Iberoamerican Journal of Medicine
https://iberoamjmed.com/article/doi/10.53986/ibjm.2023.0006
Iberoamerican Journal of Medicine
Case Report

Pierre Robin sequence and keratoconus, a rare association

Síndrome de Pierre Robin y quearotocono, una rara asociación

Jorge Hernández-Cerdá, Víctor Alegre-Ituarte, Samuel González-Ocampo

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Abstract

Pierre Robin sequence (PRS) is an inherited disorder that affects one in between 8,500 and 14,000 people and is characterized by a triad of clinical signs. These include micrognathia, glossoptosis and obstruction of the upper airway, typically associated with palatal cleft.
PRS has also been associated with various ocular complications, including high congenital myopia, congenital glaucoma, and retinal detachment.
Because of the clinical importance of PRS, it is critical to illustrate the features of the Robin sequence to clearly define its primary and secondary clinical signs. We describe a patient with PRS who developed keratoconus as a rare manifestation of the disease and its management.

Keywords

Keratoconus; Pierre Robin syndrome; Cornea; Corneal topography

Resumen

La secuencia de Pierre Robin (PRS) es una patología hereditaria que afecta a una de entre 8.500 y 14.000 personas y está caracterizada por una triada de signos. Estos incluyen micrognatia, glosoptosis y obstrucción de vías aéreas altas, típicamente asociados a labio leporino.
PRS ha sido también relacionado con afectación oftalmológica, incluyendo miopía congénita, glaucoma congénito o desprendimiento de retina.
Debida a la importancia clínica de la PRS, es fundamental describir las distintas características de la secuencia Pierre Robin, para así definir los signos principales y secundarios de la patología. Describimos el caso de una paciente con PRS que desarrolló queratocono como una extraña manifestación de la enfermedad.

Palabras clave

Queratocono; Síndrome de Pierre Robin; Cornea; Topografía corneal

References

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Submitted date:
09/15/2022

Reviewed date:
10/22/2022

Accepted date:
12/29/2022

Publication date:
01/06/2023

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