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Characterizing a Unique Retinal Phenotype in INTS11-Associated Neurodevelopmental Disorder.

Siying Lin1,2,3,4, Wendy D Tan5, Anthony G Robson3,4

  • 1Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.

Investigative Ophthalmology & Visual Science
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Summary
This summary is machine-generated.

This study details a unique retinal phenotype in INTS11-related neurodevelopmental disorder, characterized by inner retinal thinning. Findings expand the known genetic and clinical spectrum of this condition.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Neuroscience

Background:

  • INTS11-related neurodevelopmental disorder is a newly described condition.
  • Previous reports noted retinal dystrophy in some patients, but detailed ocular findings were lacking.

Purpose of the Study:

  • To characterize the specific retinal phenotype in INTS11-related neurodevelopmental disorder.
  • To expand the known genotypic and phenotypic spectrum of INTS11 mutations.

Main Methods:

  • Comprehensive ophthalmic and systemic assessments were performed on four affected individuals.
  • Multimodal retinal imaging (fundus, autofluorescence, OCT) and electroretinography were utilized.
  • Genome/exome sequencing identified novel and previously reported biallelic INTS11 variants.

Main Results:

  • All individuals presented with a consistent neurodevelopmental and retinal phenotype.
  • Optical coherence tomography revealed severe inner retinal layer thinning with preserved outer layers.
  • Electroretinography showed generalized rod and cone dysfunction localized to the inner retina.

Conclusions:

  • Retinopathy is a key feature of INTS11-associated neurodevelopmental disorders.
  • This condition causes a distinctive inner retinal thinning, unlike most monogenic retinopathies.
  • Comprehensive eye exams are crucial for diagnosing INTS11-related disorders, expanding the known disease spectrum.