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Updated: Jan 20, 2026
11:21
Integrated Photoacoustic Ophthalmoscopy and Spectral-domain Optical Coherence Tomography
Published on: January 15, 2013
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Optical Coherence Tomography in Knobloch Syndrome.
Ophthalmic Surgery, Lasers & Imaging Retina
|August 16, 2019
Summary
Optical coherence tomography (OCT) reveals significant retinal changes in Knobloch syndrome patients, including vitreoretinal abnormalities and poor foveal development, aiding diagnosis and understanding of this genetic disorder.
Area of Science:
- Ophthalmology
- Medical Genetics
- Retinal Imaging
Background:
- Knobloch syndrome is a rare genetic disorder characterized by occipital defects, high myopia, and vitreoretinal degeneration.
- Understanding the specific retinal manifestations is crucial for patient management.
Purpose of the Study:
- To investigate and characterize the retinal changes in patients with Knobloch syndrome using optical coherence tomography (OCT).
Main Methods:
- Retrospective analysis of OCT scans from five patients (eight eyes) diagnosed with Knobloch syndrome between 2011 and 2016.
- Diagnosis was confirmed by clinical findings (high myopia, fundus abnormalities, occipital defects) and genetic testing for COL18A1 mutations when available.
Main Results:
- OCT revealed epiretinal membranes, peripapillary vitreoretinal traction with retinoschisis, absent/rudimentary foveal pits, and poor retinal lamination.
- Mean macular thickness was 113.4 μm, with RPE atrophy and photoreceptor depletion observed.
- Mean choroidal thickness was 168.5 μm, featuring enlarged choroidal vessels, RPE attenuation, myopic choroidal thinning, and pachychoroid.
Conclusions:
- OCT is valuable for identifying characteristic retinal abnormalities in Knobloch syndrome, including vitreoretinal traction and poor foveal development.
- Findings suggest a spectrum of changes from retinal thinning to pachychoroid, aiding in the diagnosis and understanding of Knobloch syndrome's ocular pathology.
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