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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Point and Frameshift Mutations01:30

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Related Experiment Video

Updated: Sep 22, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Phenotypic variant of CLN3 mutation.

Avinash Honasoge1, Bradley T Smith1

  • 1The Retina Institute, St. Louis, MO, United States.

American Journal of Ophthalmology Case Reports
|May 23, 2022
PubMed
Summary

Bilateral chorioretinal scarring was identified in an asymptomatic patient due to a CLN3 heterozygous deletion. This unique case highlights a novel presentation of CLN3-related retinal findings.

Area of Science:

  • Ophthalmology
  • Genetics
  • Retinal Diseases

Background:

  • Bilateral chorioretinal scarring can have various etiologies.
  • CLN3 gene mutations are typically associated with Batten disease, presenting with neurological and visual decline.
  • Retinal manifestations of CLN3 mutations often include bull's-eye maculopathy and electroretinogram deficits.

Observation:

  • A 63-year-old male presented with asymptomatic bilateral multifocal chorioretinal scarring, initially referred for diabetic retinopathy evaluation.
  • Ophthalmic examination revealed visual acuity of 20/20 in both eyes, with scarring sparing the fovea.
  • Extensive workup, including inflammatory and infectious disease testing, was negative.

Findings:

  • Genetic testing identified a heterozygous deletion of exons 8 and 9 in the CLN3 gene.
Keywords:
Batten diseaseCLN3Inherited retinal dystrophyNeuronal ceroid lipfuscinosis

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  • The patient remained asymptomatic with nonprogressive disease at follow-up.
  • This presentation of chorioretinal scarring is unique among reported cases of CLN3 mutations.

    • Implications:

    • This case expands the phenotypic spectrum of CLN3-related disorders.
    • It suggests that CLN3 heterozygous deletions can manifest solely as retinal scarring in the absence of neurological symptoms.
    • Further research is warranted to understand the genotype-phenotype correlations and long-term prognosis of such presentations.