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Genetics and optical coherence tomography features in a child with an achromatic retinal patch
Noy Ashkenazy1, Nicolas A Yannuzzi1, Audina M Berrocal1
1Bascom Palmer Eye Institute, Retina Service, University of Miami Miller School of Medicine, Miami, Florida, USA.
Ophthalmic Genetics
|December 10, 2021
Summary
Achromatic retinal patches, often overlooked, are linked to tuberous sclerosis complex (TSC). Early retinal exams and genetic testing are crucial for diagnosing TSC, especially with uncertain genetic variants.
Area of Science:
- Ophthalmology
- Genetics
- Neurology
Background:
- Tuberous sclerosis complex (TSC) is a genetic disorder with varied manifestations.
- Achromatic retinal patches are an underrecognized sign associated with TSC.
- Diagnostic criteria for TSC can be challenging to meet, necessitating exploration of subtle clinical signs.
Observation:
- A case study reviewed a 5-year-old male with a history of seizures and a TSC2 gene variant.
- The patient presented with a hypopigmented lesion in the nasal macula, identified as an achromatic retinal patch.
- Optical coherence tomography (OCT) provided detailed imaging of the retinal finding.
Findings:
- The presence of an achromatic retinal patch in a patient with a TSC2 variant suggests a potential diagnostic role.
- This finding highlights the importance of ocular examination in TSC evaluation.
- The pathogenic significance of this retinal finding in conjunction with TSC gene mutations of unclear pathogenicity requires further investigation.
Implications:
- Emphasizes the need for comprehensive retinal examinations in patients with suspected or confirmed TSC.
- Suggests that achromatic retinal patches may aid in diagnosing TSC, particularly when clinical criteria are not fully met.
- Underscores the importance of genetic testing and careful evaluation of genetic variants in the context of ocular findings for TSC diagnosis.
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