Patau syndrome is caused by an extra copy of chromosome 13 and is the third most common autosomal trisomy in newborns. Incidence of trisomy 13 is approximately 1 case per 8,000-12,000 live births. Multiple large studies have detailed a poor prognosis of patients with Patau syndrome. Median survival is 7 to 10 days in live-born patients, and 90% live for less than 1 year.
Infants with trisomy 13 have numerous malformations. Patients often have congenital heart defects, brain or spinal cord abnormalities, polydactyly, cleft lip or palate, and hypotonia.
Ocular findings are present in 90% of Patau syndrome subjects. Typical inferonasal iris coloboma with sectoral cataract in the same location is highly suggestive of this syndrome. And other eye features are described.
We present a 6 years old girl, with Patau syndrome. The patient is regularly observed in a pediatric ophthalmology clinic since birth. The patient has typical habitus: congenital eye pathologies – microphthalmia, cataract, glaucoma, coloboma of the iris, dysgenesis of the cornea and iris. Congenital CNS pathologies, atrial septal defect, polycystic kidneys.
In this clinical report, we analyze patient pathologies over 6 years of her life, their development and treatment. Our main view is on the dynamics of her eye pathologies and the received and possible therapy.
We have done literature review of other Patau syndrome patients, to understand best possible treatment for eye pathologies in these patients.
- 3.4. Other publications in conference proceedings (including local)