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Non-Syndromic Ocular Stickler Syndrome Type 1 

Predominantly Ocular Stickler Syndrome Type 1


Presentation

  • 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]
  • Weiss ring also presents but not in all cases d. A Marcus-Gunn pupil (relative afferent pupillary defect) is present in eyes with extensive e. RDs irrespective of the types f.[gradestack.com]
  • […] a case of bilateral SRD as a presenting sign of Vogt-Koyanagi-Harada's disease in a HLAB5-positive man.[ruralneuropractice.com]
  • This feature presents a series of macular-themed images to test the practitioner’s recognition and clinical management skill.[aop.org.uk]
  • Lattice degeneration is present and often radial and perivascular ( Fig. 14.5 ). There is a high incidence of retinal breaks, which may be multiple or giant retinal tears. Cataracts and glaucoma are often present. FIGURE 14.4.[entokey.com]

Workup

  • 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]
  • ‘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]

Treatment

  • 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]
  • 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]
  • 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]
  • Features of macroaneurysms include: a. more common in women than men b. more common in the temporal arcade than the nasal arcade c. retinal artery occlusion d. occurs in IRVAN syndrome e. progressive enlargement and therefore early treatment with treatment[mrcophth.com]

Prognosis

  • 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]
  • 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]

Etiology

  • 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]
  • Indian Journal of Ophthalmology. 2010; 58(3): 254-255 [Pubmed] 5 Etiology and management of hyperimmunoglobulinemia e syndrome Gonzalez-Granado, L.I. Indian Journal of Ophthalmology. 2010; 58(3): 254 [Pubmed][ijo.in]
  • Etiology and pathogenesis FEVR primary pathology is a premature arrest of retinal vasculogenesis, leading to incomplete vascularisation of the peripheral retina. The secondary complications are mainly due to retinal ischemia.[institut-vision.org]
  • Etiology Types 1-4 Stickler syndrome are classically inherited in an autosomal dominant fashion [3], though a significant number of cases may be sporadic. [2] Risk Factors The only known risk factor for Stickler syndrome is a family history of the condition[eyewiki.aao.org]

Epidemiology

  • 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]
  • Epidemiology Frequency United States Lattice degeneration affects approximately 10% of the population and is bilateral in 30-50% of patients who are affected.[emedicine.medscape.com]
  • Epidemiology, onset & clinical features Epidemiology The disease is often described as rare or very rare, through the exact prevalence remains unknown.[institut-vision.org]
  • EPIDEMIOLOGY AND PATHOGENESIS All patients who are afflicted with the condition are part of a large, multiple-generation pedigree concentrated in the Figure 112-6 Juvenile retinoschisis.[medtextfree.wordpress.com]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • […] 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 Stickler syndrome is believed to be a direct result of abnormalities in the production of collagen types II, IX and XI, all of which are recognized as components of the human vitreous. [2] Normal collagen fibrils are composed of three[eyewiki.aao.org]

Prevention

  • 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]
  • Additional Contributors Acknowledgements This review was partly supported by a Research to Prevent Blindness Grant #OP 31 for David Sarraf, MD.[emedicine.medscape.com]
  • Prevention of the primary manifestations of the disease is not possible at present, but prevention and treatment of manifestations mostly related to the neovascularization process may be achieved by prophylactic cryotherapy or argon laser.[institut-vision.org]

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