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Oculocutaneous Albinism. A Case Report

SCIENTIFIC POSTER_Silvia Monteiro_1 Introduction: Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, suggesting that about 1 in 70 people carry a gene for OCA. The clinical spectrum of OCA ranges, with...

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Retinal Vascular Tortuosity and Recurrent ME in Crohn Disease: A Rare Ocular Manifestation or an Independent Vascular Pathology?

SCIENTIFIC POSTER_Silvia Monteiro_2 Introduction: Crohn’s disease (CD) is primarily considered an inflammatory condition of the small and large intestine, although associated extraintestinal inflammation is relatively common. Extra-intestinal manifestations of CD occur in one third of patients. Ocular complications are infrequent, occurring in less than 10% of cases, but can be associated with significant morbidity. Ocular manifestations...

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Macular Macroaneurysm: Case Report

SCIENTIFIC POSTER_Ana Figueiredo Introduction: Retinal macroaneurysms are described as idiopathic, acquired, round dilations of major retina arterioles, usually singular and unilateral. If located at the posterior pole, they may be associated with macular exudation and hemorrhage resulting in decreased visual acuity. Systemic hypertension is the most common associated risk factor. Pathogenesis of retinal arterial macroaneurysms is not fully...

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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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