scholarly journals Brittle cornea syndrome: current perspectives

2019 ◽  
Vol Volume 13 ◽  
pp. 1511-1516
Author(s):  
Andrew Walkden ◽  
Emma Burkitt Wright ◽  
Leon Au
Keyword(s):  
Brittle Cornea Syndrome

scholarly journals Brittle cornea syndrome

2019 ◽  
Vol 31 (3) ◽  
pp. 221
Author(s):  
Rani Menon ◽  
SharikaS Menon
Keyword(s):  
Brittle Cornea Syndrome

scholarly journals Brittle cornea syndrome: current perspectives [Letter]

2019 ◽  
Vol Volume 13 ◽  
pp. 1719-1720
Author(s):  
Arjun Srirampur ◽  
Shalini Kumari Agrawal ◽  
Veerendranath Pesala
Keyword(s):  
Brittle Cornea Syndrome

The Brittle Cornea Syndrome: Study of a family with five affected siblings

2012 ◽  
Vol 90 ◽  
pp. 0-0
Author(s):  
A ALHARBI ◽  
D DENIS ◽  
N AZAR ◽  
IH MAUMENEE
Keyword(s):  
Brittle Cornea Syndrome

Identification of a Novel ZNF469 Mutation in a Pakistani Family With Brittle Cornea Syndrome

Cornea ◽  
2019 ◽  
Vol 38 (6) ◽  
pp. 718-722
Author(s):  
Shazia Micheal ◽  
Sorath Noorani Siddiqui ◽  
Saemah Nuzhat Zafar ◽  
Ilse Therésia Gabriëla Niewold ◽  
Muhammad Imran Khan ◽  
...  
Keyword(s):  
Pakistani Family ◽  
Brittle Cornea Syndrome

scholarly journals Brittle Cornea Syndrome ZNF469 Mutation Carrier Phenotype and Segregation Analysis of Rare ZNF469 Variants in Familial Keratoconus

2015 ◽  
Vol 56 (1) ◽  
pp. 578-586 ◽  
Author(s):  
A. E. Davidson ◽  
E. Borasio ◽  
P. Liskova ◽  
A. O. Khan ◽  
H. Hassan ◽  
...  
Keyword(s):  
Mutation Carrier ◽  
Segregation Analysis ◽  
Brittle Cornea Syndrome

scholarly journals Brittle cornea syndrome: recognition, molecular diagnosis and management

2013 ◽  
Vol 8 (1) ◽  
pp. 68 ◽  
Author(s):  
Emma MM Burkitt Wright ◽  
Louise F Porter ◽  
Helen L Spencer ◽  
Jill Clayton-Smith ◽  
Leon Au ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Diagnosis And Management ◽  
Brittle Cornea Syndrome

Peripartum anesthetic management of a patient with brittle cornea syndrome

2011 ◽  
Vol 283 (S1) ◽  
pp. 49-52
Author(s):  
A. Ioscovich ◽  
S. Grisaru-Granovsky ◽  
S. Halpern ◽  
Y. Shapiro
Keyword(s):  
Anesthetic Management ◽  
Brittle Cornea Syndrome

scholarly journals Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years

2020 ◽  
Vol 164 (2) ◽  
pp. 183-188
Author(s):  
Pavlina Skalicka ◽  
Louise F. Porter ◽  
Kristyna Brejchova ◽  
Frantisek Malinka ◽  
Lubica Dudakova ◽  
...  
Keyword(s):  
Brittle Cornea Syndrome ◽  
Novel Variants

scholarly journals Case Series of Brittle Cornea Syndrome

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Taher Eleiwa ◽  
Mariam Raheem ◽  
Nimesh A. Patel ◽  
Audina M. Berrocal ◽  
Alana Grajewski ◽  
...  
Keyword(s):  
Late Onset ◽  
Treatment Options ◽  
Case Series ◽  
Autosomal Recessive Disorder ◽  
Diagnostic Features ◽  
Brittle Cornea Syndrome ◽  
Patch Graft ◽  
The Right ◽  
Corneal Rupture

Purpose. This case series demonstrate diagnostic features, treatment options, and challenges for Brittle Cornea Syndrome. Observations. Three cases presented with bluish sclera and extremely thin cornea. Genetic workup was performed and confirmed the diagnosis of Brittle Cornea Syndrome, a rare autosomal recessive disorder characterized by corneal thinning and blue sclera. Case 1 was a 4-year-old boy who developed cataract and glaucoma after undergoing right tectonic penetrating keratoplasty (PK) secondary to a spontaneous corneal rupture. Glaucoma was controlled medically. Later, the kid underwent right transcorneal lensectomy and vitrectomy with synechiolysis. After 6 weeks, he sustained graft dehiscence that was repaired using onlay patch graft. Case 2 was a 7-year-old boy who underwent PK in the right eye, then a pericardial patch graft in the left eye following spontaneous corneal rupture. Glaucoma in both eyes was controlled medically. Case 3 was the 2-year-old sister of the 2nd case. She had a pachymetry of 238 μm OD and 254 μm OS. In the 3 cases, parents were instructed to take protective measures for both eyes and to continue with follow-up visits. Also, they were instructed to have regular screenings for late-onset hearing loss, dental abnormalities, and bone deformities. Conclusions. Long-term follow-up of children diagnosed with Brittle Cornea Syndrome is paramount to minimize the morbidity of corneal rupture and late-onset extraocular conditions.

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