Molecular pathogenesis and management strategies of ectopia lentis

Chandra, Aman; Charteris, David G.

doi:10.1038/eye.2013.274

Cited by 52 publications

(44 citation statements)

References 67 publications

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“…La luxación del cristalino, preferentemente de posición inferonasal en homocistinuria, se generaría debido a cambios degenerativos en las fibras zonulares secundarias a la deficiencia de CBS (11). En la homocistinuria, el glaucoma puede presentarse hasta en 23% de casos, lo cual contrasta con otros síndromes a considerar en el diagnóstico diferencial como el síndrome de WeillMarchesani y el síndrome de Marfan que asocian glaucoma en 80% y 8% respectivamente (12).…”

Section: Discussionunclassified

Homocistinuria, una enfermedad metabólica de diagnóstico tardío en el Perú.

Cornejo‐Olivas¹,

Chávez-Pasco²,

Inca‐Martinez³

et al. 2015

Rev Neuropsiquiatr

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RESUMENLa Homocistinuria, es un desorden metabólico autosómico recesivo, cuya forma clásica es causada por deficiencia de cistationina β-sintasa, debido a mutaciones en el gen CBS (Cr 21q22.3). Se describe el caso de un varón de 17 años con hipopigmentación de piel y faneras, retraso psicomotor moderado, hábito marfanoide, miopía severa, subluxación del cristalino bilateral, que además presentó eventos psicóticos y una hemiparesia izquierda secundaria a un infarto lacunar. La determinación de homocisteína en plasma se encontró elevada (>9,9mg/dl), así como niveles altos de nitroprusiato de sodio en orina(4+) que confirmaron el diagnóstico clínico de homocistinuria. La homocistinuria clásica genera múltiples complicaciones a nivel dérmico, oftalmológico, cognitivo, osteoarticular y psiquiátrico; que podrían evitarse con un diagnóstico y tratamiento oportuno a través del tamizaje neonatal, aún no disponible en la mayoría de centros asistenciales en el Perú.PALABRAS CLAVE: Enfermedades metabólicas, hábito marfanoide, homocistinuria, Perú, diagnóstico tardío. SUMMARYHomocystinuria is an autosomal-recessive metabolic disorder whose classical phenotype is caused by a deficiency of cystathionine β-synthase, due to mutations within the CBS gene (Cr21q22.3). Herein we report a 17 year old man with hypopigmented skin and hair, mental retardation, marfanoid habitus, severe myopia, bilateral lens subluxation, psychotic episodes, and left-sided hemiparesis secondary to a lacunar brain infarction. Laboratory tests showed increased levels of homocysteine (>9.9mg/dl) in plasma and high levels of urinary sodium nitroprusside (4+), consistent with the clinical diagnosis of classical homocystinuria. This systemic disorder includes dermal, ophthalmic, cognitive, osteoarticular and psychiatric alterations, all of which could be potentially prevented with early diagnosis and therapy as part of newborn screening, which is still unavailable in Peru.

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Section: Discussionunclassified

Homocistinuria, una enfermedad metabólica de diagnóstico tardío en el Perú.

Cornejo‐Olivas¹,

Chávez-Pasco²,

Inca‐Martinez³

et al. 2015

Rev Neuropsiquiatr

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“…Both the forms show autosomal dominant (AD) inheritance [27]. However, some autosomal recessive (AR) families have also been described [28]. The condition is characterized with bilaterally symmetrical lens dislocations which can occur superotemporally or into the AC.…”

Section: Simple Ectopia Lentismentioning

confidence: 99%

“…In mild cases, ectopia lentis can be managed by spectacle or contact lens correction [28]. In some patients, a cycloplegic agent can be tried, which tightens the zonules and reduces the dislocation.…”

Section: Managementmentioning

confidence: 99%

Acute lens-induced glaucomas: A review

Ahmad¹

2017

JAD

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“…Other genes can cause EL in the absence of systemic abnormality, thus careful genetic investigation must be undertaken to achieve a definite diagnosis (9). Subluxation of the lens is usually bilateral and symmetrical.…”

Section: Ectopia Lentismentioning

confidence: 99%

Non-cardiac manifestations of Marfan syndrome

Child

2017

Ann. Cardiothorac. Surg.

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Because of the widespread distribution of fibrillin 1 in the body, Marfan syndrome (MFS) affects virtually every system. The expression of this single dominantly inherited gene is variable within a family, and between families. There is some genotype-phenotype correlation which is helpful in guiding long-term prognosis, and management. In general gene mutations have been reported in clusters, with those having mainly ocular manifestations occurring in exons 1 to 15 of this 65-exon gene; those causing cardiac problems often involving cysteine replacement in a calcium binding EGF-like sequence; the most severe mutations occurring in exons 25-32, causing neonatal MFS diagnosed at birth, and severe enough to cause death frequently before the age of 2. Other correlations will certainly be found in future. This condition is progressive, and the manifestations unfold according to age. For example, if the lens is going to dislocate this usually occurs by age 10; scoliosis usually presents itself between the ages of 8 and 15; height should be monitored carefully between the onset of puberty and cessation of growth approximately age 17 or 18. Holistic care should be offered by one doctor who oversees the patient's welfare. This should be a paediatrician, paediatric cardiologist, or general practitioner in the case of an affected child. Thereafter, the physician in charge of the most seriously affected system should be aware that other systems need to be managed through a referral network.

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Molecular pathogenesis and management strategies of ectopia lentis

Cited by 52 publications

References 67 publications

Homocistinuria, una enfermedad metabólica de diagnóstico tardío en el Perú.

Homocistinuria, una enfermedad metabólica de diagnóstico tardío en el Perú.

Acute lens-induced glaucomas: A review

Non-cardiac manifestations of Marfan syndrome

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