Anterior lenticular opacities in Costello Syndrome

Thakur, Anchal; Thakur, Vishal; Choudhary, Tripti; Mahajan, Rahul; Kulshrestha, Ashish; Gupta, Amit

doi:10.1016/j.ajoc.2021.101036

Cited by 2 publications

(1 citation statement)

References 9 publications

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“…Recently, bilateral anterior capsular plaque and anterior lenticular opacities were described in a CS patient, suggesting the necessity of accurate anterior chamber examination. 90 …”

Section: Core and Ancillary Medical Specialties In Pediatric Age: Com...mentioning

confidence: 99%

Multidisciplinary Management of Costello Syndrome: Current Perspectives

Leoni¹,

Viscogliosi²,

Tartaglia³

et al. 2022

JMDH

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Costello syndrome (CS) is a rare neurodevelopmental disorder caused by germline mutations in HRAS . It belongs among the RASopathies, a group of syndromes characterized by alterations in components of the RAS/MAPK signaling pathway and sharing overlapping phenotypes. Its typical features include a distinctive facial appearance, growth delay, intellectual disability, ectodermal, cardiac, and musculoskeletal abnormalities, and cancer predisposition. Due to the several comorbidities having a strong impact on the quality of life, a multidisciplinary team is essential in the management of such a condition from infancy to adult age, to promptly address any detected issue and to develop appropriate personalized follow-up protocols and treatment strategies. With the present paper we aim to highlight the core and ancillary medical disciplines involved in managing the health challenges characterizing CS from pediatric to adult age, according to literature and to our large clinical experience.

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“…Recently, bilateral anterior capsular plaque and anterior lenticular opacities were described in a CS patient, suggesting the necessity of accurate anterior chamber examination. 90 …”

Section: Core and Ancillary Medical Specialties In Pediatric Age: Com...mentioning

confidence: 99%

Multidisciplinary Management of Costello Syndrome: Current Perspectives

Leoni¹,

Viscogliosi²,

Tartaglia³

et al. 2022

JMDH

View full text Add to dashboard Cite

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Fibrovascular pupillary membrane with persistent pupillary membranes initially suspected to be congenital cataract: a case report

Song¹,

Tang²

2023

Preprint

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Purpose: To report a case of fibrovascular pupillary membrane (FPM) accompanied with persistent pupillary membranes (PPM) initially misdiagnosed as congenital cataract. Case presentation: A 6-year-old boy, with a one-year history of poor visual acuity in his left eye, was diagnosed with congenital cataract in the outpatient department. The patient was admitted and underwent surgery during which a diagnosis of FPM accompanied with PPM was made which was different from the initial suspicion of congenital cataract. In this case, the FPM presented as a small area of opacity in the center of the anterior capsule of the lens in visual axis. Due to the lack of cooperation from the child, we could not conduct a complete examination preoperatively. During surgery, the opacity in his visual axis was removed and his natural lens was preserved. Conclusions: FPM is a relatively rare disease. Although the child may not show good cooperation, it is necessary to conduct a comprehensive examination of the anterior segment to make an accurate diagnosis, differential diagnosis and surgical planning. This case aims to create awareness of this disease.

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Anterior lenticular opacities in Costello Syndrome

Cited by 2 publications

References 9 publications

Multidisciplinary Management of Costello Syndrome: Current Perspectives

Multidisciplinary Management of Costello Syndrome: Current Perspectives

Fibrovascular pupillary membrane with persistent pupillary membranes initially suspected to be congenital cataract: a case report

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