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]

• Pallor

  […] the repeat region on chromosome 14q11.2 #164300 OGUCHI DISEASE Congenital stationary night blindness, golden yellow fundus in light that disappears in dark adaptation (Mizuo-Nakamura phenomenon) AR SAG, GRK1 #258100, #613411 OPTIC ATROPHY Optic nerve pallor [eyewiki.aao.org]

  This is evident especially within the staphyloma itself, where the fundus pallor is exaggerated by the increased visibility of the underlying sclera. With time and progression, traction and tension phenomena are observed. [medtextfree.wordpress.com]

• Blurred Vision

  Biannual examinations may reveal lacquer crack development that is not heralded by a photopsia or blurred central vision. [medtextfree.wordpress.com]

  Accordingly, management of intracranial pressure includes monitoring for increased pressure, sudden onset of headaches, and blurred vision that may result in the need for decompression craniectomy or other forms of surgical decompression. [encyclopedia.com]

  DEFICIENCY Pigmentary retinopathy AR HADHA #609016 LEBER CONGENITAL AMAUROSIS Pigmentary retinopathy, photophobia, cataract, nystagmus, eye poking, diminished electroretinogram AD, AR Numerous Multiple LEBER HEREDITARY OPTIC NEUROPATHY Progressive blurred [eyewiki.aao.org]

• Round Face

  EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS;EDMMD HP:0004322 Short stature TAS TAS OMIM:132450 HPO:skoehler Feb 25, 2013 OMIM:132450 #132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS;EDMMD HP:0000311 Round [sourceforge.net]

• Seizure

  Seizure activity can occur subtly so that seizure goes unnoticed (subclinical seizures). Peripheral neuropathy, which is a general term for any disorder of the peripheral nervous system, may also occur. [rarediseases.org]

  She was fine until the seventh day of her life, when she had a seizure and was admitted to the pediatric emergency service in another center. [academic.oup.com]

  Children with MIOP are at risk of developing hypocalcaemia, with attendant tetanic seizures and secondary hyperparathyroidism[ 1, 4-5 ].Rickets has been also observed as a complication of MIOP [ 13 ].The above patient showed hypocalcaemia and rickets. [panafrican-med-journal.com]

  The most frequent presentations in infancy are seizures, low calcium level, convulsions, failure of visual fixation (nystagmus), large spleen and liver (hepatosplenomegaly), and frequent broken bones. [encyclopedia.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]

• Confusion

  Myopes are unprotected from acquiring this infection, but its characteristics are not easily confused with those of degenerative myopia. [medtextfree.wordpress.com]

  The cornea is a tough, transparent, dome-shaped tissue that covers the front of the eye (not to be confused with the white, opaque sclera). The cornea lies in front of the iris (the colored part of the eye). [medical-dictionary.thefreedictionary.com]

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 and disease burden of pathologic myopia and myopic choroidal neovascularization: an evidence-based systematic review. Am J Ophthalmol. 2014;157(1),9-25. http://dx.doi.org/10.1016/j.ajo.2013.08.010 22. [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]