Recurrence and Visual Outcomes of Phototherapeutic Keratectomy in Lattice Corneal Dystrophy: A Cohort Study

2022 ◽  
Vol 38 (1) ◽  
pp. 43-49
Author(s):  
Paola Sauvageot ◽  
Gemma Julio ◽  
Jennifer V. Bolaños ◽  
Marta Carrera ◽  
Juan Álvarez de Toledo ◽  
...  
2021 ◽  
pp. 112067212199730
Author(s):  
Aino Maaria Jaakkola ◽  
Petri J Järventausta ◽  
Reetta-Stiina Järvinen ◽  
Pauliina Repo ◽  
Tero T Kivelä ◽  
...  

Introduction: We describe the phenotype of a variant lattice corneal dystrophy (LCD) potentially caused by a novel variant c.1772C>T p.(Ser591Phe) in exon 13 of the transforming growth factor beta-induced (TGFBI) gene. Case report: The proband, a 71-year-old woman referred because of bilateral LCD, first seen at the age of 65 years, with recent progressive symptoms, underwent a clinical ophthalmological examination, anterior segment optical coherence tomography and confocal microscopy. Additionally, three siblings and three children were examined. The identified TGFBI variant was screened in six family members using Sanger sequencing. A corneal dystrophy gene screen was performed for the proband. Translucent subepithelial irregularities and central to midperipheral stubby branching corneal stromal lattice lines, asymmetric between the right and the left eye, were visible and resulted in mild deterioration of vision in one eye. Genetic testing revealed a novel variant c.1772C>T in TGFBI, leading to the amino acid change p.(Ser591Phe). One daughter carried the same variant but had only thick stromal nerve fibres at the age of 49 years. The other family members neither had corneal abnormalities nor carried the variant. No keratoplasty is yet planned for the proband. Conclusions: We classify the novel variant in TGFBI as possibly pathogenic, potentially causing the late-onset, asymmetric variant LCD. Our findings add to the growing number of TGFBI variants associated with a spectrum of phenotypes of variant LCD.


1999 ◽  
Vol 127 (4) ◽  
pp. 456-458 ◽  
Author(s):  
Satoshi Kawasaki ◽  
Kohji Nishida ◽  
Andrew J Quantock ◽  
Atsuyoshi Dota ◽  
Kelly Bennett ◽  
...  

Cornea ◽  
2006 ◽  
Vol 25 ◽  
pp. S41-S46 ◽  
Author(s):  
Yu-Feng Yao ◽  
Yu-Qi Jin ◽  
Bei Zhang ◽  
Ping Zhou ◽  
Yong-Ming Zhang ◽  
...  

1997 ◽  
Vol 13 (3) ◽  
pp. 308-310
Author(s):  
Mohammed Alaa ◽  
George O Waring ◽  
Amin Malaty ◽  
Hans Grossniklaus

2005 ◽  
Vol 15 (6) ◽  
pp. 804-808 ◽  
Author(s):  
E. Capoluongo ◽  
G. De benedetti ◽  
P. Concolino ◽  
M. Sepe ◽  
R. Ambu ◽  
...  

1998 ◽  
Vol 62 (3) ◽  
pp. 719-722 ◽  
Author(s):  
Shuji Yamamoto ◽  
Masaki Okada ◽  
Motokazu Tsujikawa ◽  
Yoshikazu Shimomura ◽  
Kohji Nishida ◽  
...  

2020 ◽  
Vol 17 (1) ◽  
pp. 35-40
Author(s):  
Nicole Shao-Yuen Lim ◽  
John Males

Aim: To determine whether there is an association between Fuchs endothelial corneal dystrophy (FECD) and shorter axial length (AL), shallower anterior chamber depth (ACD) and higher spherical equivalent (SE). In addition, to evaluate whether there is a correlation between AL and severity of corneal decompensation in FECD, using corneal thickness as a proxy. Design: Retrospective cohort study. Methods: This was a single-centre study conducted in a cornea clinic in Sydney, Australia. Detailed clinical measurements of 91 eyes of 50 FECD patients were compared with 110 eyes of 55 controls. Main outcome measures included AL, ACD and SE. Other outcome measures included central corneal thickness, visual acuity, intraocular pressure and keratometry. Results: Mean AL of FECD patients was 23.6 mm (standard deviation [SD] ±0.9 mm), compared with 24.7 mm (SD ±1.8 mm) for controls (1.1 mm difference [95% confidence interval [CI] 0.5-1.6], p < 0.001, independent sample t-test); corresponding means for ACD were 3.0 and 3.3 mm (0.32 mm difference [95%CI 0.2-0.5], p < 0.001, independent t-test). Eleven out of the 22 FECD patients with available refraction data had hypermetropic refraction compared with 16 out of 36 controls (p = 0.68, chi-squared test). The mean SE of FECD patients (+0.10D) was higher than controls (−1.33D) (1.4D difference [0.1-2.8], p = 0.04, independent t-test). No statistically significant correlation was found between AL and corneal thickness (p = 0.28, linear regression). Conclusion: In this retrospective cohort study, a strong association was established between FECD and small eyes, with shorter AL and shallower ACD, compared with controls. These results have important implications for surgical planning, as shorter AL and ACD in FECD patients likely contribute to their high risk of corneal decompensation following cataract surgery.


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