Tag: vision problems

  • Skull Base Chordoma

    Skull Base Chordoma: Definition and Description of Skull Base Chordoma: Skull base chordoma is a rare type of bone cancer that occurs at the base of the skull and the spine. These tumors arise from remnants of the notochord, a structure that is present during embryonic development. As chordomas are slow-growing tumors, they may not…

  • KTW Syndrome

    KTW Syndrome Definition and Description of KTW Syndrome KTW Syndrome is a rare genetic disorder characterized by notable craniofacial abnormalities, growth deficiencies, and various systemic issues. The acronym “KTW” refers to the surnames of the researchers who first described the condition. Patients with KTW Syndrome may exhibit distinctive features, including low-set ears, a broad nose,…

  • Homocystinuria

    Homocystinuria Definition and Description of Homocystinuria Homocystinuria is a rare genetic disorder that results in an abnormal buildup of homocysteine in the blood. It is classified as an inherited metabolic disorder where the body is unable to properly process certain amino acids, particularly methionine, leading to elevated levels of homocysteine. This condition can result in…

  • Expanded Rubella Syndrome

    Expanded Rubella Syndrome Definition and Description of Expanded Rubella Syndrome Expanded Rubella Syndrome (ERS) refers to a group of congenital defects caused by rubella infection during the first trimester of pregnancy. It is characterized by a set of symptoms affecting multiple organ systems, which can include cardiovascular issues, ophthalmologic abnormalities, and hearing impairments. Medically, ERS…

  • Cross-Eyes (Strabismus)

    Cross-Eyes (Strabismus) Definition and Description of Cross-Eyes (Strabismus) Cross-Eyes, medically known as Strabismus, is a condition characterized by the misalignment of the eyes. In this condition, one eye may turn inwards, outwards, upwards, or downwards while the other eye remains focused. This misalignment can be constant or intermittent and can significantly affect a person’s vision…

  • Cataracts

    Cataracts Definition and Description of Cataracts Cataracts are a clouding of the lens in the eye, which can lead to a decrease in vision. Medically, they are defined as a condition where the natural lens of the eye becomes opaque, resulting in blurry or dimmed vision. While cataracts are often associated with aging, they can…

  • Albinism

    Albinism Definition and Description of Albinism Albinism is a genetic condition characterized by the absence or deficiency of melanin, the pigment responsible for the color of skin, hair, and eyes. Medically defined, albinism results from mutations in the genes that control melanin production. Individuals with albinism often present with very light or white hair, pale…

  • Albinismus

    Albinismus Definition and Description of Albinismus Albinismus, or albinism, is a genetic condition characterized by a deficiency in the production of melanin, the pigment responsible for the color of skin, hair, and eyes. This condition occurs due to mutations in genes responsible for melanin production, leading to reduced pigmentation in various body parts. Individuals with…