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Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes (or one blue eye and one brown eye), a white forelock or patches of light skin.
Blue cone monochromacy (BCM) is an inherited eye disease that causes severe color blindness, poor visual acuity, nystagmus, hemeralopia, and photophobia due to the absence of functional red (L) and green (M) cone photoreceptor cells in the retina. BCM is a recessive X-linked disease and almost exclusively affects XY karyotypes.
Albinism is a congenital condition characterized in humans by the partial or complete absence of pigment in the skin, hair and eyes. Albinism is associated with a number of vision defects, such as photophobia, nystagmus, and amblyopia. Lack of skin pigmentation makes for more susceptibility to sunburn and skin cancers.
As humans typically exhibit three classes of cones, cone monochromats can hypothetically derive their photopic vision from any one of them, leading to three categories of cone monochromats: [4] Blue cone monochromacy (BCM), also known as S-cone monochromacy, is an X-linked cone disease. [ 5 ]
Rarer genetic conditions causing color blindness include congenital blue–yellow color blindness (tritan type), blue cone monochromacy, and achromatopsia. Color blindness can also result from physical or chemical damage to the eye, the optic nerve, parts of the brain, or from medication toxicity. [2] Color vision also naturally degrades in old ...
Pediatrics, medical genetics, orthopedics: Symptoms: Bones that break easily, blue tinge to the sclera (whites of the eye), short height, joint hypermobility, hearing loss [5] Onset: Birth: Duration: Long term: Causes: Genetic (autosomal dominant or de novo mutation) [6] Diagnostic method: Based on symptoms, DNA testing: Prevention: Pre ...
Albinism is the congenital absence of melanin in an animal or plant resulting in white hair, feathers, scales and skin and reddish pink or blue eyes. [1] [2] Individuals with the condition are referred to as albinos. Varied use and interpretation of the terms mean that written reports of albinistic animals can be difficult to verify.
Life expectancy for type A is approximately 10 to 20 years. These symptoms are seen in CS type 1 children. Cockayne syndrome type B (CSB), also known as "cerebro-oculo-facio-skeletal (COFS) syndrome" (or "Pena-Shokeir syndrome type B"), is the most severe subtype. Symptoms are present at birth and normal brain development stops after birth.