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Albino Fundus 1

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Atypical Bilateral Morning Glory Syndrome

Pedro Neves_SCIENTIFIC POSTER 2015 Introduction: Morning Glory Syndrome is a non-hereditary optic nerve malformation, most frequently unilateral and in women, rarely affecting black patients. The optic disk is abnormally excavated and funnel-shaped, with an hypopigmented neuroretinal rim and radially-oriented vessels. Up to one third of patients present with a retinal detachment, and this syndrome may be associated with other craniofacial...

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Re-intervention in De-novo Vitreous Opacities After PPV in Familial Amyloidotic Polyneuropathy in Portuguese Patients

SCIENTIFIC POSTER_Natalia Ferreira Purpose: To report management of de novo vitreous amyloid opacities after previous pars plana vitrectomy in familial amyloidotic polyneuropathy. Methods: Retrospective observational consecutive case series of 4 eyes. Demographic data, TTR mutation involved, age at the beginning of disease, period of evolution of disease, liver transplant, time between total vitrectomy and repeat intervention and the...

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Ocular Manifestations of Familial Amyloidosis Transthyretin V30M Related: Impact of Liver Transplantation

SCIENTIFIC POSTER_Ines Casal_2 Familial amyloidosis TTR V30M is caused by an amino acid substitution of methionine for valine at position 30 of transthyretin (TTR), a transport protein. This leads to an extracellular amyloid deposition in peripheral nerves causing motory, sensory and autonomic neuropathy in solid organs and the eye. The major production of circulating TTR is in the liver, but some production occurs also in the choroid and...

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Familial Amyloidosis TTR V30M: What Happens in the Posterior Segment of the Eye?

SCIENTIFIC POSTER_Ines Casal_1 Familial amyloid polyneuropathy (FAP) is a group of autosomal dominant inherited diseases whose most frequent causative mutation is TTR V30M (a substitution of methionine for valine at position 30 in transthyretin). Transthyretin (TTR) is a normal serum protein which is mainly synthesized in the liver, but also in other tissues such as the choroid plexus and the retinal pigmented epithelium. This disorder is...

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Use of Ranibizumab for Neovascular Glaucoma in a Patient with Familial Amyloidosis Transthyretin V30M Related

SCIENTIFIC POSTER_Ines Casal_3 Introduction: Familial amyloidosis TTR V30M is an autosomal dominant inherited disorder caused by extracellular amyloid deposition in nerves, solid organs and in the eye. Several ocular manifestations were reported such as abnormal conjunctival vessels, keratoconjunctivitis sicca, amyloid deposits at the pupillary margin, glaucoma, deposition of amyloid at the anterior capsula of the lens, vitreous opacities...

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