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Ocular manifestations in the Hutchinson-Gilford progeria syndrome

Shivcharan L Chandravanshi1, Ashok Kumar Rawat, Prem Chand Dwivedi

  • 1Department of Ophthalmology, S. S. Medical College, Rewa, MP, India. dr_scl@rediffmail.com

Indian Journal of Ophthalmology
|October 21, 2011
PubMed

Insights

Hutchinson-Gilford progeria syndrome, a rare genetic condition causing accelerated aging in children, presents with distinct ocular features. This case highlights additional, less common eye abnormalities in a 15-year-old boy with HGP.

Area of Science:

  • Genetics
  • Pediatrics
  • Ophthalmology

Background:

  • Hutchinson-Gilford progeria (HGP) syndrome is a rare genetic disorder causing premature aging in children.
  • It results from a de novo dominant mutation in the LMNA gene.
  • HGP is associated with growth retardation and accelerated degeneration of skin, musculoskeletal, and cardiovascular systems.

Observation:

  • Common ocular findings in HGP include prominent eyes, alopecia (loss of eyebrows and eyelashes), and lagophthalmos (incomplete eyelid closure).
  • This case report details a 15-year-old Indian male with HGP.
  • Additional ocular manifestations observed were horizontal palpebral fissure narrowing, superior sulcus deformity, upper lid retraction, upper lid lag, and poor pupillary dilatation.

Findings:

  • The case illustrates a spectrum of ocular manifestations in Hutchinson-Gilford progeria syndrome.
  • Specific additional findings expand the known ocular phenotype of HGP.
  • This presentation emphasizes the importance of comprehensive ophthalmological evaluation in HGP patients.

Implications:

  • Understanding the full range of HGP ocular features can aid in early diagnosis and management.
  • Further research into LMNA gene mutations may reveal genotype-phenotype correlations for ocular findings.
  • This case contributes to the literature on rare genetic disorders and their impact on ocular health.

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