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About 382 results

ALLMedicine™ Anterior Segment Dysgenesis Center

Research & Reviews  191 results

Progressive Loss of Retinal Ganglion Cells in Activating Protein-2β Neural Crest Cell K...
https://doi.org/10.1080/02713683.2021.1901939
Current Eye Research; Taiyab A, Saraco A et. al.

Mar 10th, 2021 - Purpose: Our lab has shown that conditionally disrupting the transcription factor activating protein 2β (Tfap2b) gene, responsible for the activating protein-2β (AP-2β) transcription factor, exclusively in cranial neural crest cells (AP-2β NCC KO)...

Bilateral anterior segment dysgenesis and peripheral avascular retina with tractional r...
https://doi.org/10.1080/13816810.2021.1888133
Ophthalmic Genetics; Wu F, Goldenberg PC et. al.

Feb 23rd, 2021 - Background: Multiple congenital anomalies-hypotony-seizures syndrome 3 (MCAHS3) is a rare autosomal recessive disorder caused by mutations in the PIGT gene. PIGT encodes phosphatidylinositol-glycan biosynthesis class T, which plays a crucial role ...

Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia.
https://doi.org/10.1111/cge.13897
Clinical Genetics; Reis LM, Costakos D et. al.

Dec 14th, 2020 - Complex microphthalmia is characterized by small eyes with additional abnormalities that may include anterior segment dysgenesis. While many genes are known, a genetic cause is identified in only 4-30% of microphthalmia, with the lowest rate in un...

Histopathological examination of congenital corneal staphyloma and prognosis after pene...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7535690
Medicine Wan Y, Xiao G et. al.

Oct 6th, 2020 - The aim of this study was to investigate the histopathological manifestations of congenital corneal staphyloma accompanied by anterior segment dysgenesis and evaluate the prognosis after penetrating keratoplasty with an ultralarge button graft.We ...

Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clini...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7518604
PloS One; Rashid M, Qasim M et. al.

Sep 25th, 2020 - Significant number out of 2.2 billion vision impairments in the world can be attributed to genetics. The current study is aimed to decipher the genetic basis of Leber congenital Amaurosis (LCA), Anterior Segment dysgenesis (ASD), and Retinitis Pig...

see more →

Clinicaltrials.gov  191 results

Progressive Loss of Retinal Ganglion Cells in Activating Protein-2β Neural Crest Cell K...
https://doi.org/10.1080/02713683.2021.1901939
Current Eye Research; Taiyab A, Saraco A et. al.

Mar 10th, 2021 - Purpose: Our lab has shown that conditionally disrupting the transcription factor activating protein 2β (Tfap2b) gene, responsible for the activating protein-2β (AP-2β) transcription factor, exclusively in cranial neural crest cells (AP-2β NCC KO)...

Bilateral anterior segment dysgenesis and peripheral avascular retina with tractional r...
https://doi.org/10.1080/13816810.2021.1888133
Ophthalmic Genetics; Wu F, Goldenberg PC et. al.

Feb 23rd, 2021 - Background: Multiple congenital anomalies-hypotony-seizures syndrome 3 (MCAHS3) is a rare autosomal recessive disorder caused by mutations in the PIGT gene. PIGT encodes phosphatidylinositol-glycan biosynthesis class T, which plays a crucial role ...

Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia.
https://doi.org/10.1111/cge.13897
Clinical Genetics; Reis LM, Costakos D et. al.

Dec 14th, 2020 - Complex microphthalmia is characterized by small eyes with additional abnormalities that may include anterior segment dysgenesis. While many genes are known, a genetic cause is identified in only 4-30% of microphthalmia, with the lowest rate in un...

Histopathological examination of congenital corneal staphyloma and prognosis after pene...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7535690
Medicine Wan Y, Xiao G et. al.

Oct 6th, 2020 - The aim of this study was to investigate the histopathological manifestations of congenital corneal staphyloma accompanied by anterior segment dysgenesis and evaluate the prognosis after penetrating keratoplasty with an ultralarge button graft.We ...

Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clini...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7518604
PloS One; Rashid M, Qasim M et. al.

Sep 25th, 2020 - Significant number out of 2.2 billion vision impairments in the world can be attributed to genetics. The current study is aimed to decipher the genetic basis of Leber congenital Amaurosis (LCA), Anterior Segment dysgenesis (ASD), and Retinitis Pig...

see more →