Symptoms of OCA2 Gene Albinism Oculocutaneous Type 2 Oculocutaneous albinism type 2 (OCA2), caused by mutations in the OCA2 gene, is a genetic condition characterized by reduced pigmentation in the hair, skin, and eyes. This form of albinism, while affecting melanin production, varies significantly in terms of its presentation among individuals, with symptoms ranging from […]
Ophthalmology Diseases
Symptoms and Testing information for TYRP1 Gene Albinism Oculocutaneous Type 3 Genetic Test
Albinism is a group of genetic disorders characterized by a reduced amount of melanin pigment in the skin, hair, and eyes. Among the various types of albinism, Oculocutaneous Albinism Type 3 (OCA3), also known as rufous or red albinism, is caused by mutations in the TYRP1 gene. This particular form of albinism is less common […]
Symptoms and Testing information for SLC45A2 Gene Albinism Oculocutaneous Type 4 Genetic Test
Albinism is a group of genetic disorders characterized by a reduction or complete lack of melanin pigment in the skin, hair, and eyes. Among the various types of albinism, Oculocutaneous Albinism Type 4 (OCA4), caused by mutations in the SLC45A2 gene, is one of the less common forms. Understanding the symptoms and genetic basis of […]
Symptoms and Testing information for C10ORF11 Gene Albinism Oculocutaneous Type 5 Genetic Test
Albinism is a group of genetic disorders characterized by a reduction or complete lack of melanin pigment in the skin, hair, and eyes. Among its various types, Oculocutaneous Albinism Type 5 (OCA5), associated with mutations in the C10ORF11 gene, is relatively less understood due to its recent discovery. Recognizing the symptoms associated with this genetic […]
Symptoms and Testing information for PAX6 Gene Aniridia Genetic Test
Symptoms of PAX6 Gene Aniridia Genetic Test Aniridia is a rare genetic disorder characterized by the underdevelopment of the iris in the eye, which is the colored part surrounding the pupil. This condition is primarily associated with mutations in the PAX6 gene, a critical factor in eye development during the embryonic stage. Recognizing the symptoms […]
Symptoms and Testing information for PITX3 Gene Anterior Segment Mesenchymal Dysgenesis Genetic Test
Symptoms of PITX3 Gene Anterior Segment Mesenchymal Dysgenesis Genetic Test Understanding the genetic basis of eye disorders can significantly improve the quality of life for those affected. Among these genetic conditions, anterior segment mesenchymal dysgenesis (ASMD) is a rare, inherited eye disorder that can lead to a range of symptoms affecting the anterior segment of […]
Symptoms and Testing information for CEP290 Gene Bardet-Biedl Syndrome Type 14 Genetic Test
Bardet-Biedl Syndrome (BBS) is a complex genetic disorder that affects many parts of the body. Among the various types of this syndrome, Type 14, linked to mutations in the CEP290 gene, is one of the rare forms. Recognizing the symptoms of this condition is crucial for early diagnosis and management. DNA Labs UAE offers a […]
Symptoms and Testing information for BEST1 Gene Bestrophinopathy Genetic Test
In the realm of genetic testing, advancements have paved the way for the identification and understanding of various genetic disorders that affect individuals worldwide. Among these is Bestrophinopathy, a condition associated with mutations in the BEST1 gene. DNA Labs UAE stands at the forefront of this scientific endeavor, offering comprehensive genetic testing services to diagnose […]
Symptoms and Testing information for CYP4V2 Gene Bietti Crystalline Corneoretinal Dystrophy Genetic Test
Symptoms of CYP4V2 Gene Bietti Crystalline Corneoretinal Dystrophy Bietti Crystalline Corneoretinal Dystrophy (BCCD) is a rare genetic condition that affects the retina, leading to progressive vision loss. This condition is caused by mutations in the CYP4V2 gene, which plays a crucial role in lipid metabolism within the eye. Recognizing the symptoms of BCCD is essential […]
Symptoms and Testing information for FOXL2 Gene Blepharophimosis Epicanthus Inversus and Ptosis Genetic Test
The FOXL2 gene plays a critical role in the development of the eyelids and ovaries. Mutations in this gene can lead to a condition known as Blepharophimosis, Epicanthus Inversus, and Ptosis (BPES), a rare disorder that affects the eyes and, in some cases, fertility. Recognizing the symptoms of BPES is crucial for early diagnosis and […]