Albinism: Ocular and Oculocutaneous Albinism and Hermansky‐Pudlak Syndrome

King, Richard A.; Summers, C. Gail

doi:10.1002/9780470893159.ch5

Cited by 3 publications

(1 citation statement)

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“…Except for OCA1A, OCA1B, and the other OCA subtypes develop some pigmentation over their lifetime. Individuals with OCA1B develop some pigmentation over their lifetime (Grønskov and Brondum-Nielsen, 2007;King and Summers, 2010). Mutations in OCA2, TYRP1, SLC45A2, SLC24A5, and LRMDA have been attributed to subtypes OCA2, OCA3, OCA4, OCA6, and OCA7, respectively (Rinchik et al, 1993;Boissy et al, 1996;Newton et al, 2001;Grønskov et al, 2013;Wei et al, 2013;Montoliu et al, 2014;Morice-Picard et al, 2014).…”

Section: Introductionmentioning

confidence: 99%

Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort

et al. 2020

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Oculocutaneous albinism (OCA) is a genetic disorder characterized by skin, hair, and eye hypopigmentation due to a reduction or absence of melanin. Clinical manifestations include vision problems and a high susceptibility to skin cancer. In its non-syndromic form, OCA is associated with six genes and one chromosomal region. Because OCA subtypes are not always clinically distinguishable, molecular analysis has become an important tool for classifying types of OCA, which facilitates genetic counseling and can guide the development of new therapies. We studied eight Brazilian individuals aged 1.5-18 years old with clinical diagnosis of OCA. Assessment of ophthalmologic characteristics showed results consistent with albinism, including reduced visual acuity, nystagmus, and loss of stereoscopic vision. We also observed the appearance of the strabismus and changes in static refraction over a 2-year period. Dermatologic evaluation showed that no participants had preneoplastic skin lesions, despite half of the participants reporting insufficient knowledge about skin care in albinism. Wholeexome and Sanger sequencing revealed eight different mutations: six in the TYR gene and two in the SLC45A2 gene, of which one was novel and two were described in a population study but were not previously associated with the OCA phenotype. We performed two ophthalmological evaluations, 2 years apart; and one dermatological evaluation. To the best of our knowledge, this is the first study to perform clinical followup and genetic analysis of a Brazilian cohort with albinism. Here, we report three new OCA causing mutations.

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