Multisegment coloboma in a case of Marfan syndrome: another possible effect of increased TGFβ signaling

LeBlanc, Shannon; Taranath, Deepa; Morris, Scott; Barnett, Christopher

doi:10.1016/j.jaapos.2013.10.017

Cited by 6 publications

(7 citation statements)

References 7 publications

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“…Apart from ocular defects, lens coloboma might be one of the manifestations of systemic diseases, including Marfan syndrome and Marshall syndrome 4–6. Several case reports have shown the association between Marfan syndrome and lens coloboma, and it is postulated that increased transforming growth factor β might be the link behind this 5. In our case, the patient had lens coloboma without an accompanying congenital cataract, and no other systemic diseases were noted.…”

Section: Discussionmentioning

confidence: 45%

Lens coloboma treated with lens surgery

Wang

2015

BMJ Case Reports

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A 5-year-old boy was referred to our clinic due to an abnormal visual acuity test at school. His corrected visual acuity was counting fingers in the left eye. A nasal side deficiency of the lens substituted by a membrane was found. Lens coloboma was diagnosed. After making a 3 mm limbal incision, the colobomatous lens was removed by anterior continuous curvilinear capsulorhexis and lens aspiration. Posterior capsulorhexis and anterior vitrectomy on the side of the lens was performed to prevent posterior capsular or anterior hyaloid opacity. As the defect in the lens was very large, intracapsular placement of an intraocular lens was not feasible. A three-piece acrylic soft intraocular lens was placed in the ciliary sulcus. Since amblyopia was diagnosed by poor corrected visual acuity as 20/800 1 month after the operation, occlusion therapy with correcting eyeglasses was started at 6 h a day on the contralateral eye. The patient's corrected visual acuity improved to 20/125 7 months after the operation.

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Section: Discussionmentioning

confidence: 45%

Lens coloboma treated with lens surgery

Wang

2015

BMJ Case Reports

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“…[9][10][11] Other reports failed to mention the genetic mutation observed or the presence of aortic root dilation. 12 Thus, to our knowledge, this report describes the first case of infantile aortic root dilatation in classical MFS.…”

Section: Discussionmentioning

confidence: 68%

Severe aortic root dilatation in infantile Marfan syndrome

Thomas

Anyanwu

Blazo

et al. 2019

Baylor University Medical Center Proceedings

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Cardiovascular manifestations of Marfan syndrome are associated with increased mortality, especially in the pediatric population. Early recognition is critical to long-term management. We present two cases of genetically defined "classical" Marfan syndrome presenting with severe infantile aortic root dilatation among siblings and discuss options for therapy. KEYWORDS Aortic valve dilatation; classical Marfan syndrome; FBN1; fibrillin; neonatal Marfan syndrome T he "classic" Marfan syndrome (MFS) is an inherited autosomal dominant systemic connective tissue disorder affecting 2 to 3 per 10,000 individuals. [1][2][3][4] Mutations in the FBN1 gene, which is located on chromosome 15 and encodes the extracellular matrix glycoprotein fibrillin-1, are the genetic basis for its pathology. Cardinal manifestations of MFS involve the musculoskeletal, pulmonary, ocular, integumentary, and cardiovascular systems. Variability in severity and phenotypic presentation makes MFS a diagnostic challenge. Despite advancements in diagnostic capabilities and greater usage of genetic testing, there is a high degree of variability in the phenotypic manifestation of MFS in individuals (Table 1). 5 We report two siblings with infantile MFS with varying presentation and severe changes in cardiac morphology.

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“…Lens coloboma has been associated with Marfan syndrome in many case reports in the literature. The elevated levels of transforming growth factor β might be responsible for this [ 5 ]. In the presenting case, there was unilateral lens coloboma in the right eye with congenital cataract leading to amblyopia.…”

Section: Discussionmentioning

confidence: 99%

Unilateral Lens Coloboma With Congenital Cataract: A Case Report From Central India

Pattebahadur,

Singh,

Bang

2023

Cureus

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A ten-year-old male child was referred with complaints of blurring of vision and deviation of the eye. On examination, the right eye has an esodeviation squint with a best corrected visual acuity of 6/60 Snellen's acuity and 6/6 Snellen's acuity in the left eye. Slit-lamp biomicroscope of the right eye showed coloboma at the 9 o'clock position with cataract. The rest of the anterior and posterior segments was normal in both eyes. Thus, a diagnosis of unilateral lens coloboma with amblyopia was made.

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Multisegment coloboma in a case of Marfan syndrome: another possible effect of increased TGFβ signaling

Cited by 6 publications

References 7 publications

Lens coloboma treated with lens surgery

Lens coloboma treated with lens surgery

Severe aortic root dilatation in infantile Marfan syndrome

Unilateral Lens Coloboma With Congenital Cataract: A Case Report From Central India

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