J Pediatr Genet 2018; 07(02): 086-091
DOI: 10.1055/s-0037-1612638
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Case Report of Proliferative Peripheral Retinopathy in Two Familial Lissencephaly Infants with Miller–Dieker Syndrome

Omar Shoukfeh
1   Department of Ophthalmology, Louisiana State University Health Sciences Center, Shreveport, Louisiana, United States
,
Alan B. Richards
1   Department of Ophthalmology, Louisiana State University Health Sciences Center, Shreveport, Louisiana, United States
,
Leonard A. Prouty
2   Departments of Pathology and Pediatrics, Louisiana State University Health Sciences Center, Shreveport, Louisiana, United States
,
John Hinrichsen
1   Department of Ophthalmology, Louisiana State University Health Sciences Center, Shreveport, Louisiana, United States
,
William Rand Spencer
3   Texas Retina Associates, Dallas, Texas, United States
,
Marlyn P. Langford
1   Department of Ophthalmology, Louisiana State University Health Sciences Center, Shreveport, Louisiana, United States
› Institutsangaben

Funding None.
Weitere Informationen

Publikationsverlauf

16. August 2017

15. November 2017

Publikationsdatum:
29. Dezember 2017 (online)

Preview

Abstract

A complete ophthalmic examination is not routinely performed on infants with Miller–Dieker syndrome (MDS, chromosome 17p13.3 microdeletion). The authors present the cases of four cousins with MDS who also carried a 16p13.3 microduplication (not associated with Rubinstein–Taybi syndrome). Retinopathy of prematurity-like proliferative peripheral retinopathy (PPR) was detected in two male first cousins, but was not detected in the female half-cousins. PPR in the first infant resolved by 4 months, but the second infant's PPR progressed, requiring photocoagulation followed by lens-sparing vitrectomy. While ocular abnormalities are more prevalent and severe in other lissencephalopathies, the PPR in these MDS infants underscores the sight-saving potential of performing an ophthalmologic exam with early molecular testing for all lissencephaly infants.

Availability of Data and Materials

All the data supporting the findings of this study are available from the LSU Health, Shreveport, but restrictions apply to the availability of these data, which were used under the Internal Review Board (IRB) approval for the current study, and so are not publicly available. However, data are available upon reasonable request from the author(s) and with permission of the LSU Health, Shreveport IRB.


Authors' Contributions

O.S.: Patient interaction, literature research, and initial drafting of the manuscript. A.B.R.: Patient interaction, patient diagnosis, literature research, critical revision, and language editing. L.A.P.: Literature research, evaluated the gene analysis, and made critical revision. J.H.: Patient interaction and patient diagnosis. W.R.S.: Operated on the patient, consented, and took the fundus photographs. M.P.L.: Literature research, critical revision, language editing, drafting, and submission of the manuscript. All authors have read and approved the final manuscript.


Note

Written informed consent was obtained from the parents for publication of the accompanying deidentified images.


Ethics Approval and Consent to Participate

This study was approved by the Ethics Committee of the LSU Health Sciences Center, Shreveport (FWA 00000653), and adheres to the tenets of the Declaration of Helsinki.