Acta Scientific Clinical Case Reports

Case ReportVolume 4 Issue 2

A Case Report to Describe Peculiar Ocular Lesions at Today Not Well Characterized in the Spectrum of this Disease

Paolo Amato* and Alessandro Mularoni

ISS, Ospedale di Stato della Repubblica di San Marino, Via la Toscana, 4, Cailungo, San Marino

*Corresponding Author: Paolo Amato, Ophthalmologist, ISS, Ospedale di Stato della Repubblica di San Marino, Via la Toscana, 4, Cailungo, San Marino.

Received: December 20, 2022; Published: January 10, 2023

Abstract

Background: To describe the ocular findings in a 44-year-old white female in whom a diagnosis of Gorlin Syndrome was confirmed by genetic testing, which identified a homozygous mutation in PTCH-1 gene.

Methods: Observational case report of a 44-year-old female who presented with multiple cutaneous basal cell carcinoma, nystagmus, myelinated nerve fiber layer, iris leiomyoma, ovarian leiomyoma and skeletal abnormalities such as prominent frontal bone.

Results: Clinical examination and multimodal imaging documented presence of myelinated nerve fiber layer and whitish nodular iris lesion with leiomyomatous appearance.

Conclusion: Recognition that ocular abnormalities in Gorlin syndrome are frequent with a various range of prevalence. To the best of our knowledge, the following is the first report in the ophthalmic literature of iris and retinal lesion in a patient with a genetically confirmed Gorlin syndrome.

Keywords: Gorlin; Gorlin Syndrome; Gorlin-Goltz Syndrome; Genetics; Ocular Syndrome; Leiomyoma; Myelinated Nerve Fiber; Cancer; Basal Naevus Syndrome; Basal Cells Carcinoma; Erivedge; Ocular Oncology

Bibliography

  1. Farndon PA., et al. “Location of gene for Gorlin syndrome”. Lancet8793 (1992): 581-582.
  2. Pratt MD and Jackson R. “Nevoid basal cell carcinoma syndrome. A 15-year follow-up of cases in Ottawa and the Ottawa Valley”. Journal of the American Academy of Dermatology5 (1987): 964-970.
  3. Moramarco A., et al. “Ocular manifestations in Gorlin-Goltz syndrome”. Orphanet Journal of Rare Diseases 1 (2019): 218.
  4. Basset-Séguin N., et al. “Vismodegib in patients with advanced basal cell carcinoma: Primary analysis of STEVIE, an international, open-label trial”. European Journal of Cancer 86 (2017): 334-348.
  5. Smith MJ., et al. “Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations”. Journal of Clinical Oncology36 (2014): 4155-4161.
  6. Marigo V., et al. “Biochemical evidence that patched is the Hedgehog receptor”. Nature 6605 (1996): 176-179.

Citation: Paolo Amato and Alessandro Mularoni. “A Case Report to Describe Peculiar Ocular Lesions at Today Not Well Characterized in the Spectrum of this Disease". Acta Scientific Clinical Case Reports 4.2 (2023): 17-19.

Copyright: © 2022 Paolo Amato* and Alessandro Mularoni. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.



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