Optical Coherence Tomography in Knobloch Syndrome.

Abstract

BACKGROUND AND OBJECTIVE:

Knobloch syndrome is a genetic disorder defined by occipital defect, high myopia, and vitreoretinal degeneration. The authors studied retinal changes in patients with Knobloch syndrome using optical coherence tomography (OCT).

PATIENTS AND METHODS:

The authors report patients with Knobloch syndrome who received OCT testing during their care from 2011 to 2016. Diagnosis was based on high myopia, characteristic fundus, and occipital scalp or skull abnormalities with/without featureless irides and/or ectopia lentis. When available, diagnosis was confirmed by the detection of COL18A1 mutations.

RESULTS:

The authors studied eight eyes from five patients. Two eyes were excluded due to chronic retinal detachment. OCT findings included epiretinal membrane, peripapillary vitreoretinal traction with retinoschisis, absent or rudimentary foveal pits, mean macular thickness of 113.4 μm, poor lamination, retinal pigment epithelium (RPE) atrophy, photoreceptor depletion, and mean choroidal thickness of 168.5 μm with enlarged choroidal vessels.

CONCLUSION:

OCT findings in Knobloch syndrome include abnormal vitreoretinal traction, poor foveal differentiation, poor retinal lamination, retinal thinning, RPE attenuation, myopic choroidal thinning, and pachychoroid. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:e203-e210.].

• Authors: Avrey Thau, Mai Tsukikawa, Nutsuchar Wangtiraumnuay, Jenina Capasso, Elizabeth Affel, Waleed Abed Alnabi, Murtaza Adam, Sulaiman M Alsulaiman, Marc Spirn, Alex V Levin
• Journal: Ophthalmic surgery, lasers & imaging retina (Ophthalmic Surg Lasers Imaging Retina) Vol. 50 Issue 8 Pg. e203-e210 (08 01 2019) ISSN: 2325-8179 [Electronic] United States
• PMID: 31415705 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2019, SLACK Incorporated.

Topics

• Adolescent
• Adult
• Child
• Child, Preschool
• Choroid (pathology)
• Encephalocele (complications)
• Epiretinal Membrane (diagnosis)
• Female
• Humans
• Infant
• Male
• Retinal Degeneration (complications)
• Retinal Detachment (complications, congenital, diagnosis)
• Retinal Pigment Epithelium (pathology)
• Retinoschisis (diagnostic imaging)
• Tomography, Optical Coherence
• Young Adult