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

Omar Shoukfeh1, Alan B Richards1, Leonard A Prouty2

  • 1Department of Ophthalmology, Louisiana State University Health Sciences Center, Shreveport, Louisiana, United States.

Journal of Pediatric Genetics
|May 1, 2018
PubMed

Insights

Miller-Dieker syndrome (MDS) infants may develop retinopathy of prematurity-like proliferative peripheral retinopathy (PPR). Early ophthalmic exams and molecular testing are crucial for sight-saving interventions in lissencephaly patients.

Area of Science:

  • Genetics
  • Ophthalmology
  • Developmental Biology

Background:

  • Miller-Dieker syndrome (MDS) is a lissencephaly associated with a 17p13.3 microdeletion.
  • Ophthalmic examinations are not standard for infants diagnosed with MDS.
  • Co-occurring genetic anomalies can influence phenotypic presentation.

Observation:

  • Four cousins with MDS and a 16p13.3 microduplication were studied.
  • Two male cousins presented with retinopathy of prematurity-like proliferative peripheral retinopathy (PPR).
  • PPR varied in severity, with one case requiring surgical intervention.

Findings:

  • Proliferative peripheral retinopathy (PPR) was observed in male infants with MDS and 16p13.3 microduplication.
  • The ocular findings highlight a potential link between specific genetic deletions/duplications and retinal abnormalities.
  • Early detection of PPR is critical for timely management.

Implications:

  • Routine ophthalmic screening in infants with MDS and other lissencephalies is recommended.
  • Early molecular genetic testing alongside ophthalmologic exams can facilitate prompt diagnosis and treatment.
  • This case series emphasizes the importance of comprehensive evaluations for syndromic conditions with potential ocular manifestations.
Keywords:
LIS1 genePDIA2SERPINF1agyriapediatricretina

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