December 2002
Volume 43, Issue 13
Free
ARVO Annual Meeting Abstract  |   December 2002
Microcephaly Associated with Chorioretinal Abnormalities-Developmental Anomaly?
Author Affiliations & Notes
  • N Ameli
    Schepens Retina Associates Schepens Eye Research Institute Harvard Medical School Boston MA
  • T Hirose
    Schepens Retina Associates Schepens Eye Research Institute Harvard Medical School Boston MA
  • Footnotes
    Commercial Relationships   N. Ameli, None; T. Hirose, None.
Investigative Ophthalmology & Visual Science December 2002, Vol.43, 534. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      N Ameli, T Hirose; Microcephaly Associated with Chorioretinal Abnormalities-Developmental Anomaly? . Invest. Ophthalmol. Vis. Sci. 2002;43(13):534.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

Abstract: : Purpose:To report four unrelated patients with microcephaly and chorioretinal abnormalities ranging from chorioretinal atrophy to radial retinal folds (posterior persistent hyperplastic primary vitreous (PHPV)) and total retinal detachment associated with PHPV. Methods:Retrospective case review of four patients with microcephaly and chorioretinal abnormalities referred to Schepens Retina Associates for evaluation. Three patients underwent examination under general anesthesia, during which indirect ophthalmoscopy as well as examination of the anterior segment utilizing an operating microscope were performed. The remaining patient was evaluated by penlight and indirect ophthalmoscopy in the office. Results:Four patients with microcephaly and chorioretinal abnormalities were examined. The mean age upon presentation was 3.46 months (SD ±1.79). Two had chorioretinal atrophy inferiorly in one eye with a radial retinal fold in the fellow eye. One of these patients had pedal lymphedema in addition to microcephaly. The two remaining patients had bilateral total retinal detachments. Both of these patients also had pedal lymphedema. The father of one was of short stature with microcephaly and chorioretinal atrophy in both eyes. Conclusion:Although the association of microcephaly, lymphedema, and chorioretinal dysplasia has been previously described, our patients presented with a wide spectrum of chorioretinal abnormalities including: chorioretinal atrophy, radial retinal folds (posterior PHPV) and bilateral total retinal detachments. This group of patients suggests a possible continuum of chorioretinal abnormalities that may manifest in concert with microcephaly. The chorioretinal atrophy consistently manifested in the inferior retina, suggesting a possible relationship with closure of the embryonic cleft. This, along with findings consistent with PHPV in our patients that had total retinal detachments, point to a developmental anomaly.

Keywords: 564 retinal development • 563 retinal detachment • 554 retina 
×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×