In this case, the timely identification of a subclinical retinal detachment in the right eye at presentation facilitated preventative intervention to this eye. The timing of this presentation is unlikely to represent a coincidence. [docksci.com]

[…] in the present study (Appendix 1). [molvis.org]

No other signs or symptoms of Stickler syndrome is present. [orpha.net]

Significant short stature present in our patient has not been reported previously. In previous reports height was reported to be normal in most patients [5, 6]. [hindawi.com]

• Asymptomatic

  Forms and Documents CREATE A CUSTOM PANEL Test Details Clinical Utility: Molecular confirmation of a clinical diagnosis in symptomatic individuals Risk assessment of asymptomatic family members of a proband diagnosed with a heritable connective tissue [genedx.com]

  As many of the affected individuals may be asymptomatic, the prevalence of the disorder may be underestimated. FEVR has been described in all ethnic groups. [institut-vision.org]

  […] retinal detachment and the onset of puberty in these patients and suggest that a dilated retinal screening examination should be scheduled at around the time of puberty for patients with spondyloepimetaphyseal dysplasia— Strudwick type to detect any asymptomatic [journals.lww.com]

  The electro-oculogram (EOG) is usually abnormal, even in asymptomatic patients and is therefore helpful in making the diagnosis. [atlasrleye.com]

  Furthermore, we suggest that dilated retinal screening examination should be scheduled at around the time of puberty for patients with SEMD-S, to enable detection, monitoring and/or treatment of any asymptomatic sight-threatening retinal pathology. [docksci.com]

• Anemia

  COX15 Q7KZN9 pleiotropic Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 (CEMCOX2) [MIM: 615119 ] Leigh syndrome (LS) [MIM: 256000 ] COX4I2 Q96KJ9 non-pleiotropic Exocrine pancreatic insufficiency dyserythropoietic anemia [sbg.bio.ic.ac.uk]

• Skin Disease

  If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. [rarediseases.org]

  Connexin genes involved in deafness are GJBJ (Cx32), which is also responsible for X- linked Charcot Marie Tooth disease, GJB3 (Cx31) involved in both deafness and a skin disease. K. [juniperpublishers.com]

• Ectopia Lentis

  Aortic root aneurysm and ectopia lentis are the cardinal features. In the absence of family history, the presence of these two manifestations is sufficient for confirmatory diagnosis of Marfan syndrome. [nepjol.info]

  Retinal detachment occurs in 5%–11% of these Marfan patients and increases to 8%–38% in those who have ectopia lentis or who have undergone cataract surgery.[37],[38],[39] Most develop RD at a young age.[37] In a large series, it has been reported that [e-tjo.org]

  lentis, and RRD.4x4Mordechai, S., Gradstein, L., Pasanen, A. et al. [ophthalmologyretina.org]

• Pierre Robin Syndrome

  Pierre Robin syndrome and sensorineural deafness associated in 10% of cases. [accessanesthesiology.mhmedical.com]

  OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA Is also known as osmed, heterozygous|weissenbacher-zweymuller syndrome|pierre robin syndrome with fetal chondrodysplasia stickler syndrome, nonocular type, formerly|stl3, formerly|stickler [mendelian.co]

  A particular group of physical features, called the Pierre Robin sequence, is common in children with Stickler syndrome. [en.wikipedia.org]

  […] thus immunofluorescent histochemistry of skin biopsy samples has proved to be a useful preliminary and complementary test for the diagnosis of Knobloch syndrome.55 Weissenbacher–Zweymuller syndrome, also called Pierre Robin syndrome with fetal chondrodysplasia [clinicalgate.com]

Due to the retrospective nature of our study, the lack of a genetic workup and family evaluation, we were unable to analyze the pattern of inheritance in the study cohort. [dovepress.com]

Approaches to decipher the genetic causes of RRD have included genome-wide association studies of large samples of unrelated patients, as well as clinical and genetic workup of families with hereditary forms of RRD. [ophthalmologyretina.org]

‘Neuropathy screen’ blood tests The neuropathy blood workup was negative in all patients tested apart from a positive ANA in one individual (1-IV:3, titre 1:1280), but all other autoimmune and inflammatory markers were normal. [academic.oup.com]

Take-home point No. 2: Angiography is essential for accurate diagnosis and successful treatment of patients with FEVR. Treatment Options Treatment of FEVR should be guided by the stage of disease. [retinatoday.com]

Differential diagnosis The differential diagnosis includes other type II/XI collagenopathies: Knobloch syndrome Wagner syndrome Multiple epiphyseal dysplasia Kniest dysplasia (Metatropic dwarfism, type II) General treatment Treatment of Stickler syndrome [eyewiki.aao.org]

Management and treatment Management should be multidisciplinary and as clinical expression is very variable, treatment needs to be adapted to each case. Prognosis Prognosis depends on the severity of the signs present. [orpha.net]

Treatment Treatment Options: The combination of progressive vitreoretinal degeneration, frequency of posterior vitreous detachments, and axial myopia creates a lifelong threat of retinal tears and detachments. [disorders.eyes.arizona.edu]

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]

Prognosis Prognosis depends on the severity of the signs present. The documents contained in this web site are presented for information purposes only. [orpha.net]

Prognosis The prognosis of lattice degeneration is generally good. Patient Education Educate the patient on signs of retinal detachment. Encourage annual follow-up for dilated eye examinations. [emedicine.medscape.com]

[…] a) Prognosis is poor and the patient is likely to be registered as visually impaired within 12 months b) The prognosis is generally good with this condition although may progress to become visually debilitating c) The condition is always asymptomatic [aop.org.uk]

Generally, the prognosis for these patients is good. [healio.com]

It has a good prognosis. [atlasrleye.com]

Although this association was of unknown etiology, it is important to consider this in HIE patients. In our patient, corneal topography of both eyes failed to demonstrate any ectasia. [ijo.in]

Lyons, both globally recognized leaders, provide authoritative coverage of all the pediatric ophthalmic conditions you’re likely to encounter in practice, including the latest clinical advances in etiology, diagnosis, and medical and surgical management [books.google.com]

Etiology Stickler syndrome type 1 is caused by mutations in the COL2A1 gene (12q13.11-q13.2), Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21) and Stickler syndrome type 3 (without ocular signs; see this term) is caused by mutations [orpha.net]

[…] data: Class of prevalence: unknown Average age onset: childhood Average age of death: no data available Type of inheritance: autosomal dominant Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death [csbg.cnb.csic.es]

Zurück zum Zitat Sasaki K, Ideta H, Yonemoto J, Tanaka S, Hirose A, Oka C (1995) Epidemiologic characteristics of rhegmatogenous retinal detachment in Kumamoto, Japan. [springermedizin.de]

Summary Epidemiology Incidence at birth has been estimated at around 1/7,500. [orpha.net]

Pierre Robin sequence in Denmark: a retrospective population-based epidemiological study. Cleft Palate Craniofac J. 2004;41:47–52. Robin NH et al. Stickler Syndrome. GeneReviews® 2000 June 9 (Updated 2014 Nov 26) [asperbio.com]

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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]

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[…] disease of the peripheral retina characterized by oval or linear patches of retinal thinning. [1, 2] The prevalence peaks by the second decade and is believed to be minimally progressive but may be complicated by retinal breaks and retinal detachment. [3] Pathophysiology [emedicine.medscape.com]

Pathophysiology: Collagen is an important component of human vitreous. Normal collagen is composed of three fibrils formed from polypeptide chains that are processed into stable trimers. [morancore.utah.edu]

As Stickler syndrome is related to a genetic abnormality, there is no known primary prevention. [eyewiki.aao.org]

No specific treatment has been proven to prevent or delay progression of ADPKD with the current treatment being nonspecific measures, such as strict blood pressure control, dietary protein restriction, a low-salt diet, and statins, which may prevent progression [clik.dva.gov.au]

Early treatment can help prevent life-altering complications. Hearing should be checked every six months in children through age 5 and then yearly thereafter. [mayoclinic.org]

It may be feasible for the patient to position himself for surgery to prevent damage to arthritic joints. Regional techniques may well be appropriate in this group of patients. Intellectual function is normal, although blindness is common. [accessanesthesiology.mhmedical.com]

Pathophysiology (164) Medical Chemistry and Biochemistry (129) Genetics (125) Infectology (107) Surgery, Traumatology and Orthopaedics (101) Neurology (101) Cardiology, Angiology (78) Microbiology (77) Gastroenterology and Hepatology (73) Epidemiology, Preventive [portal.mefanet.cz]