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Gorlin's syndrome. Case report

C Salati1, G Virgili, U Menchini

  • 1Department of Ophthalmology, University of Udine, Italy.

European Journal of Ophthalmology
|January 1, 1997
PubMed
Summary
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Gorlin's syndrome (GS) is a rare genetic disorder. This case highlights unexpected peripheral retinal breaks, retinal detachment, and retinoschisis in a GS patient, expanding the known ocular manifestations of this condition.

Area of Science:

  • Ophthalmology
  • Genetics
  • Dermatology

Background:

  • Gorlin's syndrome (GS) is an autosomal dominant genetic disorder.
  • GS is characterized by multiple basal-cell carcinomas, pits, cysts, and calcifications.
  • Ocular defects like chalazions and squinting are common in GS.

Observation:

  • A patient diagnosed with Gorlin's syndrome presented for an ophthalmology consultation.
  • During the examination, multiple peripheral retinal breaks were incidentally discovered.
  • Partial retinal detachment and retinoschisis were also identified in the patient.

Findings:

  • The case reveals previously undocumented peripheral retinal breaks in a patient with Gorlin's syndrome.
  • This finding suggests a broader spectrum of retinal pathology associated with GS.

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  • The co-occurrence of retinal breaks, detachment, and retinoschisis is a significant observation.

    • Implications:

    • These findings expand the known ocular manifestations of Gorlin's syndrome.
    • Ophthalmologists should consider comprehensive retinal evaluations for GS patients.
    • Further research is warranted to understand the link between GS and retinal pathologies.