Surgical treatment outcomes in heavy eye syndrome - a case series.

: The study cohort comprised five patients, each presenting with unilateral high axial myopia and classic clinical features of HES, including large angle esotropia, hypotropia, and restricted abduction and supraduction. All patients displayed evident superotemporal globe prolapse on MRI imaging, corresponding to the downward displacement of the LR muscle and medial shift of the SR muscle.Following the surgical procedure, all patients demonstrated significant improvements in both vertical and horizontal deviations, effectively addressing the primary clinical manifestations of HES.

Sodium Channel Myotonia and a Novel Gly701Asp Mutation in the SCN4A Gene: From an Ophthalmological Symptom to a Familial Disease.

A six-month-old female child came to an ophthalmology consultation because of a convergent strabismus, myotonia of the orbicularis muscles and difficulty walking in cold environments. Further investigation identified a family history of muscular myotonia in the father, grandmother and uncle. The father also presented with ocular myotonia.

Congenital Horner and Scimitar syndrome in a newborn: a previously unreported combination.

Here we report a case of a term newborn presenting with left palpebral ptosis, anisocoria and heterochromia as well as cleft palate and heart murmur. Congenital Horner syndrome was suspected and a thoracoabdominal CT scan was performed to rule out neuroblastoma. This revealed an anomalous drainage of right pulmonary veins to a collector that drains to the inferior vena cava, leading to the diagnosis of Scimitar syndrome.

Ophthalmologic Manifestations of Wolfram Syndrome: Report of 14 Cases.

Purpose: The aim of this study was to describe ophthalmological abnormalities in 14 cases of Wolfram syndrome belonging to 9 different families.

Methods: Patients were submitted to a complete ophthalmological, neurological, otorhinolaryngological, urological, and genetic evaluation.

Results: Our sample comprised 14 Caucasian patients belonging to 9 different families.

[Pediatric Cataracts: A Retrospective Study of 12 Years (2004 - 2016)].

Introduction: Cataracts are a major cause of preventable childhood blindness. Visual prognosis of these patients depends on a prompt therapeutic approach. Understanding pediatric cataracts epidemiology is of great importance for the implementation of programs of primary prevention and early diagnosis.

Factors Predictive of Success in Probing for Congenital Nasolacrimal Duct Obstruction.

Purpose: To report the success rate of children undergoing probing for congenital nasolacrimal duct obstruction (CNLDO) and the factors relating to the failure of the procedure.

Methods: This retrospective case series included 88 eyes of 62 patients, aged 1 to 138 months, who underwent probing between January 2008 and December 2014 in the Pediatric Ophthalmology Unit of Centro Hospitalar São João. The procedure was performed in the operating room under general anesthesia.

Isolated foveal hypoplasia: tomographic, angiographic and autofluorescence patterns.

Purpose. To report clinical aspects, tomographic, angiographic, and autofluorescence patterns of two cases of isolated foveal hypoplasia. Methods.

Combination of intravitreal ranibizumab and laser photocoagulation for aggressive posterior retinopathy of prematurity.

Purpose: To report on 2 cases of aggressive posterior retinopathy of prematurity (ROP) treated with intravitreal ranibizumab (Lucentis(®)) and laser photocoagulation.

Methods: Two premature females, born at 25 and 26 weeks' gestation with a birth weight of 530 and 550 g, respectively, with aggressive posterior ROP received combined treatment with laser photocoagulation and intravitreal ranibizumab (0.3 mg [30 µl]) to each eye.