Mohr-Tranebjærg syndrome (MTS) is an X-liked recessive rare syndrome also known as deafness-dystonia syndrome. The severity of the symptoms may vary, but they progress usually to severe deafness and dystonia and sometimes they are accompanied by cortical deterioration of vision and mental deterioration. The purpose of this paper is to illustrate a very interesting case of Mohr-Tranebjærg syndrome. A 24-year-old italian man with Mohr-Tranebjærg syndrome underwent full field electroretinography (ERG) and visual evoked potentials (VEPs). Fundus examination showed apparently normal […]

Angle-closure glaucoma can be induced by drugs that may cause pupillary dilatation. We report a case of a patient that developed bilateral angle closure glaucoma after an ileostomy surgery because of systemic atropine injection. This case report highlights the importance of a fast ophthalmologic evaluation in diseases with ocular involvement in order to make accurate diagnoses and appropriate treatments.

Sturge-Weber Syndrome is a rare neuro-oculocutaneous disorder. The authors describe the case of a 13 years old boy, presented with bilateral Sturge-Weber Syndrome and glaucoma. Surgical treatment with Ahmed valve implantation in both eyes was carried out achieving lower levels of intraocular pressure.

Susac’s syndrome is a rare disease attribuited to a microangiopathy involving the arterioles of the cochlea, retina and brain. Encefalopathy, hearing loss, and visual deficits are the hallmarks of the disease. Visual loss is due to multiple, recurrent branch arterial retinal occlusions. We report a case of a 20-year-old women with Susac syndrome presented with peripheral vestibular syndrome, hearing loss, ataxia, vertigo, and vision loss due occlusion of the retinal branch artery.

Liquoric fistula (LF) is defined as the communication of the subarachnoid space with the external environment, which main complication is the development of infection in the central nervous system. We reported the case of a patient with non-traumatic eyelid liquoric fistula secondary to orbital meningocele (congenital lesion), which main clinical manifestation was unilateral eyelid edema. Her symptoms and clinical signs appeared in adulthood, which is uncommon. The patient received surgical treatment, with complete resolution of the eyelid swelling. In conclusion, […]

The pituitary adenoma is a tumor of slow evolution and has important visual disturbances such as low visual acuity and field defects. These symptoms lead patients to seek often ophthalmologists. In this case, we will analyze a patient with glaucoma who had an associated pituitary macroadenoma.

Schwannoma is a rare benign neurogenic tumor. It arises from Schwann cells located at the myelin sheath of peripheral nerves. Its incidence is frequently associated with the orbit. Ocular tissues in general and eyelids in particular are rarely affected. Very few reports can be found in the literature describing eyelid schwannomas. Amongst these, we have found only two describing it affecting children. To our knowledge, this is the first case report about eyelid schwanomma in Brazil – and it involves […]

Fraser syndrome is a systemic condition characterized by cryptophthalmos, syndactyly and abnormal genitalia, which may be associated with urinary tract, ear, nose, larynx and skeletal abnormalities. Cryptophthalmos can be an isolated finding (that has been reported as an autosomal dominant trait) or associated with other congenital anomalies (reported as an autosomal recessive disorder). Child, female, nine month of life, evaluated in the lacrimal setor of Federal University of São Paulo. Child of consanguineous parents. Her physical examination showed total unilateral […]