Ectopia lentis et pupillae is a rare genetic disorder characterized by the dislocation of the lens and pupil of the eye. This condition is primarily caused by mutations in the ADAMTSL4 gene. Understanding the symptoms associated with this condition is crucial for early diagnosis and treatment. DNA Labs UAE offers a comprehensive genetic test for […]
Ophthalmology Diseases
Symptoms and Testing information for FBN1 Gene Ectopia lentis familial Genetic Test
— Ectopia lentis is a condition characterized by the displacement or malposition of the crystalline lens of the eye. This condition can occur due to various reasons, but when it is specifically linked to a genetic cause, the FBN1 gene is often involved. The FBN1 gene is responsible for the production of fibrillin-1, a protein […]
Symptoms and Testing information for ADAMTSL4 Gene Ectopia lentis isolated autosomal recessive Genetic Test
Ectopia lentis refers to the displacement or malposition of the eye’s lens, a condition that can occur due to various reasons, including genetic factors. One such genetic cause is mutations in the ADAMTSL4 gene, leading to an autosomal recessive form of isolated ectopia lentis. Understanding this condition, its symptoms, and the significance of genetic testing […]
Symptoms and Testing information for LOXL1 Gene Exfoliation syndrome susceptibility to Genetic Test
Symptoms of LOXL1 Gene Exfoliation Syndrome Susceptibility to Genetic Test Exfoliation syndrome (XFS) is a systemic condition characterized by the accumulation of fibrillar extracellular material in various organs, including the eyes. This syndrome is the most common identifiable cause of open-angle glaucoma, posing significant risks to those affected. The LOXL1 gene has been strongly associated […]
Symptoms and Testing information for FZD4 Gene Exudative vitreoretinopathy Genetic Test
Exudative vitreoretinopathy, also known as Familial Exudative Vitreoretinopathy (FEVR), is a rare genetic disorder that affects the growth and development of blood vessels in the retina of the eye. This condition can lead to visual impairment or blindness if not diagnosed and treated in a timely manner. One of the genes associated with this condition […]
Symptoms and Testing information for CACNA1F Gene Cone-rod dystrophy X-linked type 3 Genetic Test
Cone-rod dystrophy X-linked type 3, associated with mutations in the CACNA1F gene, is a rare genetic disorder that affects the retina. This condition leads to the progressive loss of vision due to the degeneration of cone and rod photoreceptor cells in the eye. Understanding the symptoms and the availability of genetic testing is crucial for […]
Symptoms and Testing information for NDP Gene Exudative vitreoretinopathy type 2 Genetic Test
In the realm of genetic testing, understanding the intricacies of specific genes and their associated conditions is crucial for early diagnosis and management. One such condition, Exudative Vitreoretinopathy Type 2 (EVR2), linked to mutations in the NDP gene, underscores the importance of genetic testing for individuals at risk. DNA Labs UAE stands at the forefront […]
Symptoms and Testing information for TGFBI Gene Corneal dystrophy epithelial basement membrane Genetic Test
In the realm of genetic diagnostics, the identification of specific gene mutations that contribute to hereditary diseases is a crucial step in providing personalized medicine and targeted treatments. Among these genetic conditions, corneal dystrophies, particularly those associated with the TGFBI gene, have garnered significant attention due to their impact on vision and quality of life. […]
Symptoms and Testing information for TSPAN12 Gene Exudative vitreoretinopathy type 5 Genetic Test
Exudative vitreoretinopathy type 5, caused by mutations in the TSPAN12 gene, is a genetic disorder that affects the eyes. It can lead to a variety of symptoms, impacting the quality of life of those affected. Understanding the symptoms and the availability of genetic testing can provide crucial information for managing this condition. DNA Labs UAE […]
Symptoms and Testing information for VSX1 Gene Corneal dystrophy posterior polymorphous type 1 Genetic Test
Corneal dystrophies are a group of genetic eye disorders that primarily affect the cornea, the clear outer layer of the eye. Among these, Posterior Polymorphous Corneal Dystrophy type 1 (PPCD1) is a rare condition that can lead to vision impairment and, in severe cases, loss of vision. It is primarily associated with mutations in the […]