Presentation
The present case report is the first to describe the condition in a Chinese patient with no atopic dermatitis or trauma history. A 22-year-old male presented with blurred vision in the left eye for 4 months. [e-tjo.org]
Differential diagnosis and histopathological findings of bilateral congenital retinal detachment in a 10-month-old boy are presented. By ultrasonography, the presence of bilateral retinoblastoma was suspected. [ncbi.nlm.nih.gov]
The anatomy of pediatric eyes, the often late presentation of the disease, and the high incidence of bilateral pathology in children all pose significant challenges in the management of these patients. [jhu.pure.elsevier.com]
Observations : Two young Saudi brothers with a family history of consanguinity presented with the classic clinical presentation and genetic identification of FRAM. [pubfacts.com]
History Stickler syndrome classically presents in the pediatric population due to the characteristic facies associated with Pierre-Robin sequence. [eyewiki.aao.org]
Entire Body System
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Crying
[…] break occurs at the ora serrata and is usually associated with trauma and lacks any lens-zonule-ciliary body anomaly. [12], [13] Retinal detachment related to pars plicata breaks is usually treated with anterior scleral buckling at the ora serrata and cry-opexy [e-tjo.org]
Skin
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Dermatitis
Retinal detachments with crescent-shaped retinal breaks in patients with atopic dermatitis. Retina. 1996;16:312–316. 5. Uemura A, Uto M. [e-tjo.org]
Workup
See Overview and Workup for more detail. [emedicine.medscape.com]
Treatment
Treatment Treatment Options: Low vision aids may be helpful in selected patients. [disorders.eyes.arizona.edu]
It appeared that the left eye would not benefit by treatment and hence we advised a regular check-up for the right eye. [ijo.in]
Risk of Treatment: Lattice degeneration is typically treated with laser to strengthen the retina in areas where it is weak. [theretinagroup.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]
Treatment: The medical and surgical treatments of ERD have to be tailored to the underlying condition. Inflammatory conditions, such as scleritis and Vogt-Koyanagi-Harada syndrome (VKH), should be treated with anti-inflammatory agents. [medigoo.com]
Prognosis
RESULTS: 24 eyes only were operated for retinal detachment because of very poor prognosis in the remaining 10 eyes. Bilaterality of retinal detachment was seen 40%. [evrs.eu]
So we thought that vitrectomy and long-term intraocular tamponade for primary operation would increase success rate and improve postoperative visual prognosis. [iovs.arvojournals.org]
The poor prognosis in our patients may be due to a higher prevalence of complex detachments as well as poor visualisation of the retina. [nature.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]
Although the retina was successfully surgically reattached, the visual prognosis is guarded because of the chronicity of the macular detachment. [e-tjo.org]
Etiology
These findings indicate that the most probable etiology of bilateral congenital retinal detachment of the patient was hereditary X-linked retinoschisis. Surgery for retinal detachment of the fellow eye was not successful. [ncbi.nlm.nih.gov]
They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]
Diagnosis: Although the diagnosis of an ERD can usually be made clinically, the underlying etiology may be difficult to elucidate. [medigoo.com]
International The most common worldwide etiologic factors associated with retinal detachment are myopia (ie, nearsightedness), aphakia, pseudophakia (ie, cataract removal with lens implant), and trauma. [emedicine.medscape.com]
To evaluate the efficacy of vitrectomy and etiological diagnosis in the treatment of fungal endophthalmitis. [pubfacts.com]
Epidemiology
We discuss the epidemiology of pediatric rhegmatogenous retinal detachment, review the genetic syndromes associated with a high incidence of retinal detachment, and examine other common causes of retinal detachment in this age group. [jhu.pure.elsevier.com]
"Epidemiological study of nontraumatic phakic rhegmatogenous retinal detachment". Ophthalmic Res. 32 (5): 237–39. doi : 10.1159/000055619. PMID 10971186. Li X (2003). [en.wikipedia.org]
Epidemiology of retinal detachment. Arch Ophthalmol. 1982 Feb. 100(2):289-92. [Medline]. Subramanian ML, Topping TM. Controversies in the management of primary retinal detachments. Int Ophthalmol Clin. 2004 Fall. 44(4):103-14. [Medline]. [emedicine.medscape.com]
Epidemiology [ 3, 4, 5 ] Retinal detachment has an annual incidence of 10-15 per 100,000 people. Incidence increases with advancing age. Lifetime risk is estimated to be 3% at 85 years of age. Average age of presentation is 60 years. [patient.info]
Pathophysiology
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]
Pathophysiology Eye anatomy is shown in the image below. Anatomy of the eye. Retinal detachment refers to separation of the inner layers of the retina from the underlying retinal pigment epithelium (RPE, choroid). [emedicine.medscape.com]
Read More Familial Exudative Vitreoretinopathy: Pathophysiology, Diagnosis, and Management. Asia Pac J Ophthalmol (Phila) 2018 May-Jun;7(3):176-182. Epub 2018 Apr 9. [pubfacts.com]
Regardless of the source of fluid and exact pathophysiologic mechanism of ODP-M, a sequence of retinal fluid accumulation and progression of its formation has been described by Lincoff et al. [ 17 ], which is generally accepted [ 1, 10, 19 ]. [journalretinavitreous.biomedcentral.com]
Prevention
As Stickler syndrome is related to a genetic abnormality, there is no known primary prevention. [eyewiki.aao.org]
Symptomatic retinal breaks may be surrounded with laser or cryogenic burns to create a chorioretinal scar that prevents fluid access into the subretinal space. This treatment is over 95% effective in preventing progression of retinal tear to RD. [patient.info]
The poor results of detachment surgery were related to opacites in the media preventing evaluation of the renal details and the development of massive preretinal retraction. [bjo.bmj.com]
It doesn’t begin to make it on the radar of things to worry about until you are in the double digits with myopia (which you never should be, under any circumstances, with just basic preventative steps). [endmyopia.org]
Prevention Retinal tears cannot be prevented. Prompt attention to symptoms such as floaters and light flashes in the eye can sometimes prevent a retinal tear from developing into a detachment. [encyclopedia.com]