Oculocutaneous albinism in Adult
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Synopsis

Eight subtypes of OCA have been recognized, caused by mutations in different genes.
The genes associated with OCA1-8 are listed below:
- OCA1: TYR – tyrosinase
- OCA2: OCA2 – P gene
- OCA3: TYRP1 – tyrosinase-related protein 1
- OCA4: SLC45A2 – solute carrier family 45 member 2
- OCA5: mapped to chromosome 4q24
- OCA6: SLC24A5 – solute carrier family 24 member 5
- OCA7: LRMDA – leucine-rich melanocyte differentiation associated
- OCA8: DCT- Dopachrome tautomerase
Pigmentary dilution of skin and hair occurs in all patients, but the degree of hypopigmentation varies with each type of albinism.
Ocular changes of OCA and ocular albinism (OA) include nystagmus, reduced visual acuity, strabismus, iris translucency, absent or reduced pigment of the retinal pigment epithelium, misrouting of the optic nerves, foveal hypoplasia, and photophobia.
Codes
ICD10CM:E70.329 – Oculocutaneous albinism, unspecified
SNOMEDCT:
63844009 – Oculocutaneous albinism
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Differential Diagnosis & Pitfalls
- Chediak-Higashi syndrome
- Hermansky-Pudlak syndrome
- Ocular albinism
- Homocystinuria
- Menkes kinky-hair syndrome
- Phenylketonuria
- Griscelli syndrome
- Waardenburg syndrome type 2 (albinism-deafness syndrome)
- Vici syndrome
- Tietz albinism-deafness syndrome
- Elejalde syndrome
- Prader-Willi and Angelman syndrome
- Total body vitiligo – epidermis lacks melanocytes
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Last Reviewed:01/30/2022
Last Updated:02/06/2022
Last Updated:02/06/2022