Novel human CRYGD rare variant in a Brazilian family with congenital cataract.

Purpose: To describe a novel polymorphism in the γD-crystallin (CRYGD) gene in a Brazilian family with congenital cataract.

Methods: A Brazilian four-generation family was analyzed. The proband had bilateral lamellar cataract and the phenotypes were classified by slit lamp examination.

Keeping an eye on myocilin: a complex molecule associated with primary open-angle glaucoma susceptibility.

MYOC encodes a secretary glycoprotein of 504 amino acids named myocilin. MYOC is the first gene to be linked to juvenile open-angle glaucoma (JOAG) and some forms of adult-onset primary open-angle glaucoma (POAG). The gene was identified as an up-regulated molecule in cultured trabecular meshwork (TM) cells after treatment with dexamethasone and was originally referred to as trabecular meshwork-inducible glucocorticoid response (TIGR).

[Use of hyaluronic acid in Ophthalmology].

Hyaluronic acid is a polysaccharide of the glycosaminoglycan family present in mammal tissues. In the eye, it can be found in the cornea, the sclera and the vitreous humor. Currently, it has been employed in several medical specialties, including ophthalmology.

Ocular findings in Brazilian identical twins with Cohen syndrome: case report.

A case of identical male twins with Cohen syndrome who present multiple ophthalmic findings is reported. The patients were identical 16 year-old twin boys who showed down slanting eyelids, mild ptosis, high-grade myopia, small cortical lens opacities, posterior subcapsular cataracts, myotic and corectopic pupils with poor dilation due to focal iris atrophy and retinochoroidal dystrophy. Ophthalmologists must be aware of the ocular and systemic findings of Cohen syndrome in the evaluation of young patients with mental retardation and visual impairment.

[Use of mitomycin C for corneal-conjunctival intraepithelial neoplasia: management options--case reports].

Three cases of corneal-conjunctival intraepithelial neoplasia treated differently with mitomycin C based on clinical presentation are reported. The selected patients were followed at the Department of Ophthalmology of the Casa de Saúde Santo Inácio. According to the clinical appearance of the lesions, 0.