A Clinical case of surgical treatment of complicated cataracts in a patient with combined congenital eye pathology

Purpose. To evaluate the clinical and functional visual results in a patient with complicated cataract on the background of combined congenital eye pathology after performing cataract phacoemulsification with toric intraocular lens implantation. Material and methods. Under the supervision of patient Ch., who successfully underwent surgery on the right eye-cataract phacoemulsification with implantation of an intraocular lens for complicated cataracts against the background of combined congenital eye pathology. Results. The patient Ch. was subjectively satisfied with the visual functions obtained in the right eye. Conclusion. Thus, this clinical case demonstrates a very successful implementation of cataract phacoemulsification with implantation of a toric intraocular lens in a patient with complicated cataracts against the background of a combined congenital eye pathology. Key words: complicated cataract, coloboma of the iris, coloboma of the choroid, phacoemulsification of the cataract, astigmatic correction.

Neurological findings of a patient with Patau syndrome and a nonusual clinical presentation

Context: Chromosome 13 trisomy, or Patau syndrome (PS), is a genetic condition characterized by multiple findings and usually poor survival rate. However, its clinical presentation can be variable. Case report: A male patient was referred for evaluation due to a syndromic aspect. He was born by normal delivery, at term, weighing 4700 g. On physical exam, at 2 months, two areas of scaly aplasia on the scalp were shown as well as left coloboma of the iris, bulbous nose with small nostrils, ears with oversized helices, micrognathia, umbilical hernia, clinodactyly of the index finger of the hand left and the 4th and 5th toes of the left foot. Echocardiography revealed tetralogy of Fallot. The karyotype showed a free trisomy of chromosome 13 (47, XY, + 13), compatible with the diagnosis of PS. The patient died at 9 months of age due to complications from bronchopneumonia and had evolved with a delay in neuropsychomotor development at that moment. Conclusions: There are findings that stand out among patients with PS and that very often lead to diagnosis, such as micro/anophthalmia, bilateral cleft lip/palate and polydactyly. It is interesting in our case that the patient did not have any of them, which made it difficult to identify. In addition, from a neurological point of view, the findings were quite common; however, in our patient, there was only a delay in neuropsychomotor development, pointing out that the neurological findings can also be quite variable.