June 2023
Volume 64, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2023
Mutations in CFAP410 cause a rare retinal dystrophy with a spectrum of phenotypes
Author Affiliations & Notes
  • Ryan Schmidt
    School of Medicine, Oregon Health & Science University School of Medicine, Portland, Oregon, United States
  • Amy Pohodich
    Oregon Health & Science University Casey Eye Institute, Portland, Oregon, United States
  • Mark E Pennesi
    Oregon Health & Science University Casey Eye Institute, Portland, Oregon, United States
  • Footnotes
    Commercial Relationships   Ryan Schmidt None; Amy Pohodich None; Mark Pennesi None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science June 2023, Vol.64, 4538. doi:
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      Ryan Schmidt, Amy Pohodich, Mark E Pennesi; Mutations in CFAP410 cause a rare retinal dystrophy with a spectrum of phenotypes. Invest. Ophthalmol. Vis. Sci. 2023;64(8):4538.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : Cilia and Flagella Associated Protein 410 (CFAP410) plays a vital role in the organization of ciliary structures in many eukaryotic cells. Literature describes patients with CFAP410 mutations to present with a variety of retinal dysfunction and skeletal dysplasia, including an association with axial spondylometaphyseal dysplasia (SMDAX). However, characterization of the retinal phenotype has been limited. We have collected data from 40 patients with biallelic CFAP410 mutations to further investigate the phenotypic range of this disease.

Methods : The research presented here includes 40 patients in an observational, retrospective, multi-center study. Ophthalmologic and systemic data were collected from these patients, including age of onset for visual symptoms, best corrected visual acuity at first and most recent visit, imaging, and ocular exam. Types of imaging included fundus photography, electroretinogram (ERG), and optical coherence tomography.

Results : Sixty eight percent of patients reported onset of visual symptoms before age 18. Mean visual acuity ± SD at first visit was LogMAR 0.76 ± 0.75 OD with a range of 0.1 to 3, and at most recent visit was 0.90 ± 0.86 OD with a range of 0.18 to 4. Mean visual acuity ± SD at first visit was LogMAR 0.81 ± 0.87 OS with a range of 0.1 to 4, and at most recent visit was 0.65 ± 0.36 OS with a range of 0.1 to 1.6. Seventy eight percent of patients had at least one full-field ERG performed, and the majority were found to have a pattern of a cone- or cone-rod dystrophy. Pigmentary changes were frequently reported in the peripheral retinas of patients, and included hypopigmentation and bone spicules. Only five individuals had documented skeletal abnormalities.

Conclusions : While originally described as a cause of axial spondylometaphyseal dysplasia, our data suggest that skeletal abnormalities in CFAP410 may be a less common phenotype as only 18.5% of patients were noted to have skeletal abnormalities. Retinal pathology was also variable, with three patients having staphylomatous changes and the majority of patients having a pigmentary retinopathy. All patients with full-field ERGs were noted to have detectable ERG changes, suggesting ERG may be the most sensitive means of identifying retinal dysfunction in these patients.

This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.

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