Table 1

Clinical and molecular findings in OCA-2 patients

Pt/age/sex*Ethnicity†Visual acuityBleedingGI††Infections**PulmonaryMutations
*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/MAAm/Ger-Iri-PR20/300NoneNoneOtitis (7), sinusitis (2), mastitis, impetigoNA‡2.7 kb del(ex7)/1327G>A
2/2/FFre-Can/Fre-CanNABruisingCrampOtitis (4), urinary tract infectionAsthma2207C>T/NA
3/22/FGer/Eng20/50NoneNoneOtitis frequent, pneumonias (5), sinusitis, yeastAsthma, normal CT1327G>A/NA
4/29/FAsh/Ash20/100ITP§IBS¶Infectious mononucleosisNone79C>A/79C>A
5/32/FAAm/Dut20/250Transfusion after surgeryNoneOtitis frequent, pneumonias (3), urinary tract infectionAsthma, dyspnea2.7 kb del(ex7)/819CTGG>GGTC