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PATHOLOGIES
Idiopathic Juxtafoveolar Retinal Telangiectasis

Idiopathic Juxtafoveolar Retinal Telangiectasis (JFT)

Idiopathic Juxtafoveolar Retinal Telangiectasis (JFT), also known as perifoveal telangiectasis or mac-tel (macular telangiectasia), is a condition affecting the blood vessels in the central part of the retina, known as the fovea. The fovea is crucial for sharp vision required for activities such as reading and recognizing faces. This condition results in abnormal blood vessel...
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Malattia di Stargardt in fratelli gemelli eterozigoti

Stargardt Disease in Heterozygous Twin Siblings

Stargardt disease is an inherited macular dystrophy that leads to progressive loss of central vision, typically manifesting during childhood or adolescence. It is caused by mutations in the ABCA4 gene and follows an autosomal recessive inheritance pattern. Inheritance and Probability of Manifestation in Heterozygous Twin Siblings As an autosomal recessive condition, an individual must inherit...
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Stargardt Disease

Stargardt disease is the most common form of macular dystrophy in young people and is a frequent hereditary cause of central vision impairment. It is estimated to affect between 1 in 8,000 and 1 in 10,000 individuals. The disease was first described in 1909 by Karl Stargardt. Despite significant advancements in understanding its genetics and...
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Optic Pits: A Rare Anomaly of the Optic Nerve

Optic pits, also known as optic nerve pits, are a rare congenital anomaly affecting the optic disc, the part of the optic nerve visible during a fundus examination. First discovered in 1882, this condition is generally asymptomatic and is often detected incidentally during a routine eye examination. What Are Optic Pits? Optic pits appear as...
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Distrofia Vitelliforme Maculare di Best

Vitelliform Macular Dystrophy (Best Disease)

This patient came to our attention 4 years ago for Vitelliform Macular Dystrophy or Best Disease. (See below for a description of this condition). Initially, a layered yellow spot is visible in the right eye on retinography, and on OCT, the spot appears hyperdense in the lower part and hypodense in the upper part. On...
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