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]

Observations : Two young Saudi brothers with a family history of consanguinity presented with the classic clinical presentation and genetic identification of FRAM. [pubfacts.com]

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]

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]

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

• Disability

  Please enable JS and disable any ad blocker [optometrytimes.modernmedicine.com]

  Ocular and systemic abnormalities are progressive and the rate of significant disability from blindness, hearing loss and crippling arthritis would be expected to increase with increasing age. [eyewiki.aao.org]

  Some children with De Morsier's Syndrome have normal intelligence, while others may be developmentally delayed, learning-disabled, or mentally retarded. [afb.org]

• Swelling

  The typical presentation is that of normal or slightly reduced visual acuity, marked disc swelling, and retinal hemorrhages largely confined to the posterior fundus. [medigoo.com]

  It may be caused by injury or inflammatory swelling of the retina, but most commonly occurs as an age-related event without any predisposing conditions. [afb.org]

• Strabismus

  CXLRS is typically diagnosed in males between the ages of 3 months and school age with symptoms that include crossed eyes (strabismus), abnormal eye movements (nystagmus) and “lazy eye” (amblyopia). [asrs.org]

  Retinal Detachment, Ultrasound Rhegmatogenous Retinal Detachment Surgical Procedures and Postoperative Cases Toxic Retinopathies; see also Light Toxicitiy Trauma (Injury) Tumors, Neoplasma Vascular Diseases (see also: Systemic Immunologic Diseases) Sclera Strabismus [atlasophthalmology.net]

  Symptoms include decreased visual acuity, but the initial clinical manifestation may be strabismus or leukocoria. [atlasrleye.com]

  Since the disease frequently affects the macula, or causes vitreous haemorrhage, the presenting features are poor vision, strabismus and nystagmus. The diagnosis is usually made in childhood. [ijo.in]

• Night Blindness

  It commonly begins as night blindness in childhood and gradually advances to increasing vision loss. Most people with this disorder are able to retain good vision until age 40 or 50. [afb.org]

  Some patients have early onset (2-4 years old) night blindness and progress to total blindness before 20 years of age. Nystagmus, strabismus, small optic discs, glaucoma, and cataracts have been reported. [disorders.eyes.arizona.edu]

• Aniridia

  People with aniridia are also at high risk for certain other eye conditions, such as glaucoma, nystagmus, and cataracts. [afb.org]

• Esotropia

  Pendular nystagmus and esotropia are common. MRI studies reveal optic nerves and the chiasm that are either absent or abnormally small. Systemic Features: This condition is nonsyndromic and has no systemic abnormalities. [disorders.eyes.arizona.edu]

• Nystagmus

  A nystagmus is a rhythmic (sometimes jerky) movement of the eyes. Congenital horizontal nystagmus refers to a movement which is in the horizontal plane (to the left and right) that is present at birth or found very early in life. — Dr. [allaboutvision.com]

  Nystagmus may be present at birth or, less commonly, may result from disease or injury. In some cases, the condition can reduce or interfere with vision. For example, children with nystagmus may frequently lose their place when reading. [afb.org]

  CXLRS is typically diagnosed in males between the ages of 3 months and school age with symptoms that include crossed eyes (strabismus), abnormal eye movements (nystagmus) and “lazy eye” (amblyopia). [asrs.org]

  Nystagmus, strabismus, small optic discs, glaucoma, and cataracts have been reported. Poor vision and progressive loss of acuity are common. [disorders.eyes.arizona.edu]

  Table 1 Characteristics of Early and Late groups In all, 12 patients (23.1%) had nystagmus. The cause of the cataract was unknown in 45 patients (86.5%). [nature.com]

See Overview and Workup for more detail. [emedicine.medscape.com]

Treatment Treatment Options: Low vision aids may be helpful in selected patients. [disorders.eyes.arizona.edu]

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]

Risk of Treatment: Lattice degeneration is typically treated with laser to strengthen the retina in areas where it is weak. [theretinagroup.com]

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]

Treatments for ODP-M Treatment for ODP-M is warranted as the majority of cases suffer gradual deterioration with significant visual loss [ 16 – 18 ]. [journalretinavitreous.biomedcentral.com]

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]

Prognosis As the retina is neuro-sensitive tissue, visual prognosis can be difficult to predict. Generally, a retinal detachment without macular involvement tends to have a better final visual prognosis. [emedicine.medscape.com]

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]

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 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]

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]