Use this url to cite publication: https://hdl.handle.net/20.500.12512/114121
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Neurotrophic keratitis due to congenital corneal anesthesia with deafness, hypotonia, intellectual disability, face abnormality and metabolic disorder: a new syndrome? / Arvydas Gelzinis, Dovile Simonaviciute, Agne Krucaite, Luca Buzzonetti, Hélène Dollfus, Reda Zemaitiene
Type of publication
Straipsnis Web of Science duomenų bazėje / Article in Web of Science database (S1a)
Author(s)
Buzzonetti, Luca | Bambino Gesù Children’s Hospital, IRCCS, Italy |
Dollfus, Hélène | Centre de Référence Pour les Affections Rares en Génétique Ophtalmologiques, Hôpitaux Universitaires de Strasbourg, France |
Title
Neurotrophic keratitis due to congenital corneal anesthesia with deafness, hypotonia, intellectual disability, face abnormality and metabolic disorder: a new syndrome? / Arvydas Gelzinis, Dovile Simonaviciute, Agne Krucaite, Luca Buzzonetti, Hélène Dollfus, Reda Zemaitiene
Publisher (trusted)
LSMU ; MDPI
Date Issued
2022-05-13
Extent
p. 1-7.
Is part of
Medicina. Kaunas ; Basel : LSMU ; MDPI, 2022, vol. 58, no. 5.
Version
Originalus / Original
Description
Article No. 657
OA, CC BY
Field of Science
Abstract
Neurotrophic keratitis is a rare degenerative disease of the cornea that can lead to corneal ulceration, scarring, and significant visual impairment. It most commonly occurs in adults and is rarely diagnosed in children. Congenital corneal anesthesia is an extremely rare condition that requires appropriate ophthalmologists’ attention in making diagnosis and treatment decisions. This condition usually presents in infancy or early childhood and is characterized by rare blinking rate, decreased tearing or a corneal ulcer that is unresponsive to treatment. In this case report, we describe a patient with multiple systemic and neurological disorders who presented to the ophthalmology department due to corneal erosion unresponsive to treatment. Brain magnetic resonance imaging confirmed bilateral trigeminal hypoplasia and the diagnosis of neurotrophic keratopathy due to bilateral congenital corneal anesthesia was made. The discrepancy between clinical signs and symptoms or treatment non-response in cases of corneal erosions should alert the ophthalmologists to suspect trigeminal dysfunction. MRI is the gold standard to confirm congenital corneal anesthesia and to differentiate from other possible neurotrophic keratitis causes.
Is Referenced by
Type of document
type::text::journal::journal article
ISSN (of the container)
1010-660X
1648-9144
WOS
000803237400001
Other Identifier(s)
(LSMU ALMA)991605699007106
Coverage Spatial
Šveicarija / Switzerland (CH)
Language
Anglų / English (en)
Bibliographic Details
24
Access Rights
Prieiga intranete / Intranet Access
File(s) medicina-58-00657.pdf (8.35 MB) Intranet Access
Journal | IF | AIF | AIF (min) | AIF (max) | Cat | AV | Year | Quartile |
---|---|---|---|---|---|---|---|---|
Medicina-Lithuania | 2.6 | 6.8 | 6.8 | 6.8 | 1 | 0.382 | 2022 | Q3 |
Journal | IF | AIF | AIF (min) | AIF (max) | Cat | AV | Year | Quartile |
---|---|---|---|---|---|---|---|---|
Medicina-Lithuania | 2.6 | 6.8 | 6.8 | 6.8 | 1 | 0.382 | 2022 | Q3 |
Journal | Cite Score | SNIP | SJR | Year | Quartile |
---|---|---|---|---|---|
Medicina (Lithuania) | 3.6 | 0.995 | 0.59 | 2022 | Q2 |