Albinism, oculocutaneous, type II
| Disorder | |
|---|---|
| OMIM #: | #203200 (Click to access OMIM database) |
| Disorder: | Albinism, oculocutaneous, type II |
| Also known as: | OCULOCUTANEOUS ALBINISM, TYPE II OCULOCUTANEOUS ALBINISM, TYROSINASE-POSITIVE ALBINISM II |
| Clinical | |
| Phenotype: | completely hypopigmented skin at birth with little change upon aging, decreased visual acuity, nystagmus, ocular albinism, unusual patterning or coloration of iris, foveal hypoplasia, strabismus, hyperopia, myopia, astigmatism, visible choroidal vessels |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | OCA2 |
| Base Change: | A>G, at nucleotide 823 |
| Amino Acid Change: | thr 275 --> ala |
| 2 Old Order Mennonite | |
| Gene: | OCA2 |
| Base Change: | G>T, at nucleotide 2433 |
| Amino Acid Change: | arg 811 --> ser |
| Last updated: | 2022-11-01 |
| References |
|---|
| Strauss KA, Gonzaga-Jauregui C, Brigatti KW, Williams KB, King AK, Van Hout C, Robinson DL, Young M, Praveen K, Heaps AD, Kuebler M, Baras A, Reid JG, Overton JD, Dewey FE, Jinks RN, Finnegan I, Mellis SJ, Shuldiner AR, Puffenberger EG. (2018) Genomic diagnostics within a medically underserved population: efficacy and implications. Genet Med Jan;20(1):31-41. PubMed ID: 28726809 |
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