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Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis

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Personalized pediatric ophthalmology: a case report.

Lillian K To¹, Parth R Shah¹, Hannah L Scanga¹

¹UPMC Eye Center, UPMC Children's Hospital of Pittsburgh, and University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.

Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus

|May 27, 2019

Summary

This summary is machine-generated.

A toddler with neurological symptoms and a mitochondrial DNA variant was diagnosed with a rare RB1 gene mutation. This case highlights the complexities of personalized medicine in pediatric ophthalmology and rare disease diagnosis.

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Area of Science:

Genetics
Pediatric Ophthalmology
Neurology

Background:

Personalized medicine is advancing diagnosis and treatment across various medical fields.
Its application in pediatric ophthalmology remains less explored, particularly in complex pediatric cases.
Genetic sequencing offers powerful tools for understanding disease mechanisms.

Observation:

A toddler presented with ataxia, opsoclonus, myoclonus, and developmental regression post-anesthesia.
Initial genetic testing revealed an MT-ND6 gene variant (m.14484T>C), typically linked to Leber hereditary optic neuropathy.
The child's phenotype more closely resembled Leigh syndrome.

Findings:

Whole exome sequencing identified an unexpected intronic missense mutation in RB1 (1960+5G>A).
This RB1 mutation has a 90% penetrance for retinoblastoma.
No posterior pole lesions were initially detected during clinical examination.

Implications:

The case underscores the challenges in correlating genotype with phenotype in rare pediatric diseases.
It emphasizes the critical role of advanced genetic sequencing in uncovering unexpected diagnoses.
The discussion highlights the careful consideration of risks and benefits in personalized medicine, particularly for pediatric patients requiring examination under anesthesia.