picture and diagnosed early in life, 12 bore mutations in the ClCN7 gene, but only 7 of them had the expected two recessive mutations. [scinapse.io]

In the study by Gonen et al. [ 8 ], hepatosplenomegaly was one of the most common finding at the time of presentation. [academic.oup.com]

  • Disability

    Many individuals exhibit mild to moderate intellectual disability. Affected individuals often exhibit delays in attaining speech and motor skills and in reaching developmental milestones (developmental delays). [rarediseases.org]

    Because the cardiovascular complications of Marfan’s syndrome and congenital rubella and the orthopedic disabilities associated with Ehlers–Danlos and Stickler’s syndromes may produce morbidity and even mortality, prompt referral to medical and surgical [medtextfree.wordpress.com]

    Curtis Rogers, MD, Atlas of X-Linked Intellectual Disability Syndromes, Second Edition, 2012 Oxford University Press Elias I. Traboulsi, MD, Genetic Diseases of the Eye, Second Edition, Oxford University Press, 2012 Myron Yanoff, Jay S. [eyewiki.aao.org]

    Shoubridge C, Tarpey PS, Abidi F, Ramsden SL, Rujirabanjerd S, et al. (2010) Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. Nat Genet 42: 486–488. View Article Google Scholar 26. [journals.plos.org]

  • Surgical Procedure

    No surgical procedure was proven the best to prevent the progression of oral infection taking into account the patient's general condition. [scielo.isciii.es]

    Surgical procedures to correct it include radial keratotomy, photorefractive keratectomy, and lasik. Refraction and correction in myopia. [medical-dictionary.thefreedictionary.com]

    Some individuals pursue exploratory tympanotomy, stapedotomy, placement of a total ossicular reconstruction prosthesis, cochlear implantation, insertion of a Wehr's prosthesis, decompression, and other surgical procedures. [encyclopedia.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]

    Benign dominant or autosomal dominant osteopetrosis (ADO) typically presents in childhood, adolescence, or young adult life with multiple fractures, mild anomalies in head and face proportions, mild anemia, hearing loss, bone inflammation/infection, or [encyclopedia.com]

  • 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]

  • Macula

    He is a world renowned retinal specialist who has published more than 300 scientific papers and 11 textbooks, with particular interest in diseases of the macula, such as diabetic retinopathy and age–related macular degeneration. [books.google.com]

    Insight into high myopia and the macula Vitreo-Retina and Uveitis Service, Dr. [ijo.in]

    granular appearing macula, vertical supranuclear gaze palsy AR NPC1, NPC2, SMPD1 #257200, #607616, #257220 NOONAN SYNDROME Epicanthal folds, myopia, ptosis, hypertelorism, downslanting palpebral fissures AD Numerous Multiple NORMAL-TENSION GLAUCOMA [eyewiki.aao.org]

    Visual loss is most often due to macular involvement of a posterior pole staphyloma. [11] The deformity occurs in various locations, described by Curtin[12] as posterior polar (disc and macula central), macula centered with the disc at the margin, peripapillary [medtextfree.wordpress.com]

  • Long Arm

    @article{Paluru2003NewLF, title {New locus for autosomal dominant high myopia maps to the long arm of chromosome 17.}, author {Prasuna C. Paluru and Shawn M. Ronan and Elise Heon and Marcella Devoto and Scott C. Wildenberg and Genaro S. [semanticscholar.org]

    Ideogram of the long arm of chromosome 17, region 21-23 with the markers within the interval containing the high myopia locus. [iovs.arvojournals.org]

    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]

    New locus for autosomal dominant high myopia maps to the long arm of chromosome 17. Invest Ophthalmol Vis Sci 2003;44:1830-6. 19. Young TL, Ronan SM, Alvear AB, Wildenberg SC, Oetting WS, Atwood LD, et al. [ijo.in]

    View Article PubMed PubMed Central Google Scholar Paluru P, Ronan SM, Heon E, Devoto M, Wildenberg SC, Scavello G, Holleschau A, Makitie O, Cole WG, King RA, Young TL: New locus for autosomal dominant high myopia maps to the long arm of chromosome 17. [bmcmedgenet.biomedcentral.com]

  • Headache

    The increase in intracranial pressure caused by the increase in bone size and density often leads to headaches, hearing loss, blindness, facial paralysis, facial nerve palsies, and death. [encyclopedia.com]

    It can also cause headaches. What causes Marfan syndrome? Marfan syndrome is caused by a change or fault (mutation) in the genetic material on one of your chromosomes (chromosome number 15). [patient.info]

    The main adverse effects were photophobia (72.4%), problems with reading (37.7%), and headache (22.4%). [200.98.68.239]

Helps you make optimal use of the newest drug therapies, including Anti-VEGF treatment for wet ARMD and bevacizumab treatment for complications of diabetes. [books.google.com]

What is the treatment for Marfan syndrome? There is no cure for Marfan syndrome. However, some treatments are available to help with the problems that Marfan syndrome causes. [patient.info]

Various treatment options have been suggested for osteopetrosis, but hematopoietic stem cell transplantation still remains the only curative treatment option presently. [academic.oup.com]

Treatment and management of the sclerosing bone dysplasias focus on treatment of specific symptoms of the condition. [encyclopedia.com]

Our findings suggest that recessive ClCN7-dependent ARO may be associated with CNS involvement and have a very poor prognosis, whereas heterozygous ClCN7 mutations cause a wide range of phenotypes even in the same family, ranging from early severe to [scinapse.io]

The classic autosomal recessive form (also known as malignant infantile osteopetrosis – MIOP) has poor prognosis. [academic.oup.com]

[…] adolescent (9) bone and bones - pathology (9) cells (9) congenital osteopetrosis (9) differentiation (9) disease models, animal (9) fractures (9) infants (9) medicine, research & experimental (9) molecular sequence data (9) osteopetrosis - congenital (9) prognosis [query.library.utoronto.ca]

Continued break formation results in a reticular pattern that usually is most obvious in the deepest recess of the staphyloma and portends a guarded prognosis for central vision. [medtextfree.wordpress.com]

Prognosis The prognosis for individuals affected by sclerosing bone dysplasia varies greatly depending upon the type of sclerosing bone dysplasia and severity of symptoms. [encyclopedia.com]

The patient was referred to our department for etiological investigations of hepatosplenomegaly and hydrocephalus. [panafrican-med-journal.com]

Thus, the current linkage analysis was done to test the hypothesis that other alleles at the candidate high myopia loci on chromosomes 18 and 12 might contribute to the etiology of moderate/mild myopia. [bmcmedgenet.biomedcentral.com]

Myopia: a review of its etiology, pathogenesis and treatment. Surv Ophthalmol. 1970;15:1–17. 11. Steidl SM, Pruett RC. Macular complications associated with posterior staphyloma. Am J Ophthalmol. 1997;123:181–7. 12. Curtin BJ. [medtextfree.wordpress.com]

"Role of genetic factors in the etiology of juvenile-onset myopia based on a longitudinal study of refractive error." Optometry and Visual Science 76 (June 1999): 381-386. Saw, SM, et al. "Myopia: gene-environment interaction." [medical-dictionary.thefreedictionary.com]

Epidemiology of myopia. In: Spaide RF, Ohno-Matsui K, Yannuzzi LA, editors. Pathologic myopia. New York: Springer Science and Business Media; 2014. p. 25-38. 21. Wong TY, Ferreira A, Hughes R, Carter G, Mitchell P. [200.98.68.239]

Epidemiology PM is more prevalent in the Asian population than among other racial groups. [ijo.in]

Genetic epidemiology study of pathological myopia. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2000; 17:178-80. [PMID: 10837519] [molvis.org]

EPIDEMIOLOGY AND PATHOGENESIS Not all eyes that have myopia greater than -6D progress; nor does every eye that has progressive myopia develop degenerative complications. [medtextfree.wordpress.com]

Invest Ophthalmol Vis Sci. 2000, 41: S324- Google Scholar Saw SM, Katz J, Schein OD, Chew SJ, Chan TK: Epidemiology of myopia. Epidemiol Rev. 1996, 18: 175-187. [bmcmedgenet.biomedcentral.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]

Pathophysiology and treatment. Clin Orthop 1993;294:64-78. [Figure 1], [Figure 2] [wajradiology.org]

Pathophysiology and treatment. Clin Othop Relat Res 1993 ; 294 : 64 – 68. 13. Infantile osteopetrosis complicated by rickets. AJR Am J Roentgenol 1994 ; 164 : 968 – 70. 14. Malignant infantile osteopetrosis presenting with neonatal hypocalcaemia. [academic.oup.com]

The pathophysiology of isolated high myopia remains unknown. Besides heredity, the trait depends on environmental factors and, moreover, the genetic component is also complex. [jmg.bmj.com]

The pathophysiology of this progressive, degenerative form of myopia is unknown. [medtextfree.wordpress.com]

[…] in Children With Low Concentration of Atropine Unknown status NCT00541177 Phase 4 atropine;tropicamide 2 Echothiophate Iodide for the Prevention of Progression of Myopia Unknown status NCT02544529 Phase 4 Echothiophate Iodide 0.03% Ophthalmic Solution [malacards.org]

While research studies are promising, it could be years before scientists uncover conclusive evidence that might lead to more exacting risk predictors and preventive interventions. [eyeque.com]

Only this will optimise knowledge of this complex group of diseases and prevent unnecessary transplantation. doi:10.1016/j.bone.2009.04.020 P18 Cathepsin Speaker tbc and abstract to follow doi:10.1016/j.bone.2009.04.021 P19 Inhibition of bone resorption [kundoc.com]

No surgical procedure was proven the best to prevent the progression of oral infection taking into account the patient's general condition. [scielo.isciii.es]

We observed a high incidence of hepatic veno-occlusive disease (VOD) in transplanted patients and explored the prevention of this complication by using defibrotide (DF) as a prophylaxis. [nature.com]