ReviewThe clinical spectrum of albinism in humans
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2023, Entertainment ComputingCurrent and emerging treatments for albinism
2021, Survey of OphthalmologyCitation Excerpt :The defect in OCA2 has been shown to cause tyrosinase to accumulate in the endoplasmic reticulum or Golgi apparatus and is eventually secreted from the cell, rather than reaching melanosomes.107,166 Phenotypically, OCA2 is milder than OCA1, but the spectrum of pigmentation is broad, ranging from almost no cutaneous pigmentation to virtually normal.128 Visual dysfunction is also less severe compared with OCA1.56
Daylight Photodynamic Therapy in the Treatment of Actinic Keratosis in Carriers of Oculocutaneous Albinism: Report of Three Cases
2019, Actas Dermo-SifiliograficasComputational analysis of deleterious SNPs of SLC45A2 involved in oculocutaneous albinism type 4
2018, Gene ReportsCitation Excerpt :Albinism is a type of inborn errors of metabolism characterized by a decrease in pigmentation due to deficiency of tyrosinase in the melanin biosynthesis pathway (Garrod, 1923). This group of congenital disorders is classified into two main types, namely (i) Ocular albinism (OA) an albinism disorder involving complete absence of pigmentation in the eyes and (ii) Oculocutaneous albinism (OCA), a disorder involving absence of pigmentation or presence of hypopigmentation in the skin, hair and eyes (Oetting et al., 1996). OCA is further categorized into seven sub-types, namely OCA1 (TYR), OCA2 (OCA2), OCA3 (TYRP1), OCA4 (SLC45A2), OCA5 (mapped to chr.4q24), OCA6 (SLC24A5) and OCA7 (C10orf11) (Montoliu et al., 2014) based on multiple heterogeneity and in each sub-type a different gene is found to be mutated.
Clinical Features, Types of Albinism, and Natural History
2018, Albinism in Africa: Historical, Geographic, Medical, Genetic, and Psychosocial Aspects