All patients developed bilateral cataract before the age of 40 years, and two patients presented with intermittent acute intraocular hypertensive crises. [scienceopen.com]

This article presents a clinical case of a patient with ectopia lentis et pupillae, describing its clinical and genetic aspects, secondary ocular complications and differential diagnosis.Sociedade Brasileira de Oftalmologia2011-06-01info:eu-repo/semantics [oasisbr.ibict.br]

The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

A 27-year-old man presented with complaint of low visual acuity. No evidence of the syndrome was found at presentation. The results of supplementary tests were normal. [ncbi.nlm.nih.gov]

Type your tag names separated by a space and hit enter Abstract A rare case of congenital bilateral ectopia lentis et pupillae (ELEP) is reported in a 32 year old female presenting with complaints of diminution of vision in both eyes. [unboundmedicine.com]

• Anemia

  Search Engine If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL THROMBOCYTOPENIA WITH CONGENITAL DYSERYTHROPOIETIC ANEMIA [mendelian.co]

  Clinical: Necrolytic migratory erythema; diabetes; hypoaminoacidemia and hyperglucagonemia secondary to alpha-cell islet tumor of pancreas; anemia; glossitis; weight loss; angular stomatitis; onycholysis; diarrhea; monochromic monocytic anemia; recurrent [uchebana5.ru]

• Vascular Disease

  Master the latest advances in ophthalmology: radical changes in the management of macular disease, including the widespread introduction of VEGF inhibitor therapy; recent developments in the investigation and treatment of retinal vascular disease; new [books.google.ro]

• Pupillary Abnormality

  Our study presented detailed clinical manifestations, including some novel ophthalmic findings, such as pupillary abnormality, different types of glaucoma, and progressive hyperopia. [ncbi.nlm.nih.gov]

  Professor, Ulucanlar Eye Training and Research Hospital, Ankara/TURKEY Ectopia lentis et pupillae is a rare congenital hereditary disorder usually characterized with a combination of ectopia lentis and pupillary abnormalities, but without systemic manifestations [glaucomacataractjournal.com]

  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]

  Combined neuroectodermal and mesodermal origin is being postulated for this syndrome on the basis of aforesaid abnormalities and presence of pupillary dilator muscle hypoplasia, "annular endotheliopathy", and persistent pupillary membrane in both eyes [ijo.in]

• Blepharoptosis

  Ocular Associations  Persistent pupillary membrane  Aniridia  Rieger’s syndrome  Dominantly inherited blepharoptosis  High myopia  Congenital glaucoma/buphthalmos  Pseudoexfoliation  Retinitis pigmentosa  Hypermature cataract  Intraocular tumor [slideshare.net]

  Dominantly inherited blepharoptosis, high myopia and ectopia lentis. Arch Ophthalmol 1982; 100:282-284. McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. [uchebana5.ru]

• Arthralgia

  Clinical: Patients may have arthralgias, seizures, episodes of tetany, muscular weakness, or paresthesia; also may be asymptomatic. Al-Ghamdi SM, Cameron EC, Sutton RA. Magnesium deficiency: pathophysiologic and Clinical review. [uchebana5.ru]

• Seizure

  Seizures or abnormal movements were prominent features in all cases. Developmental delays were reported in 17 cases. Ectopia lentis was detected in 9 cases. [pediatrics.aappublications.org]

  Seizures were controlled on a combination of carbamazepine and clobazam. [annalsofian.org]

  Patients typically have fair skin with coarse hair, osteoporosis, mental retardation (nearly 50%), seizure disorder, marfanoid habitus, and poor circulation. [emedicine.medscape.com]

  Clinical: Patients may have arthralgias, seizures, episodes of tetany, muscular weakness, or paresthesia; also may be asymptomatic. Al-Ghamdi SM, Cameron EC, Sutton RA. Magnesium deficiency: pathophysiologic and Clinical review. [uchebana5.ru]

  […] of metabolism of sulfur containing amino acids  Near absence of cystathionine b-synthetase (the enzyme that converts homocysteine to cystathionine)  Salient features:  Fair skin with coarse hair  Osteoporosis  Mental retardation (nearly 50%)  Seizure [slideshare.net]

• Irritability

  Ocular: Ocular irritation; itching of the eye; decreased visual acuity; increased mucous production; papillary changes of the upper tarsal conjunctiva; contact lens coatings; may appear after a lens change from one style to another or by replacement of [uchebana5.ru]

  An ultrastructural study of the lens from a patient with the Weill–Marchesani syndrome revealed degeneration and necrosis of the epithelial cells and destruction of cortical fibers, which was thought to result, in part, from the trauma and irritation [entokey.com]

An overview Signs and Symptoms Etiology of ectopia lentis Workup and evaluation Treatment Low Vision Management Conculsion Reference Workup and evaluation Sharma IP 34. Detailed history History of ocular trauma. [slideshare.net]

Twenty-four people presented for complete ophthalmological workups. In addition, complete detailed clinical examinations including echocardiography could be performed in six people ( Table 1 ). All mutation carriers showed ocular involvement only. [molvis.org]

The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

An overview Signs and Symptoms Etiology of ectopia lentis Workup and evaluation Treatment Low Vision Management Conculsion Reference Treatment Sharma IP 40. [slideshare.net]

Ectopia Lentis et Pupillae Syndrome: Treatment Treatment depends on how far the lens has been dislocated out of place. [study.com]

At the time of writing this report (3 months postoperatively), the IOP was 21 mmHg with treatment of g timolol 0.25% b.d. and g latanoprost o.n. [nature.com]

ADDITIONAL TREATMENT General Measures • Correction of refractive error ( 1 ). – Treatment of amblyopia if present. Issues for Referral • Genetic consultation. – Cardiology as indicated. – Metabolics consultation as indicated. [entokey.com]

Diagnosis of the ectopia lentis et pupillae is fundamental not only to evaluate the risk, prognosis and treatment, but also to assist in differentiating other syndromes with systemic impairment. [ncbi.nlm.nih.gov]

Treatment and prognosis Complications An anterior dislocation/subluxation carries greater complications than a posterior one. Such complications include: acute glaucoma corneal injury iridal injury Promoted articles (advertising) [radiopaedia.org]

Prognosis - Ectopia lentis isolated Not supplied. Treatment - Ectopia lentis isolated Not supplied. Resources - Ectopia lentis isolated Not supplied. [checkorphan.org]

PROGNOSIS • Good visual prognosis with early intervention and routine follow-up. • Even in patients requiring lensectomy most achieve vision of 20/40 or better ( 1 ). – If not complicated by untreated amblyopia. [entokey.com]

Prognosis Depending on the degree of lens dislocation, the age of onset, and its associated secondary complications, most patients do well. [emedicine.medscape.com]

An overview Signs and Symptoms Etiology of ectopia lentis Workup and evaluation Treatment Low Vision Management Conculsion Reference Etiology of ectopia lentis Sharma IP 16. [slideshare.net]

Pathology Etiology trauma systemic and syndromic disorders Marfan syndrome typically upwards and out most common spontaneous cause 2 homocystinuria - typically downwards Weil-Marchesani syndrome Ehlers-Danlos syndrome hereditary (or isolated) ectopia [radiopaedia.org]

Mortality/Morbidity Ectopia lentis may cause marked visual disturbance, which varies with the degree of lens displacement and the underlying etiologic abnormality. [emedicine.medscape.com]

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]

Epidemiology Frequency United States Ectopia lentis is a rare condition. Incidence in the general population is unknown. The most common cause of ectopia lentis is trauma, which accounts for nearly one half of all cases of lens dislocation. [emedicine.medscape.com]

EPIDEMIOLOGY Incidence • Marfan disease 4–6/100,000 births ( 1 ) and approximately 60–75% have ectopia lentis. • Homocystinuria 1/200,000 births ( 1 ) and approximately 80–85% have ectopia lentis. Prevalence Unknown. [entokey.com]

Epidemiology Frequency  A rare condition.  Incidence in the general population is unknown. Mortality/Morbidity  Can cause marked visual disturbance, depending the degree of lens displacement and the underlying etiology Sex  More common in males. [slideshare.net]

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]

Pathophysiology Disruption or dysfunction of the zonular fibers of the lens, regardless of cause (trauma or heritable condition), is the underlying pathophysiology of ectopia lentis. [emedicine.medscape.com]

Pathophysiology  Underlying pathophysiology - Disruption or dysfunction of the zonular fibers of the lens, regardless of cause (trauma or heritable condition)  The degree of zonular impairment determines the degree of lens Sharma IP 10. [slideshare.net]

PATHOPHYSIOLOGY Weakening or stretching of the zonular attachments lens ( 1 ). [entokey.com]

A recent study of over thousand probands with Marfan syndrome and FBN1 mutations demonstrated a striking correlation between ectopia lentis and mutations affecting cysteine residues, leading to the speculation that the pathophysiology of ectopia lentis [molvis.org]

Magnesium deficiency: pathophysiologic and Clinical review. Am J Kidney Dis 1994; 24:737-752. Bourcier T, et al. Sclerochoroidal calcification associated with Gitelman syndrome. Am J Ophthalmol 1999; 128: 767-768. [uchebana5.ru]

And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

Prevention - Ectopia lentis isolated Not supplied. Diagnosis - Ectopia lentis isolated signs and symptoms of Ectopia lentis, isolated may vary on an individual basis for each patient. [checkorphan.org]

The bag-in-the-lens intra-ocular lens technique was used to accommodate this small ill-suspended capsule and to prevent secondary cataract formation in this young child. [escrs.org]

Prevent and plan for complications in advance by examining over 1,600 illustrations, photos and graphics (1,250 in color) capturing essential diagnostics techniques, imaging methods and surgical approaches. [books.google.ro]

Prevention and prognsis Deterrence/Prevention  Early diagnosis of ectopia lentis with appropriate optical correction can prevent amblyopia. [slideshare.net]