Search results
Results from the WOW.Com Content Network
HERC2. HERC2 is a giant E3 ubiquitin protein ligase, implicated in DNA repair regulation, pigmentation and neurological disorders. It is encoded by a gene of the same name belonging to the HERC family, which typically encodes large protein products with C-terminal HECT domains and one or more RCC1 -like (RLD) domains. [1] [2]
Neurofibromatosis type I (NF-1), or von Recklinghausen syndrome, is a complex multi-system human disorder caused by the mutation of neurofibromin 1 (NF-1), a gene on chromosome 17 that is responsible for production of a protein (neurofibromin) which is needed for normal function in many human cell types. NF-1 causes tumors along the nervous ...
Frequency. ~250–300 children diagnosed annually (United States) [1] Retinoblastoma (Rb) is a rare form of cancer that rapidly develops from the immature cells of a retina, [2] the light-detecting tissue of the eye. [3] It is the most common primary malignant intraocular cancer in children, especially those under 3 years old.
Chronic progressive external ophthalmoplegia ( CPEO) is a type of eye disorder characterized by slowly progressive inability to move the eyes and eyebrows. [ 1] It is often the only feature of mitochondrial disease, in which case the term CPEO may be given as the diagnosis. In other people suffering from mitochondrial disease, CPEO occurs as ...
Leber's hereditary optic neuropathy ( LHON) is a mitochondrially inherited (transmitted from mother to offspring) degeneration of retinal ganglion cells (RGCs) and their axons that leads to an acute or subacute loss of central vision; it predominantly affects young adult males. LHON is transmitted only through the mother, as it is primarily due ...
These melanocytes are distinct from the retinal pigment epithelium cells underlying the retina that do not form melanomas. When eye melanoma is spread to distant parts of the body, the five-year survival rate is about 15%. [5] It is the most common type of primary eye cancer. [3] Males and females are affected equally. [6]
The procedure is designed to treat “limbal stem cell deficiency,” a corneal disorder that can occur after chemical burns and other eye injuries. Patients without limbal cells, which are ...
Light from a single point of a distant object and light from a single point of a near object being brought to a focus. The accommodation reflex (or accommodation-convergence reflex) is a reflex action of the eye, in response to focusing on a near object, then looking at a distant object (and vice versa), comprising coordinated changes in vergence, lens shape (accommodation) and pupil size.