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Albinism in humans

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albinism in humans
Subclass ofalbinism Edit

Albinism be a congenital condition characterized insyd humans by de partial anaa complete absence of pigment insyd de skin, hair den eyes. Albinism be associated plus a number of vision defects, such as photophobia, nystagmus, den amblyopia. De visual abnormalities wey dey regard albinism be mainly caused by reduced melanin during optic development, wey dey lead to misrouting of optic nerve fibers den underdevelopment of de fovea.[1] Lack of skin pigmentation dey make for more susceptibility to sunburn den skin cancers. Insyd rare cases such as Chédiak–Higashi syndrome, albinism fi be associated plus deficiencies insyd de transportation of melanin granules. Dis sanso dey affect essential granules present insyd immune cells, wey dey lead to increased susceptibility to infection.[2]

Albinism dey result from inheritance of recessive gene alleles wey be known to affect all vertebrates, wey dey include humans. Chaw genes now be known to cause oculocutaneous albinism, wey include TYR, OSA2, TYRP1,SLC45A2, SLC24AB, den C10orf11, all of wich dey affect both melanin synthesis den melanosome function.[3] Unlike humans, oda animals get multiple pigments den for dese albinism be considered to be a hereditary condition wey de absence of melanin characterise, in particular insyd de eyes, skin, hair, scales, feathers anaa cuticle.[4] While an organism plus complete absence of melanin be called an albino, an organism plus a diminished amount of melanin per be described as leucistic anaa albinoid.[5] De term be from de Latin albus, "white".

Comorbidities

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Albinism sanso fi be a feature alongside several syndromes:[6]

  • ABCD syndrome
  • Albinism-hearing loss syndrome
  • Chédiak–Higashi syndrome, insyd partial albinism [7]
  • Deafness, congenital, plus total albinism
  • Ermine phenotype insyd partial albinism
  • Hermansky-Pudlak syndrome 1 to 11 (wey dey exclude 9)
  • Microcephaly-albinism-digital anomalies syndrome
  • Ocular albinism plus late-onset sensorineural deafness
  • Ocular albinism, type II
  • Oculocutaneous albinism types 1B, 3 to 7
  • Tyrosinase-negative oculocutaneous albinism
  • Tyrosinase-positive oculocutaneous albinism
  • Vici syndrome
  • Waardenburg syndrome, type 2A

References

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  1. ↑ Neveu, Magella M.; Padhy, Srikanta Kumar; Ramamurthy, Srishti; Takkar, Brijesh; Jalali, Subhadra; Cp, Deepika; Padhi, Tapas Ranjan; Robson, Anthony G. (2022-05-24). "Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives". Clinical Ophthalmology (in English). 16: 1569–1587. doi:10.2147/OPTH.S329282. PMC 9148211. PMID 35637898.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  2. ↑ Kaplan, J.; De Domenico, I.; Ward, D. M. (2008). "Chediak-Higashi syndrome". Current Opinion in Hematology. 15 (1): 22–29. doi:10.1097/MOH.0b013e3282f2bcce. PMID 18043242. S2CID 43243529.
  3. ↑ Montoliu, L., Grønskov, K., Wei, A. H., Martínez-García, M., Fernández, A., Arveiler, B., Morice-Picard, F., Riazuddin, S., Suzuki, T., Ahmed, Z. M., Rosenberg, T., & Li, W. (2014). Increasing the complexity: new genes and new types of albinism. Pigment cell & melanoma research, 27(1), 11–18. https://doi.org/10.1111/pcmr.12167
  4. ↑ "Albinism". Encyclopædia Britannica. Retrieved 27 January 2015.
  5. ↑ Tietz, W. (1963). "A Syndrome of Deaf-Mutism Associated with Albinism Showing Dominant Autosomal Inheritance". American Journal of Human Genetics. 15 (3): 259–264. PMC 1932384. PMID 13985019.
  6. ↑ "Albinism (Concept Id: C0001916)". www.ncbi.nlm.nih.gov (in English). Retrieved 2023-12-12.
  7. ↑ Ajitkumar, Anitha; Zeppieri, Marco (2026), "Chediak-Higashi Syndrome", StatPearls, Treasure Island (FL): StatPearls Publishing, PMID 29939658, retrieved 2026-05-15
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