scholarly journals A case of PAX6 gene mutation with bilateral Peters anomaly

Author(s):  
Wei He ◽  
Lu Chang ◽  
Dong Huang ◽  
Qin Jiang
1996 ◽  
Vol 7 (4) ◽  
pp. 377-377 ◽  
Author(s):  
Iman Sahly ◽  
Marc Abitbol ◽  
Claudine Laurent ◽  
Imad Ghazi ◽  
Florence Ribeaudeau ◽  
...  
Keyword(s):  

Author(s):  
Rashmi Deshmukh ◽  
◽  
Madhavan Rajan ◽  

Congenital aniridia is caused by a mutation in the PAX6 gene [1] and is characterized by partial or complete absence of iris tissue. Apart from the hypoplasia of iris tissue, other ocular features such as foveal hypoplasia, nystagmus, aniridia-related keratopathy, Peters anomaly, Axenfeld-Rieger anomaly and glaucoma are seen in these eyes [1,2]. Cases have been reported with persistent pupillary membranes [3] and iris strands [4].


2021 ◽  
pp. 457-463
Author(s):  
Tyler Etheridge ◽  
Zackery Oakey ◽  
Michael M. Altaweel

We report a case of morning glory disc anomaly in a young patient with tractional retinal detachment successfully repaired with complex pars plana vitrectomy, membrane peel, laser, and oil tamponade. A 19-year-old female with a history of right morning glory disc anomaly associated with PAX6 gene mutation presented with floaters, photopsia, central scotoma, and visual acuity (VA) of 1/200. A complex macula-involving tractional retinal detachment centered around the optic nerve with a morning glory disc anomaly. Retinal detachment was treated with 25-gauge pars plana vitrectomy with difficult separation of the posterior hyaloid. Fibrous preretinal membranes were peeled, a temporal relaxing retinotomy was required, subretinal fluid was drained through a superonasal retinotomy during air-fluid exchange, endolaser was applied, and tamponade was achieved with 1,000-centistoke silicone oil. The retina remained attached at 1-year follow-up, with VA count fingers throughout. Morning glory disc is a rare congenital anomaly associated with PAX6 gene mutation that most often occurs unilaterally. It is rarely associated with tractional retinal detachment. Optimization of visual outcome is imperative despite a poor visual prognosis.


2014 ◽  
Vol 13 (2) ◽  
pp. 3553-3559 ◽  
Author(s):  
P.C. Lee ◽  
H.H. Lam ◽  
S.A. Ghani ◽  
V. Subrayan ◽  
K.H. Chua

Eye ◽  
2009 ◽  
Vol 24 (2) ◽  
pp. 391-393 ◽  
Author(s):  
A Arikawa ◽  
S Yoshida ◽  
H Yoshikawa ◽  
K Ishikawa ◽  
Y Yamaji ◽  
...  

2000 ◽  
Vol 238 (7) ◽  
pp. 552-558 ◽  
Author(s):  
S. Sonoda ◽  
Yasushi Isashiki ◽  
Yoshiaki Tabata ◽  
Katsuaki Kimura ◽  
Tomoko Kakiuchi ◽  
...  

2015 ◽  
Vol 21 ◽  
pp. 124-125
Author(s):  
Grace Kim ◽  
Michael Marchese ◽  
Hassan Shawa ◽  
Matthew Leinung ◽  
Sara Clark

2006 ◽  
Vol 52 (1) ◽  
pp. 15-19 ◽  
Author(s):  
T. Ishikawa ◽  
M. Fujisawa ◽  
J. Tapanainen

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