Results 51 to 60 of about 446,615 (131)

Mouse mutants as models for congenital retinal disorders.

, 2005
Animal models provide a valuable tool for investigating the genetic basis and the pathophysiology of human diseases, and to evaluate therapeutic treatments.
Dalke, C., Graw, J.
core   +1 more source

Congenital Retinal Cerebellar Degeneration

, 1965
Congenital retinal blindness due to cerebellar degeneration syndrome. Optic disc pallor with arteriolar attenuation. Pair with R2_B1_1b. Anatomy: Retina. Pathology: Optic atrophy. Disease/ Diagnosis: Congenital retinal cerebellar degeneration.
William F. Hoyt, MD
core  

Optical coherence tomography and fundus autofluorescence findings in presumed congenital simple retinal pigment epithelium hamartoma

, 2017
Aim: Presumed congenital simple retinal pigment epithelium hamartoma is a rare benign lesion of the macula that mimics congenital hypertrophy of the retinal pigment epithelium (RPE) and combined hamartoma of the retina and the RPE; newer imaging ...
Baskaran, P, Shah, P, Shukla, D
core   +1 more source

[Congenital retinal macrovessel: case report].

Arquivos brasileiros de oftalmologia, 2008
The authors report a case of arteriolar retinal macrovessel, diagnosed by routine ophthalmologic examination, as well as its optic coherence tomography aspects. Congenital retinal macrovessel is a large aberrant vessel, often unilateral, usually a vein, rarely an artery, located in the posterior pole which can cross the fovea and median raphe.
Billy de Moura Palha e, Silva, Alexandre Antonio Marques, Rosa, Etiene Mendes França dos, Santos, Edmundo Frota de, Almeida Sobrinho   +3 more
openaire   +1 more source

Mutations in ATOH7 gene in patients with nonsyndromic congenital retinal nonattachment and familial exudative vitreoretinopathy

, 2016
Mutations in ATOH7 gene in patients with nonsyndromic congenital retinal nonattachment and familial exudative ...
Eiichi Uchio (2543551), Hiroyuki Kondo (2543557), Shunji Kusaka (2543554), Tomoko Tahira (23929), Itsuka Matsushita (2543560)   +4 more
core   +1 more source

Congenital Hypertrophy of the Retinal Pigment Epithelium: Choroidal Cavitation Demonstrated on Spectral-Domain OCT

, 2013
A patient with solitary congenital hypertrophy of the retinal pigment epithelium demonstrated a striking choroidal cavitation on spectral-domain optical coherence tomography (OCT).
Schwartz, Stephen G, Hickey, Marcela, Harry W. Flynn, Marcela Hickey, Stephen G. Schwartz, Flynn, Jr, Harry W   +5 more
core   +1 more source

H36 Segmental Hypoplasia, Retinal, Congenital Toxo

, 1983
Left eye. Optic disc hypoplasia from congenital nasal retinal toxoplasma lesion. Chorioretinal scar. Anatomy: Optic disc, retina. Pathology: Hypoplasia secondary to retinal lesion. Disease/ Diagnosis: Segmental optic disc hypoplasia.curriculum_fellow; IC-
William F. Hoyt, MD
core  

Foveal Hypoplasia in a Child With Tyrosinase-Positive Albinism. [PDF]

Cureus, 2023
Kavalaraki A, Paraskevopoulos K, Kavalaraki M, Karakosta C, Liaskou M.   +4 more
europepmc   +1 more source

Why choose 9-cis retinal for therapy of congenital stationary night blindness caused by G90D rhodopsin?

, 2016
The thermal stability and thermal activity of four G90D rhodopsin isomer models were investigated by QM/MM method. The results implied that one pathological mechanism of congenital stationary night blindness caused by G90D mutation is the low thermal ...
Xie, Peng, Zhang, Yan
core   +1 more source

H35 Segmental Hypoplasia, Retinal-Congenital Toxo

, 1970
Left eye. Moving out temporally to see large chorioretinal scar. Temporal sector hypoplasia from congenital retinal toxoplasmosis. Same patient as H_34. Anatomy: Optic disc; Retina. Pathology: Hypoplasia secondary to retinal lesion.
William F. Hoyt, MD
core