Spontaneous Reattachment of a Total Retinal Detachment in an Infant with Microphthalmos and an Optic Nerve Coloboma

1991 ◽  
Vol 112 (3) ◽  
pp. 347-348 ◽  
Author(s):  
T.W. Bochow ◽  
R.J. Olk ◽  
J.A. Knupp ◽  
M.E. Smith
Retina ◽  
2018 ◽  
Vol 38 (4) ◽  
pp. 692-697 ◽  
Author(s):  
Yufeng N. Chen ◽  
C.K. Patel ◽  
Peter J. Kertes ◽  
Robert G. Devenyi ◽  
Susan Blaser ◽  
...  

2004 ◽  
Vol 41 (6) ◽  
pp. 358-360 ◽  
Author(s):  
Michelle S Ying ◽  
Jeff Fuller ◽  
Joshua Young ◽  
Dennis M Marcus

2003 ◽  
Vol 45 (2) ◽  
pp. 71-76 ◽  
Author(s):  
Mutlu Sağlam ◽  
Üzeyir Erdem ◽  
Murat Kocaoğlu ◽  
Cem Tayfun ◽  
Taner Üçöz ◽  
...  

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii447-iii447
Author(s):  
Naomi Evans ◽  
Katherine Paton ◽  
Harinder Kaur Gill ◽  
Juliette Hukin

Abstract INTRODUCTION Everolimus is an inhibitor of mTORC1 (mammalian target of rapamycin complex 1), it is Health Canada and FDA approved for SEGA and renal angiomyolipoma in the setting of tuberous sclerosis complex (TSC). There is little data available in regards to this treatment of TSC associated retinal astrocytoma (RA). Although the behaviour of RA is often indolent or slowly progressive, aggressive behaviour with retinal detachment and neovascular glaucoma requiring enucleation has been reported in several patients. Definite TSC diagnosis is established when either two major features or one major and two minor features are present. Probable TSC diagnosis is established when one major plus one minor feature is present. METHODS We report a child with probable TSC mosaicism, with negative serum NGS for TSC but RA and retinal achromic patch on the left. A left retinal peripapillary astrocytoma around optic nerve and very close to fovea was noted. There was concern that if it grew or there were to be any leakage it would cause visual impairment. This lead to therapy with everolimus 4.5 mg/m2/d aiming for level between 5 and 10 mcg/L. RESULTS This boy has had a gradual reduction of the RA over the last 29 months, with healthy retina in the region no longer occupied by the lesion and preserved vision. He has tolerated therapy well with occasional mouth ulcers. CONCLUSION mTORC1 inhibition is effective therapy to preserve vision in the setting of retinal astrocytoma and tuberous sclerosis mosaicism.


Author(s):  
A.O. Nazarenko ◽  
◽  
E.E. Sidorenko ◽  
D.V. Miguel ◽  
A.S. Smartsev ◽  
...  

A clinical case of observation of a 3-year-old child with a newly diagnosed optic nerve coloboma and multiple malformations is considered. The clinical picture and diagnostic methods necessary for the diagnosis are reflected. On the example of this child, the differential diagnosis with Charge syndrome is considered. Key words: coloboma, optic nerve coloboma, partial optic nerve atrophy, astigmatism, Charge syndrome.


1991 ◽  
Vol 28 (5) ◽  
pp. 274-277
Author(s):  
Robert E Wiggins ◽  
Gunter K von Noorden ◽  
Milton Boniuk

1993 ◽  
Vol 17 (2) ◽  
pp. 105-107 ◽  
Author(s):  
Kwang J. Lee ◽  
Gholam A. Peyman

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