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 …

Cornea verticillata was the most frequently reported ophthalmic abnormality in both hemizygous males and heterozygous females, and may represent a useful diagnostic marker. Tortuous …

May 27, 2023 · Cornea verticillata is the most common ophthalmic feature in both hemizygous men and heterozygous females. Vessel tortuosity has been linked to a faster disease …

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. …

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 …

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 …

Jun 12, 2020 · 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, …

Jul 1, 2008 · 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 …

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' …

Jun 15, 2017 · Fabry disease results from mutations in the GLA gene encoding alpha-galactosidase A. The inability to metabolize glycosphingolipids causes a buildup in …

Jun 24, 2023 · Ocular manifestations are considered distinctive features of FD. Corneal verticillata, also known as vortex keratopathy, is the most commonly reported ocular …

Cornea verticillata was the most frequently reported ophthalmic abnormality in both hemizygous males and heterozygous females, and may represent a useful diagnostic marker. Tortuous …

Apr 1, 2006 · Fabry disease is an X-linked genetic disorder with multiple organ dysfunction attributable to a congenital error in glycosphingolipid metabolism and is characterized by …

(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 …

May 27, 2023 · Cornea verticillata is the most common ophthalmic feature in both hemizygous men and heterozygous females. Vessel tortuosity has been linked to a faster disease …

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 …

May 27, 2023 · Cornea verticillata is the most common ophthalmic feature in both hemizygous men and heterozygous females. Vessel tortuosity has been linked to a faster disease …

Feb 9, 2023 · The ophthalmological manifestations of Fabry disease are inconsistent, but the most frequent and specific ocular finding is cornea verticillata, resulting from Gb3 deposits …

Jan 1, 2010 · The more specific ocular manifestations of Fabry Disease (FD) are represented by corneal opacities (cornea verticillata), cataract, and conjunctival and retinal vascular …

Feb 21, 2025 · 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 …

Cornea verticillata was therefore the most frequently reported ophthalmic abnormality in Fabry’s disease in both hemizygotic males and heterozygotic females. Tortuous conjunctival and …