Binocular vision is often present. The familial and hereditary pattern so often present in the general fibrosis syndrome is rarely encountered. [healio.com]

Four contiguous, 1-mm-thick MRI oblique axial image planes, obtained with heavy T 2 -weighting, are presented in rostral-to-caudal sequence. F igure 4. [iovs.arvojournals.org]

[…] of Ophthalmology 2013-present: American Association of Pediatric Ophthalmology and Strabismus (AAPOS) 2014-2016: American Medical Association 2014-present: Massachusetts Medical Society 2015-present: Association for Research in Vision and Ophthalmology [masseyeandear.org]

The signs and symptoms of neurological disease are elusive by their very nature, presenting a confounding diagnostic challenge. [books.google.de]

A 17-year-old boy presented with a large exotropia with both eyes fixed in an abduction and upgaze, pupillary involvement since childhood. [ncbi.nlm.nih.gov]

• Turkish

  CFEOM1 and CFEOM3 have been reported worldwide, whereas CFEOM2 has been seen in only a few families of Turkish, Saudi Arabian, and Iranian descent. Tukel syndrome appears to be very rare; it has been diagnosed in only one large Turkish family. [ghr.nlm.nih.gov]

  Results: Six affected patients with CFEOM/U (aged 2 to 29 years) from a large consanguineous Turkish family were studied. [jmg.bmj.com]

  In one study, it was noticed that the R954W mutation in all of the affected Swiss, Turkish, and French origin families with CFEOM1 and a random case in Iran were the same. [wiki.ggc.usg.edu]

  PubMed Google Scholar Sener EC, Lee BA, Turgut B, Akarsu AN, Engle EC: New clinical variation of a fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12. Arch Ophth 2000, 118: 1090–1097. [bmcgenet.biomedcentral.com]

• Cardiomegaly

  The patient's father possibly had Noonan syndrome as he had a short-neck, sensorineural deafness and cardiomegaly. She also had a sister that had similar facial features and pulmonary stenosis, and died at the age of 19. [jpgmonline.com]

• Long Arm

  Mapping a gene for Noonan syndrome to the long arm of chromosome 12. Nat Genet 1994;8:357-60. 9. Vesterhus P, Aarskog D. Noonan's syndrome and autoimmune thyroiditis. J Pediatr 1973;83:237-40. [ PUBMED ] 10. Martin DM, Gencyuz CF, Petty EM. [jpgmonline.com]

  Further interrogation of the locus narrowed the critical region to ∼1.5 Mb between D21S1897 and the telomere of the long arm. [jmg.bmj.com]

• Short Arm

  Localization of a gene which complements branched-chain amino acid transaminase deficiency to the short arm of human chromosome 12. Hum. [nature.com]

• Suggestibility

  These findings suggest that CFEOM3 is an asymmetrical, variably penetrant, congenital cranial dysinnervation disorder leading to secondary EOM atrophy. [ncbi.nlm.nih.gov]

  SELECTED GENES FOR YOUR SLICE SUGGESTED CUSTOM SLICES Customize below OR enter Suggested Slice ID on printed requisition form (e.g. 706 XomeDx Slice - Slice ID: CS-Albinism). [genedx.com]

  In addition, increased numbers of internal nuclei and central mitochondrial clumping are found in other extraocular muscles, suggesting that the muscle pathology extends beyond the muscles innervated by the superior division of cranial nerve III. [scholar.harvard.edu]

• Rotary Nystagmus

  There also was right exotropia and an intermittent mixed horizontal and rotary nystagmus. [jpgmonline.com]

• Pendular Nystagmus

  3'27; ventricular septal defect 2I ; anomalous posterior tendonous insertions and an absence of the lateral rectus "; choroidal coloboma and secondary fibrous bands l; pendular nystagmus and bilateral optic disc hypoplasia (Case No. 7); and talipes equinovalgus [healio.com]

The format includes the CPT codes for billing purposes, short description of the condition, etiology/incidence, course/prognosis, laboratory findings, differential diagnosis; prophylaxis, treatment (local and systemic, surgical or other), miscellaneous [books.google.de]

Early treatment is important because of the risk of amblyopia. Surgery is the primary treatment option for strabismus and blepharoptosis. [ingentaconnect.com]

Treatment Treatment Options: Normal ocular movements cannot be restored but large recessions of the inferior recti followed by frontalis suspension of the upper eyelids can improve severe ptosis and the compensatory chin-up gaze. [disorders.eyes.arizona.edu]

The surgery of both extraocular muscles and ptosis led to a fair outcome in mother even 30 years after, and a very good outcome in daughter 4 years after the treatment. [ncbi.nlm.nih.gov]

N Engl J Med 354:462–471 PubMed CrossRef Google Scholar Benatar M, Kaminski H (2006) Medical and surgical treatment for ocular myasthenia. [link.springer.com]

Upon diagnosis, treatment may be provided that include prescription eyeglasses and surgical procedures, as necessary The prognosis of Congenital Fibrosis of the Extraocular Muscles depends on the severity of the signs symptoms. [dovemed.com]

The format includes the CPT codes for billing purposes, short description of the condition, etiology/incidence, course/prognosis, laboratory findings, differential diagnosis; prophylaxis, treatment (local and systemic, surgical or other), miscellaneous [books.google.de]

The visual prognosis depends on the treatment of amblyopia. A timely referral to ophthalmology is necessary to begin treatment. If the lid occludes the pupil, the referral is urgent to prevent dense vision loss. [clinicaladvisor.com]

BMJ 345:8497 CrossRef Google Scholar Spillane J, Hirsch NP, Kullmann DM, Taylor C, Howard RS (2014) Myasthenia gravis ‐ treatment of acute severe exacerbations in the intensive care unit results in a favourable long‐term prognosis. [link.springer.com]

The format includes the CPT codes for billing purposes, short description of the condition, etiology/incidence, course/prognosis, laboratory findings, differential diagnosis; prophylaxis, treatment (local and systemic, surgical or other), miscellaneous [books.google.de]

Mobius’ syndrome: features and etiology. J Pediatr Ophthalmol Strabismus 1998;35(6):304-11; quiz 327-8. 24. D’Cruz OF, Swisher CN, Jaradeh S, Tang T, Konkol RJ. Mobius syndrome: evidence for a vascular etiology. J Child Neurol 1993;8(3):260-5. 25. [neuroophthalmology.ca]

Mark; Matsumoto, Naomichi; Saito, Nakamichi; Louise Z Collins, Mary; Morris, Lisa; Monte, Del M; Magli, Adriano; de Berardinis, Teresa 2002-03-06 Citation: BMC Genetics. 2002 Mar 06;3(1):3 Abstract: Abstract Background To learn about the molecular etiology [deepblue.lib.umich.edu]

(This retrospective chart review of 56 children with Horner syndrome found 13 [23%] had a neoplasm as the etiology of their disease. [clinicaladvisor.com]

Although the Engle lab has enrolled and studied more than 1660 probands meeting CCDD criteria, the genetic etiology of CCDDs in ~85% of probands remains undefined. [p3.snf.ch]

Relevant External Links for PHOX2A Genetic Association Database (GAD) PHOX2A Human Genome Epidemiology (HuGE) Navigator PHOX2A Atlas of Genetics and Cytogenetics in Oncology and Haematology: PHOX2A No data available for Genatlas for PHOX2A Gene Sudden [genecards.org]

The pathophysiology of this disorder is unknown and it is unclear if it has a primary neurogenic or myopathic etiology. We report linkage of this disorder, in two unrelated families, to markers in the pericentromeric region of human chromosome 12. [nature.com]

Semin Neurol 24:155–163 PubMed CrossRef Google Scholar Dalakas MC (2013) Pathophysiology of autoimmune polyneuropathies. [link.springer.com]

193 Scleral Complications 1931 Grey Spot 195 1932 Scleral Ridge 196 1934 Scleritis 1935 Agyrosis 194 Anterior SegmentIntraocular Complications References 200 Anterior Segment Ischemia 201 Blood Supply of the Anterior Segment 202 203 Risk Factors and Prevention [books.google.de]

Congenital fibrosis of the extraocular muscles prevents the normal development and function of these muscles. As a result, affected individuals are unable to move their eyes normally. [ghr.nlm.nih.gov]

To prevent vision loss in the eye with the worst symptoms, amblyopia therapy is recommended. [wiki.ggc.usg.edu]

Fibrosis Syndrome Diagnosis: Fibrosis Syndrome Comment to photo: Elevation of both eyes is inhibited thus preventing primary position. To be able to fixate the head has to be tilted backward. Additional exotropia and ptosis are visible. [atlasophthalmology.net]