Leber’s Hereditary Optic Neuropathy (LHON) is a rare genetic disorder that primarily affects the eyes and vision. It is characterized by the sudden loss of central vision, which is crucial for tasks such as reading, driving, and recognizing faces. LHON is caused by mutations in the mitochondrial DNA, and it is therefore inherited in a […]
Ophthalmology Diseases
Symptoms and Testing information for PAX6 Gene Foveal hypoplasia type 1 Genetic Test
Foveal hypoplasia is a rare genetic condition that affects the development of the fovea, the central pit in the eye where visual acuity is highest. This condition can result in significant visual impairment. One of the genes associated with foveal hypoplasia is the PAX6 gene. Mutations in this gene can lead to Foveal Hypoplasia type […]
Symptoms and Testing information for AP3B1 Gene Hermansky-Pudlak syndrome type 2 Genetic Test
Hermansky-Pudlak Syndrome (HPS) is a rare genetic disorder that affects multiple organs of the body. It is characterized by a lack of pigmentation (albinism), bleeding disorders, and lung and bowel diseases. Among its types, Hermansky-Pudlak Syndrome type 2 (HPS-2) is caused by mutations in the AP3B1 gene. This particular type not only shares common symptoms […]
Symptoms and Testing information for PRPH2 Gene Fundus albipunctatus Genetic Test
In the realm of genetic diagnostics, understanding the intricate details of specific genetic conditions is crucial for both patients and healthcare providers. One such condition that has garnered attention for its impact on vision is Fundus albipunctatus, a disorder linked to mutations in the PRPH2 gene. DNA Labs UAE stands at the forefront of genetic […]
Symptoms and Testing information for HPS3 Gene Hermansky-Pudlak syndrome type 3 Genetic Test
Understanding Hermansky-Pudlak Syndrome Type 3 (HPS3) Hermansky-Pudlak Syndrome (HPS) is a rare genetic disorder that affects multiple organs of the body. Among its various types, Type 3, caused by mutations in the HPS3 gene, is significant for its clinical manifestations. It is characterized by a triad of symptoms: oculocutaneous albinism (a condition affecting the coloring […]
Symptoms and Testing information for RDH5 Gene Fundus albipunctatus Genetic Test
Genetic testing has become a cornerstone in the diagnosis and understanding of various genetic disorders. One such condition that has seen significant advancements in terms of diagnostic procedures is Fundus Albipunctatus, a rare form of stationary night blindness associated with mutations in the RDH5 gene. DNA Labs UAE is at the forefront of providing comprehensive […]
Symptoms and Testing information for ROBO3 Gene Gaze palsy horizontal with progressive scoliosis Genetic Test
In the quest to understand the complex nature of genetic disorders, DNA Labs UAE stands at the forefront of medical science, offering comprehensive testing services that illuminate the path to diagnosis and treatment. Among the myriad of tests available, the ROBO3 Gene Gaze Palsy Horizontal with Progressive Scoliosis Genetic Test is a critical tool for […]
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
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
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 […]