Strabismus in the Marfan Syndrome

Izquierdo, Natalio J.; Traboulsi, Elias I.; Enger, Cheryl; Maumenee, Irene H.

doi:10.1016/s0002-9394(14)70069-8

Cited by 80 publications

(75 citation statements)

References 8 publications

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“…Cataract and glaucoma also develop more frequently in MFS patients and could be accelerated by the presence of ectopia lentis (5). Lastly, strabismus, although more commonly seen in LDS, is also observed and might cause the development of amblyopia (24).…”

Section: Ocular Featuresmentioning

confidence: 99%

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome

Meester

Verstraeten

Schepers

et al. 2017

Ann. Cardiothorac. Surg.

219

184

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Many different heritable connective tissue disorders (HCTD) have been described over the past decades.These syndromes often affect the connective tissue of various organ systems, including heart, blood vessels, skin, joints, bone, eyes, and lungs. The discovery of these HCTD was followed by the identification of mutations in a wide range of genes encoding structural proteins, modifying enzymes, or components of the In contrast, no association is reported between LDS and the presence of ectopia lentis, a key distinguishing feature of MFS. Overlapping features between MFS and LDS include scoliosis, pes planus, anterior chest deformity, spontaneous pneumothorax, and dural ectasia. EDS refers to a group of clinically and genetically heterogeneous connective tissue disorders and all subtypes are characterized by variable abnormalities of skin, ligaments and joints, blood vessels, and internal organs. Typical presenting features include joint hypermobility, skin hyperextensibility, and tissue fragility. Up to one quarter of the EDS patients show aortic aneurysmal disease. The latest EDS nosology distinguishes 13 subtypes. Many phenotypic features show overlap between the different subtypes, which makes the clinical diagnosis rather difficult and highlights the importance of molecular diagnostic confirmation.

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Section: Ocular Featuresmentioning

confidence: 99%

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome

Meester

Verstraeten

Schepers

et al. 2017

Ann. Cardiothorac. Surg.

219

184

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show abstract

“…O estrabismo é mais prevalente em pacientes com Síndro-me de Marfan do que na população geral (8) . Foi realizado um estudo de 573 pacientes portadores de Síndrome de Marfan objetivando avaliar a ocorrência de estrabismo, erros de refração e ambliopia (8) .…”

Section: Discussionunclassified

“…Foi realizado um estudo de 573 pacientes portadores de Síndrome de Marfan objetivando avaliar a ocorrência de estrabismo, erros de refração e ambliopia (8) . Destes pacientes, 19,2% apresentaram estrabismo, sendo a exotropia (11,7%) o tipo mais comum, seguido da esotropia (2,1%).…”

Section: Discussionunclassified

“…A prevalência de todos os tipos de glaucoma é maior em pacientes com Síndrome de Marfan do que na população geral, sendo o glaucoma primário de ângulo aberto o tipo mais freqüente (9) . A ocorrência de glaucoma é de aproximadamente 5% (9) . Foi observado catarata unilateral em um paciente, e não foi observado glaucoma em nenhum paciente (Figura 4).…”

Section: Discussionunclassified

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Anomalias oculares e características genéticas na síndrome de Marfan

Sallum¹,

Chen²,

Perez³

2002

Arq. Bras. Oftalmol.

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Objetivo: Para se identificar as alterações oculares presentes na síndrome de Marfan, este trabalho apresenta a avaliação oftalmológica de 46 indivíduos portadores desta doença. Métodos: Estudo prospectivo com avaliação clínica de 46 pacientes portadores de síndrome de Marfan com avaliação oftalmológica completa. Dezessete pacientes também foram submetidos a exame genético clínico e estudo molecular. Resultados: Dos quarenta e seis pacientes incluídos neste estudo, as seguintes alterações oculares foram encontradas com maior freqüência: subluxação do cristalino (67,3%), hipoplasia de íris (23,9%), descolamento de retina (7,6%), córnea plana (2,2%), megalocórnea (2,2%) e miopia ou astigmatismo miópico (34,8%). Cinco pacientes (10,9%) apresentaram exame ocular normal em ambos os olhos. Detectou-se uma mutação patogênica distinta das relatadas na literatura em uma paciente, uma mutação de sentido trocado que ocorreu no éxon 28 levando à mudança de aminoácido C1166Y. Conclusões: As alterações oculares da síndrome de Marfan são freqüen-tes e o conhecimento do gene responsável FBN-1 e de sua expressão no olho auxiliam para o diagnóstico e tratamento destas anomalias.

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“…LTBP2 is a known interactor of fibrillin 1, the protein mutated in Marfan syndrome (MFS) and other 'fibrillinopathies' , wherein ectopia lentis occurs in B50% of cases and glaucoma can be due to angle closure/pupil block. 45 Rarely, glaucoma in MFS can result from abnormalities in the trabecular meshwork, 46 and PCG due to primary trabeculodysgenesis may occur in the lethal neonatal MFS. 47 So far, both ocular manifestations and the presence/absence of other MFS-like features in LTBP2 defects appear variable and combinatorial.…”

Section: Population Genetics Of Pcg In Gypsiesmentioning

confidence: 99%

LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population

et al. 2010

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Primary congenital glaucoma (PCG) is a genetically heterogeneous autosomal recessive disorder, which is an important cause of blindness in childhood. The first known gene, CYP1B1, accounts for a variable proportion of cases in most populations. A second gene, LTBP2, was recently reported in association with a syndrome, in which glaucoma is secondary to lens dislocation. We report on the molecular and clinical profile of 34 families diagnosed as PCG, all originating from the Roma/ Gypsy founder population. Comprehensive sequencing analysis revealed a level of heterogeneity unusual for this population, with five CYP1B1 and one ancestral LTBP2 mutation accounting for B70% of patients (25 out of 37) and the remainder still unexplained. Homozygosity for the founder LTBP2 p.R299X mutation resulted in a more severe clinical phenotype and poorer outcome despite a markedly higher number of surgical interventions. The genetically homogeneous group of p.R299X homozygotes showed variable phenotypes (presumably also underlying pathogenetic mechanisms), wherein PCG proper with primary dysgenesis of the trabecular meshwork, and Marfan syndrome-like zonular disease with ectopia lentis and later onset secondary glaucoma are two extremes. The spectrum manifestations may occur in different combinations and have a different evolution even within the same sibship or a single patient. Preliminary observations on compounds with mutations in both CYP1B1-LTBP2 suggest that the observed combinations are of no clinical significance and digenic inheritance is unlikely. We provide a population genetics perspective to explain the allelic heterogeneity, comparing the history and geographic distribution of the two major founder mutations -p.R299X/LTBP2 and p.E387K/CYP1B1.

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Strabismus in the Marfan Syndrome

Cited by 80 publications

References 8 publications

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome

Anomalias oculares e características genéticas na síndrome de Marfan

LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population

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