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Syndromic Microphthalmia Type 10

MCOPS10


Presentation

  • 77299 Synonym(s): MCOPS10 MOBA syndrome Syndromic microphthalmia type 10 Prevalence: Inheritance: Autosomal recessive Age of onset: Neonatal ICD-10: Q11.2 OMIM: 611222 UMLS: - MeSH: - GARD: 9292 MedDRA: - The documents contained in this web site are presented[orpha.net]
  • The globes may be sufficiently small that anophthalmia is sometimes diagnosed but this is a misnomer as some ocular tissue is always present.[disorders.eyes.arizona.edu]
  • A number of other conditions and syndromes may present with infantile glaucoma, along with other ocular and/or systemic findings.[centogene.com]
  • The hole is present from birth and can be caused when a gap called the choroid fissure, which is present during early stages of prenatal development, fails to close up completely before a child is born.[disabled-world.com]
  • May present as reduced visual acuity or visual field. May present in adulthood with visual loss due to retinal detachment (see 'Complications', below).[patient.info]
Hydrops Fetalis
  • Stay at the forefront of your field thanks to new and completely revised chapters covering topics such as: Principles and Practice l Immune and Non-immune Hydrops Fetalis l Amniotic Fluid Volume l Enhancing Safe Prescribing in the Neonatal Intensive Care[books.google.de]
Psychomotor Retardation
  • SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES; SPPRS Is also known as ;spprs syndrome; spastic paraplegia-psychomotor retardation-seizures syndrome Related symptoms: Autosomal recessive inheritance Intellectual disability Seizures[mendelian.co]
  • retardation 0025356 Severe muscular hypotonia Severely decreased muscle tone 0006829 Single transverse palmar crease 0000954 Small scrotum Underdeveloped scrotum 0030276 Toe syndactyly Fused toes Webbed toes [ more ] 0001770 Uplifted earlobe Lobe, uplifted[rarediseases.info.nih.gov]
  • retardation, hypotonia, cleft palate, craniosynostosis, hypothyroidism, vertebral anomalies and sensorineural deafness.[bredagenetics.com]
Polyneuropathy
  • Hypertrophic Cardiomyopathy TTN Titin Dilated Cardiomyopathy 1G Limb-Girdle Muscular Dystrophy Type 2J Myopathy, early-onset, with fatal cardiomyopathy Myopathy, proximal, with early respiratory muscle involvement TTR Transthyretin Familial Amyloid Polyneuropathy[bcm.edu]

Treatment

  • Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout.[books.google.de]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Treatment Treatment Options: There is no treatment beyond supportive care for specific health issues.[disorders.eyes.arizona.edu]
  • Additionally, candidacy for cochlear implantation, currently the only medical treatment available for the treatment of profound sensorineural hearing loss, cannot be established without a comprehensive medical examination.[californiaearinstitute.com]
  • Treatment of Microphthalmia and Anophthalmia Can microphthalmia and anophthalmia be treated? There is no treatment at this time for severe microphthalmia or anophthalmia that will restore a person's vision or create a new eye for them.[disabled-world.com]

Prognosis

  • Prognosis [ 9 ] The prognosis for vision depends on the severity and location of the coloboma (particularly in relation to the optic nerve, macula and maculopapular bundle) and on any complications such as retinal detachment or amblyopia.[patient.info]
  • Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.[mendelian.co]
  • Prognosis. Scot Med J 1957; 2: 200-15. Pubmed van Swieten JC, et al. Interobserver agreement for the assessment of handicap in stroke patients. Stroke 1988; 19: 604-7.[att.ebm-library.jp]

Etiology

  • Clinically, each CGS is characterized by a specific and complex phenotype, which was recognized in most cases as a genetic syndrome before knowledge of their cytogenetic etiology.[ommbid.mhmedical.com]
  • The A/M spectrum may be isolated or syndromic and is etiologically and clinically heterogeneous with substantial phenotypic overlap in many cases.[bmcmedgenet.biomedcentral.com]
  • Awareness of orbital, ocular and adnexal development and the migratory pattern of neural crest cells is useful for understanding the etiology of congenital orbital, eyelid and lacrimal anomalies.[reviewofophthalmology.com]
  • Learning Objectives Learning Objectives : Upon completion of this educational activity the participant should be able to recognize sonographic features of ectopic pregnancy, describe physiologic changes and common etiologies for pelvic pain in the pregnant[sonoworld.com]

Epidemiology

  • Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.de]
  • You can help by adding to it. ( July 2017 ) Epidemiology [ edit ] The most extensive epidemiological survey on this congenital malformation has been carried out by Dharmasena et al [4] and using English National Hospital Episode Statistics, they calculated[en.wikipedia.org]
  • The epidemiology of anophthalmia and microphthalmia in Sweden. Eur. J. Epidemiol. , 20 , 345-50. PMID: 15971507 10194985 Online Textbooks Developmental Biology (6th ed.) Gilbert, Scott F. Sunderland (MA): Sinauer Associates, Inc.; c2000.[embryology.med.unsw.edu.au]
  • PubMed Google Scholar Kallen B, Robert E, Harris J: The descriptive epidemiology of anophthalmia and microphthalmia. Int J Epidemiol. 1996, 25: 1009-1016. 10.1093/ije/25.5.1009.[bmcmedgenet.biomedcentral.com]
  • Epidemiology [ 1 ] The estimated incidence of coloboma is about 1 in 10,000 births. Coloboma is estimated to account for 3-11% of blindness in children worldwide. Aetiology [ 2 ] The eye develops in the embryo, from the optic cup and optic fissure.[patient.info]
Sex distribution
Age distribution

Prevention

  • Early detection and treatment could prevent vision loss. See an eye care professional right away if you have a sudden change in vision, if everything looks dim, or if you see flashes of light.[icdlist.com]
  • In mammals the failure of expression of the transcription factor, MITF ( microphthalmia-associated transcription factor ), in the pigmented retina prevents this structure from fully differentiating.[en.wikipedia.org]
  • For long term storage store at -20 degree C in small aliquots to prevent freeze-thaw cycles. Other Notes Small volumes of anti-STRA6 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage.[mybiosource.com]
  • These may include the use of specially tinted glasses or contact lenses (e.g., to help reduce possible sensitivity to light), measures to help prevent or treat infection, or other preventive or therapeutic steps.[rarediseases.org]
  • Pubmed 【CURE出血基準(Clopidogrel in Unstable Angina to Prevent Recurrent Events)】 大出血 実質的障害をもたらす出血,失明に至る眼内出血,2単位以上の輸血を要する出血。[att.ebm-library.jp]

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