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Quoted phrase not found in phrase index: "Corneal dystrophy-perceptive deafness syndrome"
Page 1
Brittle cornea syndrome: recognition, molecular diagnosis and management.
Burkitt Wright EM, Porter LF, Spencer HL, Clayton-Smith J, Au L, Munier FL, Smithson S, Suri M, Rohrbach M, Manson FD, Black GC. Burkitt Wright EM, et al. Orphanet J Rare Dis. 2013 May 4;8:68. doi: 10.1186/1750-1172-8-68. Orphanet J Rare Dis. 2013. PMID: 23642083 Free PMC article. Review.
Brittle cornea syndrome (BCS) is an autosomal recessive disorder characterised by extreme corneal thinning and fragility. Corneal rupture can therefore occur either spontaneously or following minimal trauma in affected patients. ...
Brittle cornea syndrome (BCS) is an autosomal recessive disorder characterised by extreme corneal thinning and fragilit …
Corneal Abnormalities Are Novel Clinical Feature in Wolfram Syndrome.
Waszczykowska A, Zmysłowska A, Braun M, Zielonka E, Ivask M, Koks S, Jurowski P, Młynarski W. Waszczykowska A, et al. Am J Ophthalmol. 2020 Sep;217:140-151. doi: 10.1016/j.ajo.2020.04.012. Epub 2020 Apr 23. Am J Ophthalmol. 2020. PMID: 32335055
PURPOSE: To evaluate corneal morphology among patients with Wolfram syndrome (WFS). DESIGN: Comparative observational longitudinal case series of WFS patients with a laboratory approach in the WFS1 gene knockout (Wfs1KO) mouse model. ...Corneal characteristic …
PURPOSE: To evaluate corneal morphology among patients with Wolfram syndrome (WFS). DESIGN: Comparative observational longitud …
Newborn Glaucoma: A Neglected Manifestation of Congenital Rubella Syndrome.
Kaushik S, Choudhary S, Dhingra D, Singh MP, Gupta G, Arora A, Thattaruthody F, Pandav SS. Kaushik S, et al. Ophthalmol Glaucoma. 2022 Jul-Aug;5(4):428-435. doi: 10.1016/j.ogla.2021.12.005. Epub 2021 Dec 24. Ophthalmol Glaucoma. 2022. PMID: 34954410

Rubella-positive infants had significantly more opaque corneas (P < 0.001), shorter eyes (P < 0.001), and smaller corneal diameters (P = 0.007) at presentation. Two patients in the rubella group had bilateral cataracts, 3 patients had heart disease, and 1 patient had

…

Rubella-positive infants had significantly more opaque corneas (P < 0.001), shorter eyes (P < 0.001), and smaller corneal diame

…
Reduced Corneal Sensitivity With Neuronal Degeneration is a Novel Clinical Feature in Wolfram Syndrome.
Waszczykowska A, Zmysłowska A, Bartosiewicz K, Studzian M, Pułaski Ł, Braun M, Ivask M, Koks S, Jurowski P, Młynarski W. Waszczykowska A, et al. Am J Ophthalmol. 2022 Apr;236:63-68. doi: 10.1016/j.ajo.2021.09.030. Epub 2021 Oct 26. Am J Ophthalmol. 2022. PMID: 34710353
PURPOSE: To evaluate corneal sensitivity and corneal nerve morphology among patients with Wolfram syndrome (WFS). ...CONCLUSIONS: Decreased corneal sensitivity and corneal nerve degeneration are observed in WFS. ...
PURPOSE: To evaluate corneal sensitivity and corneal nerve morphology among patients with Wolfram syndrome (WFS). ...CO …
Do you know this syndrome?
Enei ML, Cassettari A, Córdova S, Torres O, Paschoal F. Enei ML, et al. An Bras Dermatol. 2011 Jul-Aug;86(4):819-21. doi: 10.1590/s0365-05962011000400037. An Bras Dermatol. 2011. PMID: 21987161 Free article. English, Portuguese.
Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal dysplasia affecting skin, the corneal epithelium and inner ear. ...In view of symptoms of deafness, blindness, skin infections and the risk of malignant degeneration, early di …
Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal dysplasia affecting skin, the corneal epit …
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 interstitial keratit …
The aim of this study was to evaluate the clinical symptoms, the otoneurological examinations, the treatment and the clinical course of thre …
Ocular features of CHARGE syndrome.
McMain K, Blake K, Smith I, Johnson J, Wood E, Tremblay F, Robitaille J. McMain K, et al. J AAPOS. 2008 Oct;12(5):460-5. doi: 10.1016/j.jaapos.2008.02.009. Epub 2008 May 2. J AAPOS. 2008. PMID: 18455933
PURPOSE: To detail the presence and severity of ocular and cranial nerve abnormalities found in individuals with CHARGE syndrome in a distinct geographic area. METHODS: Nine individuals with CHARGE syndrome from Maritime Canada identified from a Canadian database we …
PURPOSE: To detail the presence and severity of ocular and cranial nerve abnormalities found in individuals with CHARGE syndrome in a …
Clear lens phacoemulsification in Alport syndrome: refractive results and electron microscopic analysis of the anterior lens capsule.
Bayar SA, Pinarci EY, Karabay G, Akman A, Oto S, Yilmaz G. Bayar SA, et al. Eur J Ophthalmol. 2014 May-Jun;24(3):345-51. doi: 10.5301/ejo.5000365. Epub 2013 Oct 16. Eur J Ophthalmol. 2014. PMID: 24170525
PURPOSE: To report the ocular findings of patients with Alport syndrome and the results of clear lens extraction in this patient group. METHODS: Twenty-three eyes of 15 patients with a diagnosis of Alport syndrome were included in this study. Clear corneal ph …
PURPOSE: To report the ocular findings of patients with Alport syndrome and the results of clear lens extraction in this patient grou …
Novel compound heterozygous nonsense variants, p.L150* and p.Y3565*, of the USH2A gene in a Chinese pedigree are associated with Usher syndrome type IIA.
Fu J, Cheng J, Zhou Q, Khan MA, Duan C, Peng J, Lv H, Fu J. Fu J, et al. Mol Med Rep. 2020 Oct;22(4):3464-3472. doi: 10.3892/mmr.2020.11400. Epub 2020 Aug 3. Mol Med Rep. 2020. PMID: 32945453 Free PMC article.
The association between Usher syndrome-causative genes and resultant Usher syndrome phenotypes in patients are highly variable. ...The present discovery may assist in understanding the molecular pathogenesis underlying the development of RP and Usher syndrome …
The association between Usher syndrome-causative genes and resultant Usher syndrome phenotypes in patients are highly variable …
Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome.
Messmer EM, Kenyon KR, Rittinger O, Janecke AR, Kampik A. Messmer EM, et al. Ophthalmology. 2005 Feb;112(2):e1-6. doi: 10.1016/j.ophtha.2004.07.034. Ophthalmology. 2005. PMID: 15691545
OBJECTIVE: Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal dysplasia characterized by the association of hyperkeratotic skin lesions, moderate to profound sensorineural hearing loss and vascularizing keratitis. ...Lid abnormalities, c …
OBJECTIVE: Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal dysplasia characterized by the associa …
21 results