RT Book, Section
A1 Bianchi, Diana W.
A1 Crombleholme, Timothy M.
A1 D'Alton, Mary E.
A1 Malone, Fergal D.
SR Print(0)
ID 1106397181
T1 Microphthalmia/Anophthalmia
T2 Fetology: Diagnosis and Management of the Fetal Patient, 2e
YR 2015
FD 2015
PB McGraw-Hill Education
PP New York, NY
SN 978-0-07-144201-5
LK obgyn.mhmedical.com/content.aspx?aid=1106397181
RD 2024/04/16
AB Key  PointsMicrophthalmia,  anophthalmia,  and  coloboma  represent  a  spectrum  of  developmental  anomalies  of  the  eye  known  as  MAC.Prevalence  is  1  in  10,000  births.  Approximately  10%  of  affected  children  have  a  chromosome  abnormality.  There  may  be  an  increased  incidence  of  MAC  in  mothers  older  than  age  40  and  in  multiple  gestation.Nomograms  exist  for  normal  fetal  eye  measurements  at  12  to  37  weeks’  gestation.  Refer  for  targeted  fetal  anatomical  evaluation  because  of  high  likelihood  of  associated  anomalies.Strongly  associated  with  chromosome  abnormalities  and  single-gene  disorders.Karyotype  is  indicated.  If  bilateral  anophthalmia  is  present,  consider  DNA  testing  for  SOX2  mutations.Refer  for  consultation  with  medical  geneticist  and  pediatric  ophthalmologist.Progress  depends  on  severity  of  eye  defects  and  presence  of  associated  anomalies.  Recurrence  risk  depends  on  syndromic  diagnosis.Many  developmental  gene  mutations  are  being  identified  as  underlying  basis  of  MAC.