Fabry disease is an X-linked recessive disorder and thus most cases involve males. The disease is seen across all racial and ethnic groups approximately equally. Corneal disease: The classic and most common presentation of corneal disease involves the presence of cornea verticillata.

Cornea verticillata was the most frequently reported ophthalmic abnormality in both hemizygous males and heterozygous females, and may represent a useful diagnostic marker. Tortuous vessels and Fabry cataracts were more frequent in males than in females.

2023年5月27日 · Cornea verticillata is the most common ophthalmic feature in both hemizygous men and heterozygous females. Vessel tortuosity has been linked to a faster disease progression and may be useful in predicting systemic involvement.

A common sign of Fabry disease, and one that often leads to an earlier diagnosis than other Fabry disease symptoms are pale gray, brownish or yellowish streaks in the cornea of the eye. These are commonly referred to as corneal opacities and …

The ocular manifestations of Fabry disease include cornea verticillata, which is the most common finding and is seen in all hemizygotes and in a majority (up to 70%) of heterozygotes. 5 Cornea verticillata is the outcome of deposits of GB3 in the basal

The data indicate that cornea verticillata is the most frequently reported eye abnormality in both hemizygotic males and heterozygotic females with Fabry's disease, and, at present, can be considered the most significant ophthalmological marker for the diagnosis of Fabry's disease.

2020年6月12日 · Fabry disease can lead to corneal opacities — grey, brown, or yellowish streaks that appear on the cornea, the clear outer layer that covers the lens of the eye. Sometimes, they first appear as a haze or fog over the cornea, becoming more streak-like with time.

2008年7月1日 · Cornea verticillata, visible with slit-lamp microscopy, is the most distinctive and common ocular finding in Fabry disease, and is present in the majority of male and female patients as well as asymptomatic female carriers.

These are sometimes referred to as cornea verticillata or Fleischer vortex dystrophy with a pattern similar to that seen in some patients using atabrine or amiodarone. A general 'haze' throughout the cornea is even more common.

2017年6月15日 · Fabry disease results from mutations in the GLA gene encoding alpha-galactosidase A. The inability to metabolize glycosphingolipids causes a buildup in globotriaosylceramide in the cells found in nerves, vasculature, and …

2023年6月24日 · Ocular manifestations are considered distinctive features of FD. Corneal verticillata, also known as vortex keratopathy, is the most commonly reported ocular manifestation [10].

Cornea verticillata was the most frequently reported ophthalmic abnormality in both hemizygous males and heterozygous females, and may represent a useful diagnostic marker. Tortuous vessels and Fabry cataracts were more frequent in males than in females.

2006年4月1日 · Fabry disease is an X-linked genetic disorder with multiple organ dysfunction attributable to a congenital error in glycosphingolipid metabolism and is characterized by angiokeratoma (telangiectatic cutaneus lesions), hypohidrosis, acroparesthesia, and ocular abnormalities and vascular lesions that involves kidney, heart, and brain; this progres...

(Contributor: Jesse Vislisel, MD) Fabry disease is an X-linked dominant sphingolipidosis caused by a deficiency in alpha-galactosidase A which results in accumulation of ceramide trihexoside in select body tissues. Ocular findings include cornea verticillata, conjunctival aneurysms, cataracts, retinal vascular changes and optic atrophy.

2023年5月27日 · Cornea verticillata is the most common ophthalmic feature in both hemizygous men and heterozygous females. Vessel tortuosity has been linked to a faster disease progression and may be useful in predicting systemic involvement.

Fabry disease results from an enzyme deficiency that leads to the deposition of a specific lipid (fat) molecule throughout tissues in the body including the eye, brain, kidney, heart, blood vessels, and other organs. It was first described by a German physician, J. Fabry, in 1898.

2023年5月27日 · Cornea verticillata is the most common ophthalmic feature in both hemizygous men and heterozygous females. Vessel tortuosity has been linked to a faster disease progression and may be useful in...

2023年2月9日 · The ophthalmological manifestations of Fabry disease are inconsistent, but the most frequent and specific ocular finding is cornea verticillata, resulting from Gb3 deposits between the basal membrane of the corneal epithelium and Bowman’s membrane.

2010年1月1日 · The more specific ocular manifestations of Fabry Disease (FD) are represented by corneal opacities (cornea verticillata), cataract, and conjunctival and retinal vascular abnormalities. Cornea verticillata is the most common ocular finding and consists of bilateral...

2025年2月21日 · Fabry Disease (FD) is an X-linked genetically inherited multisystemic disease caused by pathological variants in the gene encoding for alpha galactosidase A, leading to lysosomal accumulation of ...

Cornea verticillata was therefore the most frequently reported ophthalmic abnormality in Fabry’s disease in both hemizygotic males and heterozygotic females. Tortuous conjunctival and retinal vessels and Fabry cataract were more frequently found in males than in females.