Related Experiment Video
Updated: Jul 5, 2025
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The Rodent Model of Nonarteritic Anterior Ischemic Optic Neuropathy rNAION
Published on: November 20, 2016
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RTN4IP1-associated non-syndromic optic neuropathy and rod-cone dystrophy
Priya R Gupta1, Kaitlin O'Connell1, Jack M Sullivan2,3
1Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, USA.
Ophthalmic Genetics
|January 15, 2024
Summary
Biallelic variants in the RTN4IP1 gene cause early-onset optic neuropathy and later-onset rod-cone dystrophy. This case study confirms this dual phenotype and identifies a novel RTN4IP1 variant.
Area of Science:
- Ophthalmology
- Genetics
- Neuroscience
Background:
- Biallelic variants in the Retinal and Testis Expressed Nuclear Protein 4 (RTN4IP1) gene are known causes of early-onset autosomal recessive optic neuropathy.
- More recently, RTN4IP1 variants have been associated with a later-onset rod-cone dystrophy, sometimes with syndromic features.
Purpose of the Study:
- To evaluate a patient with suspected RTN4IP1-associated ocular disease.
- To characterize the clinical and genetic findings in a case of early-onset optic neuropathy with co-occurring rod-cone dystrophy.
Main Methods:
- Comprehensive ophthalmic examination including visual function tests, retinal imaging, and electroretinography.
- Review of childhood ophthalmic records and genetic testing results.
Main Results:
- A 24-year-old female presented with reduced visual acuity and impaired dark adaptation.
- Ophthalmic findings indicated both optic neuropathy and rod-cone dystrophy.
- Genetic testing revealed biallelic variants in RTN4IP1, including a novel variant.
Conclusions:
- This case supports RTN4IP1 as a cause of both early-onset optic neuropathy and later-onset rod-cone dystrophy.
- A novel RTN4IP1 variant was identified in association with this dual ocular phenotype.
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