Corneal topography (Oculus Pentacam) was performed ( Figure 1), showing maximum keratometry values of 72.6D and 75.3D on OD and OS respectively.Ĭorneal topography of the patient, upon first consultation at our hospital, showing a maximum keratometry value of 72.6D on OD. Slit-lamp examination of OD showed Vogt’s striae, and OS showed Vogt’s striae as well as apex fibrosis.

Upon examination, best corrected visual acuity (BCVA) using the Snellen Chart was 20/200 (sph-2,5 cyl-3,25 axis 30) on the right eye (OD), and 20/200 (sph-4 cyl -2,5, axis 125) on the left eye (OS). Parents denied any history of atopy, eye rubbing or other systemic conditions. No prior visual examinations had been performed until the day of the first visit. She had a general history of Pierre Robin sequence associated with intellectual disability. Although the patient only referred mild photophobia, her parents assured she had been suffering from vision loss. We describe the case, follow up and management of a patient diagnosed of PRS at birth who developed keratoconus.Ī 28-year-old female was admitted to our Hospital for the evaluation of presumed visual defect. PRS is frequently associated with systemic affections, but also to ophthalmologic clinic such as high myopia, congenital glaucoma or retinal detachment but the cases described that associate this disease with keratoconus are very few in the scientific literature. Santoro et al recently studied the prevalence of the disease, analyzing the cases of PRS collected by the population-based congenital anomaly registries of EUROCAT and found that the overall prevalence was 12.0 per 100 000 births, being higher in the most recent 10-year period (2008-2017). Alterations in the SOX9 gene derive in phenotype changes from cartilage defects during early facial growth. Such gene plays a major role in the formation of different tissues during the embryonic development, through the regulation of other genes, mainly those involved in the formation of the mandible. Other associations include gene SOX9, known to be the most common cause of isolated Pierre Robin sequence. Various chromosomal anomalies have been associated with PRS, including regions 2q24.1–33.3, 4q32-qter, 17q21–24.3, and 11q21–23.1.

Isolated PRS is typically sporadic but familiar heritance with autosomal dominant heritance has also been described. When Pierre Robin sequence occurs by itself, it is described as nonsyndromic or isolated. Some patients have the features of PRS as part of a syndrome that affects other organs and tissues in the body, such as Stickler syndrome (most frequent) or campomelic dysplasia. This micrognathia leads to downward displacement or retraction of the tongue (glossoptosis), which eventually results in airway obstruction and feeding difficulties. The underdevelopment of the mandible is thought to be secondary to an impairment in intrauterine growth. The Pierre Robin condition is illustrated as a sequence because of the progression of its features. Typically, a wide U-shaped cleft palate has been described associated with this syndrome. Pierre Robin Sequence (PRS) is a disorder affecting fundamentally the head and face, defined by micrognathia, glossoptosis and ultimately, airway restriction. Palabras clave: Queratocono, Síndrome de Pierre Robin, Cornea, Topografía corneal. Describimos el caso de una paciente con PRS que desarrolló queratocono como una extraña manifestación de la enfermedad. PRS ha sido también relacionado con afectación oftalmológica, incluyendo miopía congénita, glaucoma congénito o desprendimiento de retina.ĭebida 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. Estos incluyen micrognatia, glosoptosis y obstrucción de vías aéreas altas, típicamente asociados a labio leporino. 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. Keywords: Keratoconus, Pierre Robin syndrome, Cornea, Corneal topography. We describe a patient with PRS who developed keratoconus as a rare manifestation of the disease and its management.

PRS has also been associated with various ocular complications, including high congenital myopia, congenital glaucoma, and retinal detachment.īecause 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. These include micrognathia, glossoptosis and obstruction of the upper airway, typically associated with palatal cleft. 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.

Desprendimiento de retina signos