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Quoted phrase not found in phrase index: "Corneal dystrophy-perceptive deafness syndrome"
Page 1
Cogan syndrome.
Orsoni JG, Zavota L, Pellistri I, Piazza F, Cimino L. Orsoni JG, et al. Cornea. 2002 May;21(4):356-9. doi: 10.1097/00003226-200205000-00005. Cornea. 2002. PMID: 11973382
METHODS: Seven patients affected by Cogan syndrome were studied: two males and five females, ranging from 27 to 65 years of age (mean age: 41 years). ...Three patients who had an early diagnosis of Cogan syndrome had no worsening of vestibuloauditory dysfunction dur …
METHODS: Seven patients affected by Cogan syndrome were studied: two males and five females, ranging from 27 to 65 years of age (mean …
Ocular phenotype and therapeutic interventions in keratitis-ichthyosis-deafness (KID) syndrome.
Mc Lean K, Bignotti S, Callea M, Cammarata-Scalisi F, Steger B, Armstrong D, Lagan M, Sinton J, Semeraro F, Kaye SB, Romano V, Willoughby CE. Mc Lean K, et al. Ophthalmic Genet. 2024 Feb;45(1):16-22. doi: 10.1080/13816810.2023.2258218. Epub 2024 Jan 26. Ophthalmic Genet. 2024. PMID: 37755702
BACKGROUND: To report ocular manifestations, clinical course, and therapeutic management of patients with molecular genetically confirmed keratitis-ichthyosis-deafness syndrome. ...In contrast, oral therapy with ketoconazole stabilized the corneal and …
BACKGROUND: To report ocular manifestations, clinical course, and therapeutic management of patients with molecular genetically confi …
Retinoschisis associated with Kearns-Sayre syndrome.
Chertkof J, Hufnagel RB, Blain D, Gropman AL, Brooks BP. Chertkof J, et al. Ophthalmic Genet. 2020 Oct;41(5):497-500. doi: 10.1080/13816810.2020.1799416. Epub 2020 Aug 13. Ophthalmic Genet. 2020. PMID: 32787478 Free PMC article.
RESULTS: Over nine years of follow-up, the subject manifested progressive signs and symptoms of KSS, including external ophthalmoplegia/strabismus, ptosis, pigmentary retinopathy, corneal edema, Type I diabetes mellitus, gut dysmotility, sensorineural deafness and h …
RESULTS: Over nine years of follow-up, the subject manifested progressive signs and symptoms of KSS, including external ophthalmoplegia/stra …
Keratoprosthesis in pediatric keratitis-icthyosiform-deafness syndrome.
Brown C, Rowlands M, Lee D, Geffin JA, Huang J. Brown C, et al. J AAPOS. 2016 Feb;20(1):73-5. doi: 10.1016/j.jaapos.2015.09.009. J AAPOS. 2016. PMID: 26917078
We report the first case of Boston Keratoprosthesis (KPro) implantation in a 7-year-old girl with keratitis-ichthyosiform-deafness syndrome and persistent, highly vascular corneal surface disease. ...
We report the first case of Boston Keratoprosthesis (KPro) implantation in a 7-year-old girl with keratitis-ichthyosiform-deafness …
Congenital Glaucoma and CHARGE Syndrome: A Case Report.
Benson MD, Jivraj I, Damji KF, Solarte CE. Benson MD, et al. J Glaucoma. 2017 Feb;26(2):e84-e86. doi: 10.1097/IJG.0000000000000555. J Glaucoma. 2017. PMID: 27661987
PURPOSE: To report a rare case of congenital glaucoma in a patient with CHARGE syndrome, present gonioscopic photographs, and explore mechanisms of disease that may account for this association. PATIENTS AND METHODS: We describe a 35-week-old girl with previously diagnosed …
PURPOSE: To report a rare case of congenital glaucoma in a patient with CHARGE syndrome, present gonioscopic photographs, and explore …
Neurotrophic Keratitis Due to Congenital Corneal Anesthesia with Deafness, Hypotonia, Intellectual Disability, Face Abnormality and Metabolic Disorder: A New Syndrome?
Gelzinis A, Simonaviciute D, Krucaite A, Buzzonetti L, Dollfus H, Zemaitiene R. Gelzinis A, et al. Medicina (Kaunas). 2022 May 13;58(5):657. doi: 10.3390/medicina58050657. Medicina (Kaunas). 2022. PMID: 35630074 Free PMC article.
Neurotrophic keratitis is a rare degenerative disease of the cornea that can lead to corneal ulceration, scarring, and significant visual impairment. ...Brain magnetic resonance imaging confirmed bilateral trigeminal hypoplasia and the diagnosis of neurotrophic kera …
Neurotrophic keratitis is a rare degenerative disease of the cornea that can lead to corneal ulceration, scarring, and signifi …
SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families.
Firasat S, Dur-E-Shawar, Khan WA, Sughra U, Nousheen, Kaul H, Naz S, Noreen B, Gul R, Afshan K. Firasat S, et al. Mol Biol Rep. 2021 Nov;48(11):7467-7476. doi: 10.1007/s11033-021-06765-4. Epub 2021 Oct 12. Mol Biol Rep. 2021. PMID: 34637099 Clinical Trial.
BACKGROUND: Autosomal recessive corneal hereditary endothelial dystrophy (CHED) is a rare congenital disorder of cornea. Mutations in SLC4A11 gene are associated with CHED phenotype. CHED is also an early feature of Harboyan syndrome. The aim of the present s …
BACKGROUND: Autosomal recessive corneal hereditary endothelial dystrophy (CHED) is a rare congenital disorder of cornea. Mutat …
A review of deferasirox, bortezomib, dasatinib, and cyclosporine eye drops: possible uses and known side effects in cutaneous medicine.
Scheinfeld N. Scheinfeld N. J Drugs Dermatol. 2007 Mar;6(3):352-5. J Drugs Dermatol. 2007. PMID: 17373201 Review.
Cyclosporine eye drops might also have utility in treating eye pathology of ocular rosacea, atopic keratoconjunctivitis, graft versus host disease, herpes keratitis, chronic sarcoidosis of the conjunctiva, conjunctival manifestations of actinic prurigo, keratitis of keratitis-ich …
Cyclosporine eye drops might also have utility in treating eye pathology of ocular rosacea, atopic keratoconjunctivitis, graft versus host d …
Cogan's syndrome: clinical evolution of deafness and vertigo in three patients.
Baumann A, Helbling A, Oertle S, Häusler R, Vibert D. Baumann A, et al. Eur Arch Otorhinolaryngol. 2005 Jan;262(1):45-9. doi: 10.1007/s00405-004-0738-8. Epub 2004 Mar 5. Eur Arch Otorhinolaryngol. 2005. PMID: 15004707
The aim of this study was to evaluate the clinical symptoms, the otoneurological examinations, the treatment and the clinical course of three patients suffering from Cogan's syndrome, a rare disease based on the clinical association of a non-syphilitic …
The aim of this study was to evaluate the clinical symptoms, the otoneurological examinations, the treatment and the clinical …
Murine mucopolysaccharidosis type VII: the impact of therapies on the clinical course and pathology in a murine model of lysosomal storage disease.
Vogler C, Sands MS, Galvin N, Levy B, Thorpe C, Barker J, Sly WS. Vogler C, et al. J Inherit Metab Dis. 1998 Aug;21(5):575-86. doi: 10.1023/a:1005423222927. J Inherit Metab Dis. 1998. PMID: 9728337 Review.
Murine mucopolysaccharidosis type VII (MPS VII) is a lysosomal storage disease caused by a recessively inherited deficiency of the lysosomal enzyme beta-glucuronidase. Affected mice have clinical, biochemical and pathological findings similar to those seen in humans with M …
Murine mucopolysaccharidosis type VII (MPS VII) is a lysosomal storage disease caused by a recessively inherited deficiency of the lysosomal …
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