Foveal Hypoplasia in Presumed Xeroderma Pigmentosum: A Case Report


Karatas E., Utine C. A., LEBE B., Kaya M.

Beyoglu Eye Journal, vol.9, no.3, pp.172-177, 2024 (Scopus) identifier identifier

  • Publication Type: Article / Article
  • Volume: 9 Issue: 3
  • Publication Date: 2024
  • Doi Number: 10.14744/bej.2024.58224
  • Journal Name: Beyoglu Eye Journal
  • Journal Indexes: Scopus
  • Page Numbers: pp.172-177
  • Keywords: Foveal hypoplasia, LYST gene, Xeroderma pigmentosum
  • Dokuz Eylül University Affiliated: Yes

Abstract

We present a case of presumed xeroderma pigmentosum (XP) with concomitant foveal hypoplasia. A 50-year-old male patient with extensive bilateral symblepharon-like pseudopterygia was referred for visual rehabilitation. After dermatology consultation and ophthalmologic examination, presumed XP was diagnosed. Optical coherence tomography revealed grade 2 foveal hypoplasia. The patient was referred for genetic testing because concomitant XP and foveal hypoplasia are rare. The genetic test results revealed mutations in some genes, including the hemochromatosis genes HFE, COL1A2, Lysosome Trafficking Regulator (LYST), NF1, and HMBS. The LYST gene is known to be associated with foveal hypoplasia. Since the association of foveal hypoplasia and XP has been reported in another case in the literature, we present our case to share this rare association.