A case report of retinal dystrophy in patients with PACS1 syndrome

Ophthalmic Genet. 2024 Feb;45(1):103-107. doi: 10.1080/13816810.2023.2216272. Epub 2023 May 23.

Abstract

PACS1 syndrome, also referred to as Schuurs-Hoeijmakers syndrome, is a multisystemic developmental disorder caused by a specific pathogenic variant in the PACS1 (phosphofurin acidic cluster sorting protein 1) gene. Ocular findings in PACS1 syndrome are known to include iris, retina, optic nerve coloboma, myopia, nystagmus, and strabismus. Here, we present the cases of two patients referred to the University of Wisconsin-Madison Department of Ophthalmology and Visual Sciences for ocular evaluation. The first patient is a 14-month-old female who, at 3 months of age, was found to have a depressed rod and cone response on electroretinogram (ERG), consistent with possible retinal dystrophy (RD). This feature has not been previously described in PACS1 syndrome and joins a growing list of calls for expanding the PACS1 phenotype. The second case illustrates a 5-year-old male referred for ocular screening after diagnosing PACS1 syndrome and underwent ERG without abnormal findings. These cases demonstrate the significant variability in the ophthalmic presentation of PACS1 syndrome and the need for early screening. These novel findings may have implications in understanding the mechanism of the PACS1 protein and its role in retinal ciliary phototransduction in photoreceptors.

Keywords: PACS1 syndrome; Schuurs-Hoeijmakers syndrome; electroretinogram; retinal dystrophy; rod-cone dysfunction.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Electroretinography
  • Female
  • Humans
  • Infant
  • Male
  • Retina
  • Retinal Cone Photoreceptor Cells / physiology
  • Retinal Dystrophies* / diagnosis
  • Retinal Dystrophies* / genetics
  • Syndrome
  • Vesicular Transport Proteins

Substances

  • PACS1 protein, human
  • Vesicular Transport Proteins