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]

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]

At presentation, 22 (31.4%) eyes had a giant tear, six (8.6%) eyes had a horseshoe break, single breaks were present in seven (10.0%) eyes, multiple breaks in 35 (50%) eyes, and macular hole in two (2.85%) eyes. [dovepress.com]

History Stickler syndrome classically presents in the pediatric population due to the characteristic facies associated with Pierre-Robin sequence. [eyewiki.aao.org]

• Broad Thorax

  The thorax was broad and short. The ilia appeared short and broad. Diffuse osteopenia was evident at the epiphysis of bilateral femora and tibiae which were normal in shape, apart from mild flattening of the distal femoral epiphyses. [hindawi.com]

• Turkish

  A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient. Am J Med Genet A. 2011;155A(1):180-185. Google Scholar | Crossref | Medline | ISI 32. [journals.sagepub.com]

• Delayed Dentition

  dentition / eruption of teeth / lack of eruption of teeth - Facial dysmorphism - Facial palsy - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Flat foot - Frontal bossing / prominent forehead - Genu valgum - Glaucoma [csbg.cnb.csic.es]

• Hip Dislocation

  dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Kyphosis - Late puberty / hypogonadism / hypogenitalism - Leukopenia / hypoleukocytosis - Lordosis - Marfanoid morphotype - Multiple caries - Optic nerve anomaly / optic atrophy / anomaly [csbg.cnb.csic.es]

• Frontal Bossing

  bossing / prominent forehead - Genu valgum - Glaucoma - Hearing loss / hypoacusia / deafness - Hepatomegaly / liver enlargement (excluding storage disease) - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Kyphosis - Late puberty [csbg.cnb.csic.es]

• Echolalia

  Leukopenia / hypoleukocytosis - Lordosis - Marfanoid morphotype - Multiple caries - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Proptosis / exophthalmos - Scoliosis - Sensitive trouble / deficit - Speech troubles / aphasia / dysphasia / echolalia [csbg.cnb.csic.es]

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]

• Schmorl's Nodes

  They found scoliosis in 34% cases, 74% endplate abnormalities, 64% Schmorl’s nodes, 43% platyspondyly, and Scheuermann-like kyphosis in 43% [8]. [hindawi.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]

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]

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]

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]

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]

Prognosis There is currently no available data on long-term visual prognosis of Stickler syndrome; however, prophylactic treatment to prevent retinal detachment is expected to improve long term visual prognosis. [eyewiki.aao.org]

[…] 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]

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]

[…] dominant RRD families without systemic abnormalities.26 Although genetic susceptibility to RRD appears to be present in specific families, it is currently unknown whether RRD occurring in a general population has a genetic etiology. [jamanetwork.com]

[…] 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]

Sasaki K, Ideta H, Yonemoto J, Tanaka S, Hirose A, Oka C (1995) Epidemiologic characteristics of rhegmatogenous retinal detachment in Kumamoto, Japan. Graefe’s Arch Clin Exp Ophthalmol 233:772–776 Google Scholar 19. [link.springer.com]

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]

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]

Internal Medicine (247) Pathology and Forensic Medicine (222) Paediatrics, Neonatology (214) Physiology and Pathophysiology (164) Medical Chemistry and Biochemistry (129) Genetics (125) Infectology (107) Surgery, Traumatology and Orthopaedics (101) Neurology [portal.mefanet.cz]

[…] 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]

In these subjects measures to prevent RRD are an option, even when anatomical substrates of precursors of RRD are absent. [link.springer.com]

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]