Symptoms and Testing information for ITPR1 Gene Gillespie syndrome Genetic Test

Symptoms and Testing information for ITPR1 Gene Gillespie syndrome Genetic Test

Gillespie syndrome, a rare genetic disorder characterized by partial aniridia (absence of the iris), ataxia (lack of muscle control), and intellectual disabilities, is linked to mutations in the ITPR1 gene. The ITPR1 gene plays a crucial role in calcium release within cells, which is vital for various cellular processes, including those necessary for proper vision, […]

Symptoms and Testing information for MYOC Gene Glaucoma open angle type 1A Genetic Test

Symptoms and Testing information for MYOC Gene Glaucoma open angle type 1A Genetic Test

Glaucoma is a group of eye conditions that damage the optic nerve, the health of which is vital for good vision. This damage is often caused by abnormally high pressure in your eye. One of the genetic factors associated with the development of glaucoma, specifically open-angle glaucoma, is mutations in the MYOC gene. Understanding the […]

Symptoms and Testing information for OPTN Gene Glaucoma open angle type 1E Genetic Test

Symptoms and Testing information for OPTN Gene Glaucoma open angle type 1E Genetic Test

Glaucoma is a group of eye conditions that can lead to blindness by damaging the optic nerve, which is vital for good vision. This damage is often caused by abnormally high pressure in your eye. Open-angle glaucoma, the most common form of the disease, progresses slowly and without any noticeable signs at first. However, when […]

Symptoms and Testing information for NTF4 Gene Glaucoma open angle type 1F Genetic Test

Symptoms and Testing information for NTF4 Gene Glaucoma open angle type 1F Genetic Test

Glaucoma is a group of eye conditions that damage the optic nerve, essential for good vision. This damage is often caused by abnormally high pressure in your eye and can lead to blindness if not treated. Among the different types of glaucoma, open-angle glaucoma is the most common. Recent advances in genetics have led to […]

Symptoms and Testing information for WDR36 Gene Glaucoma open angle type 1G Genetic Test

Symptoms and Testing information for WDR36 Gene Glaucoma open angle type 1G Genetic Test

Glaucoma is a group of eye conditions that can lead to vision loss and blindness by damaging the optic nerve, which is vital for good vision. One specific form of glaucoma, Open Angle Glaucoma, has a genetic component that can be identified through genetic testing. In particular, mutations in the WDR36 gene have been associated […]

Symptoms and Testing information for CYP1B1 Gene Glaucoma primary type 3A Genetic Test

Symptoms and Testing information for CYP1B1 Gene Glaucoma primary type 3A Genetic Test

Glaucoma is a group of eye conditions that can lead to vision loss by damaging the optic nerve, often associated with increased pressure in the eye. Primary Congenital Glaucoma (PCG) is a severe form of glaucoma that appears early in life, ranging from birth to the first few years. Among the genetic variations contributing to […]

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