Search results for "Congenital glaucoma"
showing 2 items of 2 documents
Spontaneous Resolution of Delayed Suprachoroidal Hemorrhage in the Single Eye Following Needling in Congenital Glaucoma
2017
Suprachoroidal hemorrhage (SCH) is a rare, but potentially vision-threatening event with poor long-term visual prognosis. At present, there is disagreement whether surgical intervention or conservative treatment is superior in the management. We report on a case of spontaneous resolution of severe SCH after needling procedure in the only eye of a young patient with congenital glaucoma.A 43-year-old woman with congenital glaucoma was scheduled for bleb needling in her only eye. Preoperative best-corrected visual acuity was 20/40 and intraocular pressure 20 mm Hg. On the third postoperative day, she developed a massive delayed SCH with appositional (kissing) choroidal bullae and visual acuity…
Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma
2016
Background Primary congenital glaucoma (PCG) and early onset glaucomas are one of the major causes of children and young adult blindness worldwide. Both autosomal recessive and dominant inheritance have been described with involvement of several genes including CYP1B1, FOXC1, PITX2, MYOC and PAX6. However, mutations in these genes explain only a small fraction of cases suggesting the presence of further candidate genes. Methods To elucidate further genetic causes of these conditions whole exome sequencing (WES) was performed in an Italian patient, diagnosed with PCG and retinal detachment, and his unaffected parents. Sanger sequencing of the complete coding region of COL1A1 was performed in…