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Br J Ophthalmol 82:189-195 doi:10.1136/bjo.82.2.189
  • Perspective

Albinism: modern molecular diagnosis

Table 1

Conditions of albinism

Type of albinism Gene position
OCA 1 11q14-21
 OCA 1A
 OCA 1B
OCA 2 15q11-13
OCA 3 9p23
OA 1 Xp22.3-22.2
?OA 2
Chediak–Higashi 1q42-44
Hermansky–Pudlak 10q23.1-23.3
Contiguous gene syndromes
 Prader–Willi (OCA 2) 15q11-13
 Angelman (OCA 2) 15q11-13
 Kallmann syndrome (OA 1) Xp22.3-22.4
 Late onset sensorineural deafness Xp22
  (OA 1) Xp22
 X linked ichthyosis and Kallmann syndrome (OA 1) Xp22
 Microphthalmia and linear skin defects (OA 1) Xp22
 Aicardi Xp22
 Goltz Xp22
Waardenburg 1 2q35-q37.3
Waardenburg 2 3p12
Waardenburg 3 2q35-q37.3
Warrdenburg–Hirschsprung 13q22

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