Optical Coherence Tomography in Knobloch Syndrome.
Adolescent
Adult
Child
Child, Preschool
Choroid
/ pathology
Encephalocele
/ complications
Epiretinal Membrane
/ diagnosis
Female
Humans
Infant
Male
Retinal Degeneration
/ complications
Retinal Detachment
/ complications
Retinal Pigment Epithelium
/ pathology
Retinoschisis
/ diagnostic imaging
Tomography, Optical Coherence
Young Adult
Journal
Ophthalmic surgery, lasers & imaging retina
ISSN: 2325-8179
Titre abrégé: Ophthalmic Surg Lasers Imaging Retina
Pays: United States
ID NLM: 101599215
Informations de publication
Date de publication:
01 08 2019
01 08 2019
Historique:
received:
19
08
2018
accepted:
17
01
2019
entrez:
16
8
2019
pubmed:
16
8
2019
medline:
2
1
2020
Statut:
ppublish
Résumé
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). 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. 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. 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.].
Sections du résumé
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.].
Identifiants
pubmed: 31415705
doi: 10.3928/23258160-20190806-13
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e203-e210Informations de copyright
Copyright 2019, SLACK Incorporated.