Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2019 Jun;23(3):163-165.e1.
doi: 10.1016/j.jaapos.2019.01.008. Epub 2019 Feb 12.

Considerations in multi-gene panel testing in pediatric ophthalmology

Amy E Turriff  1 , Catherine A Cukras  1 , Brian P Brooks  1 , Laryssa A Huryn  2
Affiliations
Case Reports

Considerations in multi-gene panel testing in pediatric ophthalmology

Amy E Turriff et al. J AAPOS. 2019 Jun.

Abstract

Multi-gene panel testing is used increasingly in ophthalmology practice as an efficient and cost-effective method for diagnosing inherited eye conditions. Panel testing is a powerful diagnostic tool, and it has the potential to reveal syndromic information in patients with seemingly isolated eye findings. This case series highlights our experience with 4 children in 3 families who were referred for evaluation of an isolated retinal degeneration and diagnosed with neuronal ceroid lipofuscinosis on panel testing. These cases are important reminders that several neurodegenerative conditions can present initially with isolated eye findings in childhood and pretest genetic counseling is critical.

PubMed Disclaimer

Figures

FIG 1.
FIG 1.
10-year-old boy with PPT1-related neuronal ceroid lipofuscinoses. Fundus photographs demonstrating retinal vascular attenuation and retinal pigment epithelium granularity (A), with corresponding areas of hypoautofluorescence (B). Optical coherence tomography showing cysts in the central macula and ellipsoid zone loss (C). Although the family reported no neurologic symptoms or regression, he was found to have encoding and short-term memory difficulties, visuomotor integration issues on neurocognitive testing, and cortical atrophy on magnetic resonance imaging (D). Diagnosis was confirmed with electron microscopy, showing accumulation of dense material, and skin biopsy, which revealed granular osmophilic deposits in the cytoplasm of a lymphocyte (E).
See this image and copyright information in PMC

Comment in

  • Considerations in multi-gene panel testing in pediatric ophthalmology.
    Khan AO. Khan AO. J AAPOS. 2020 Feb;24(1):57-58. doi: 10.1016/j.jaapos.2019.07.003. Epub 2019 Sep 14. J AAPOS. 2020. PMID: 31526856 No abstract available.
  • Reply.
    Turriff AE, Cukras CA, Brooks BP, Huryn LA. Turriff AE, et al. J AAPOS. 2020 Feb;24(1):58-59. doi: 10.1016/j.jaapos.2019.10.009. Epub 2020 Jan 11. J AAPOS. 2020. PMID: 31935451 Free PMC article. No abstract available.

References

    1. Nita DA, Mole SE, Minassian BA. Neuronal ceroid lipofuscinoses. Epileptic Disord 2016;18:73–88. - PubMed
    1. Collins J, Holder GE, Herbert H, Adams GG. Batten disease: features to facilitate early diagnosis. Br J Ophthalmol 2006;90:1119–24. - PMC - PubMed
    1. Mole SE, Williams RE, Goebel HH. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics 2005;6:107–26. - PubMed
    1. Ozono T, Kinoshita M, Narita A, et al.Juvenile-onset neuronal ceroid lipofuscinosis (CLN1) disease with a novel deletion and duplication in the PPT1 gene. J Neurol Sci 2018;388:4–6. - PubMed
    1. Ku CA, Hull S, Arno G, et al.Detailed clinical phenotype and molecular genetic findings in CLN3-associated isolated retinal degeneration. JAMA Ophthalmol 2017;135:749–60. - PMC - PubMed

Publication types

MeSH terms