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Autosomal Recessive Isolated Ectopia Lentis 2

Ectopia Lentis Syndrome


Presentation

  • Diagram of ADAMTSL4 and Its IsoformsDiagramatic presentation of ADAMTSL4, ADAMTSL4 and its two isofothe position of the identified mutation that is present in the twodomain.funds from The Shafallah Center for Children with Special Needsand its sibling[docslide.com.br]
  • Patients with ectopia lentis commonly present with a marked loss in visual acuity in addition to a number of possibly accompanying ocular complications including cataract, myopia, and retinal detachment.[scicrunch.com]
  • However, a few families with dislocated lenses have been reported in which no evidence of defective collagen is present. The lens is most commonly displaced temporally, often creating myopic astigmatism.[disorders.eyes.arizona.edu]
  • Patients with ectopia lentis commonly present with a marked loss in visual acuity that varies with the degree of lens subluxation in addition to a number of possibly accompanying ocular complications including cataract, myopia, retinal detachment, and[cags.org.ae]
Arthritis
  • The ADAMTS super-family is involved in various biological processes includingconnective tissue organization, coagulation, inammation,arthritis, angiogenesis, and cell migration.22 Mutations inADAMTS10 (MIM 608990) have been implicated in theautosomal-recessiveWeill-Marchesani[docslide.com.br]
  • Stickler syndrome Autosomal dominant Connective tissue disorder Myopia Cataract Retinal detachment Hearing loss Conductive Sensorineural Midfacial hypoplasia Cleft palate Alone Part of the Robin sequence Mild spondyloepiphyseal dysplasia Precocious arthritis[medicinman.cz]
Strabismus
  • Expert guidance on the complete spectrum of childhood eye disorders and strabismus, including a unique "practical problems" section designed to help you handle difficult patient situations.[books.google.de]
  • Vision can be normal but nystagmus and strabismus have been noted in other patients. The lenses may be dislocated superiorly and may contain opacities.[disorders.eyes.arizona.edu]
  • J Pediatr Ophthalmol Strabismus. 1985;22:129–32. PubMed Google Scholar 73. Harrison DA, Mullaney PB, Mesfer SA, Awad AH, Dhindsa H. Management of ophthalmic complications of homocystinuria. Ophthalmology. 1998;105:1886–90.[link.springer.com]
  • Strabismus 22, 227230.10. Noble, K.G., Bass, S., and Sherman, J. (1993). Ectopia lentis,chorioretinal dystrophy and myopia. A new autosomal reces-sive syndrome. Doc. Ophthalmol. 83, 97102.11. Cruysberg, J.R., and Pinckers, A. (1995).[docslide.com.br]
  • Basic and Clinical Science Course, Section 6: Pediatric Ophthalmology and Strabismus. San Francisco: American Academy of Ophthalmology; 2014 Picker JD, Levy HL (Updated [March 29 2006]).[eyewiki.org]
Blurred Vision
  • Symptoms of lens dislocation include: Nearsightedness (myopia) Astigmatism (blurred vision due to an irregularity in the curvature of the front surface of the eye, the cornea) Fluctuating or blurred vision To learn more about Ectopia Lentis syndrome and[marfan.org]
  • Affected individuals often have nearsightedness (myopia) and can have an irregular curvature of the lens or a structure that covers the front of the eye (the cornea), which causes blurred vision (astigmatism).[ghr.nlm.nih.gov]
  • She originally presented to her local ophthalmologist with complaints of blurred vision of gradual onset; she had last been checked for glasses 2 years earlier.[glaucomatoday.com]
Pupillary Abnormality
  • There were no areas of iris atrophy, pupillary abnormalities, or iris transillumination in any of the 18 patients examined or their relatives.[cags.org.ae]
Impulsivity
  • The lens is the transparent structure inside the eye that focuses light rays onto the retina (the nerve layer that lines the back of the eye, senses light, and creates impulses that go through the optic nerve to the brain).[marfan.org]
Nystagmus
  • Vision can be normal but nystagmus and strabismus have been noted in other patients. The lenses may be dislocated superiorly and may contain opacities.[disorders.eyes.arizona.edu]
  • Most common symptoms of ISOLATED ECTOPIA LENTIS Nystagmus Cataract Cognitive impairment Visual impairment Hypertension More info about ISOLATED ECTOPIA LENTIS SOURCES: ORPHANET UMLS ICD10 Potential gene panels for ADAMTSL4 gene ADAMTSL4 Panel By Institute[mendelian.co]
Tremulousness
  • All patients in both families had normal clear corneas and deep anterior chambers with tremulous irides. There were no areas of iris atrophy, pupillary abnormalities, or iris transillumination in any of the 18 patients examined or their relatives.[cags.org.ae]
  • In younger children less cooperative with a slit lamp examination, examination with a penlight may demonstrate tremulousness of the iris (iridodonesis) [14] Grading systems for ectopia lentis have been proposed to facilitate and standardize studies, as[eyewiki.aao.org]

Workup

  • Metabolic workups revealed normal bicarbonate and ammonia levels, and a normal level of plasma uric acid 5.6 mg/dl (normal reference 2.4-7.2).[ojrd.biomedcentral.com]

Treatment

  • Treatment Treatment Options: Lens removal may be indicated when vision cannot otherwise be corrected. References References Chandra A, Aragon-Martin JA, Sharif S, Parulekar M, Child A, Arno G.[disorders.eyes.arizona.edu]
  • State-of-the-art coverage of key areas such as OCT and all of the newest imaging techniques for the eye, orbit and visual pathways; anti-VEGF treatment for retinopathy of prematurity; and minimally invasive strabismus surgery.[books.google.de]

Prognosis

  • Prognosis An individual’s prognosis depends on any underlying ocular or systemic disease, the degree of subluxation, and the management strategy pursued.[eyewiki.aao.org]
  • […] subluxation, indications for lens extraction as delineated by Nemet et al [6] include: Lens edge bisecting the pupil with impossible optical correction Lens dislocation into the vitreous cavity Anterior displacement with secondary glaucoma Cataract formation Prognosis[eyewiki.org]
  • Thus, these two proteins might be the important molecular biomarkers for predicting NPC metastasis and prognosis.[oncotarget.com]
  • The prognosis of hyperlysinemia: an interim report. Am J Hum Genet. 1983;35:438–42. PubMed PubMedCentral Google Scholar 66. Shawaf S, Noureddin B, Khouri A, Traboulsi EI.[link.springer.com]

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.de]
  • As ectopia lentis may be the first sign of a more serious systemic disease, it is important to determine the etiology for appropriate patient management.[eyewiki.aao.org]
  • Reported cases in the literature of angle closure in the setting of high myopia (excluding those due to inflammation or contracting membranes) include a number of possible etiologies such as primary pupillary block, plateau iris, malignant glaucoma after[glaucomatoday.com]

Epidemiology

  • […] not of a reflected but of an intrinsic lustre, as does a candle or the sun.” [2] Though not credited with the condition’s namesake, the ophthalmologist Whilliams gave a complete description of the syndrome 20 years before Antoine Marfan in 1876. [3] Epidemiology[eyewiki.org]
  • Although no clear epidemiological data is available, it has been suggested that congenital EL may have a prevalence of six per 100 000. 22 It is probable that the second most common cause of EL is a condition termed isolated ectopia lentis (IEL). 22,[nature.com]
Sex distribution
Age distribution

Pathophysiology

  • De novo mutations in the FBN1 gene account for about 25-30% of diagnoses. [5] [6] Pathophysiology The cytogenic location of FBN1 is 15q21.1, which is the long arm of chromosome 15 (Fig 1).[eyewiki.org]

Prevention

  • Similar to isolated ectopia lentis, the ADAMTSL4 gene mutations that cause ectopia lentis et pupillae lead to decreased production of microfibrils or the formation of impaired microfibrils, which prevents the proper anchoring of certain structures in[ghr.nlm.nih.gov]
  • In order to prevent complications secondary to aortic root dilation, B-blockers are most often employed for both children and adults, unless there is a specific contraindication.[eyewiki.org]
  • In all cases, timely optical correction is important for prevention of amblyopia.[eyewiki.aao.org]
  • Congenital EL remains stable from early childhood and is strongly associated with FBN1 mutations, which strongly supports the MFS diagnosis and can be used to provide preventive treatment for atypical and childhood patients with MFS.[molvis.org]
  • Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science. 2006;312:117–21. CrossRef PubMed PubMedCentral Google Scholar 35. Matt P, Habashi J, Carrel T, Cameron DE, Van Eyk JE, Dietz HC.[link.springer.com]

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