Clinical and molecular findings in OCA-2 patients
| Pt/age/sex* | Ethnicity† | Visual acuity | Bleeding | GI†† | Infections** | Pulmonary | Mutations |
|---|---|---|---|---|---|---|---|
| *Pt, patient number; †AAm, African American; Ger, German; Iri, Irish; PR, Puerto Rican; Fre-Can, French Canadian; Eng, English; Ash, Ashkenazi Jewish; Dut, Dutch; ‡NA, not available; §ITP, idiopathic thrombocytopenic purpura; ††GI, gastrointestinal; ¶IBS, irritable bowel syndrome; **numbers in the parentheses indicate the numbers of infections. | |||||||
| 1/1/M | AAm/Ger-Iri-PR | 20/300 | None | None | Otitis (7), sinusitis (2), mastitis, impetigo | NA‡ | 2.7 kb del(ex7)/1327G>A |
| 2/2/F | Fre-Can/Fre-Can | NA | Bruising | Cramp | Otitis (4), urinary tract infection | Asthma | 2207C>T/NA |
| 3/22/F | Ger/Eng | 20/50 | None | None | Otitis frequent, pneumonias (5), sinusitis, yeast | Asthma, normal CT | 1327G>A/NA |
| 4/29/F | Ash/Ash | 20/100 | ITP§ | IBS¶ | Infectious mononucleosis | None | 79C>A/79C>A |
| 5/32/F | AAm/Dut | 20/250 | Transfusion after surgery | None | Otitis frequent, pneumonias (3), urinary tract infection | Asthma, dyspnea | 2.7 kb del(ex7)/819CTGG>GGTC |