Homozygous mutation in ABCA4 associated with cone rod dystrophy in a patient with Turner syndrome.

Purpose: We report a special case of a patient who presented with two rare genetic diseases, Turner syndrome and cone-rod dystrophy (CRD), caused by mutation in the ABCA4 gene.

Methods: We present a case of a 12-year-old female with a progressive visual loss, poor night vision and short stature. We performed a clinical, karyotype of peripheral blood and molecular genetic study.

Indications and results of exotropia surgical management.

Aim: To study the clinical particularities and the surgical management of the different forms of exotropia, and to analyze the prognostic factors influencing the surgical result.

Methods: Medical records of 132 patients who underwent exotropia surgery from 1995 to 2015, were retrospectively reviewed. Ophthalmological examination and a complete sensorimotor assessment were performed for each patient.