The optic neuropathy of Kjer, or dominant optic atrophy, is the most common among optic neuropathies. iI is an optical atrophy of dominant autosomal character that is caused by an alteration in the gene on chromosome 3q28 with OPA1 penetration of 98% Only 15% of cases have visual acuity of 0.1 or worse, while demonstrating different grades of atrophy of the disc. This report aims to describe the genetic and clinical characteristics, and methods of family counseling through the presentation […]

Kabuki syndrome is a rare congenital anomaly, characterized by five fundamental features, the “Pentad of Niikawa”: dysmorphic facies, skeletal anomalies, dermatoglyphic abnormalities, mild to moderate mental retardation and postnatal growth deficiency. Patients present characteristic external ocular features, nonetheless they may also present significant ocular abnormalities. We report a case of a brazilian child diagnosed with Kabuki syndrome, addressing the clinical features observed, with emphasis on the ocular manifestations. This case highlights the existence of this syndrome and all of its […]

The intrastromal corneal ring implant surgery is becoming a surgical procedure in the treatment of keratoconus additive in order to minimize and delay the complications inherent to the pathology. Its action consists in the remodeling cornea, flattening and regulating the central corneal surface. Nowadays with the advent of new technologies, there is an important contribution in the diagnosis of keratoconus, with not only diagnosis but also more effective with better monitoring and prognosis of patients with this disorder ectatic. In […]

The authors report a case of a patient who presented bilateral branch retinal artery occlusion without any meaningful systemic underlying conditions.

The authors relate a predominantly hemorrhagic choroidal neovascular lesion from neovascular. Age-related macular degeneration patient case treated with intravitreal ranibizumab therapy. Monthly ranibizumab (six intravitreal injections) displayed a promising response but this limited report is insufficient to guarantee the indication for all predominantly hemorrhagic choroidal neovascular lesion from neovascular age-related macular degeneration. Further studies will be necessary for complete validation of our results for all predominantly hemorrhagic choroidal neovascular lesions from CNV due to AMD.

Saethre-Chotzen syndrome is a very rare congenital syndrome characterized by craniosynostosis. The incidence of it is around 1: 50,000 live births. Intelligence is usually normal, but a few affected individuals may have mild to moderate mental retardation. Children with Saethre-Chotzen syndrome should be evaluated by members of an experienced interdisciplinary team as treatment usually involves many different specialities. The strabismus surgery in these patients is difficult, because they usually have anomalous insertion and misdirection of the extraocular muscles. Imaging techniques […]

We present a case of late high progressive astigmatism following penetrating keratoplasty for keratoconus, which was associated with peripheral thinning in the donor-receptor area, which may be recognized as recurrence of ectasia. Treatment was accomplished with Cvintal’s Topoplasty assisted by femtosecond laser for a “top hat”, followed by resuture with peroperative adjustment guided by ceratoscopy.

To describe the electrophysiological alterations in a very rare case of Oguchi’s disease. A 17-year-old italian girl complaining of night blindness underwent complete ophthalmological exams, including electrophysiological tests. Rod responses were nondetectable in full-field electroretinogram (ERG). The photopic ERG funtions, including the 30 Hz flicker ERG response was normal, while the scotopic b-wave was diminished in amplitude. The electrooculography (EOG) ratios within the normal range were 208% in the right eye and 222% in the left eye. The Mizuo-Nakamura phenomenon […]