Abstract
The authors report a case of a 6-week-old girl with microphthalmia, posterior lenticonus, persistent fetal vasculature, and coloboma of the right eye, with morning glory disc anomaly and falciform retinal folds of the left eye. Genetic testing revealed a previously unreported mutation (c.1471A>G [p.T491A]) in the gene ZNF408, which has been associated with autosomal recessive retinitis pigmentosa and autosomal dominant familial exudative vitreoretinopathy. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:253-256.].
Copyright 2019, SLACK Incorporated.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Abnormalities, Multiple*
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Coloboma / diagnosis*
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Coloboma / genetics
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Cornea / abnormalities
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Cornea / diagnostic imaging
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Corneal Diseases / congenital
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Corneal Diseases / diagnosis*
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Corneal Diseases / genetics
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DNA Mutational Analysis
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DNA-Binding Proteins / genetics*
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DNA-Binding Proteins / metabolism
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Eye Abnormalities
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Female
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Fluorescein Angiography
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Fundus Oculi
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Humans
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Infant
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Magnetic Resonance Imaging
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Mutation*
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Optic Nerve / abnormalities*
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Persistent Fetal Circulation Syndrome / diagnosis*
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Persistent Fetal Circulation Syndrome / genetics
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Transcription Factors / genetics*
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Transcription Factors / metabolism
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Zinc Fingers
Substances
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DNA-Binding Proteins
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Transcription Factors
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ZNF408 protein, human