This study ensures an age-adjusted pediatric normative database using OCT to diagnose and monitor macular diseases, optic nerve diseases, and glaucoma in children.
We examined <i>CYP1B1</i> in 158 pediatric patients affected with PCG (eight), CG with ASD (22), CG with other developmental ocular disorders (11), juvenile glaucoma with or without additional ocular anomalies (26), and ASD or other developmental ocular conditions without glaucoma (91); in addition, a large cohort of adult patients with POAG (193) and POAG-negative controls (288) was examined.
We studied 168 unrelated Japanese patients with primary open-angle glaucoma (POAG), 163 unrelated Japanese patients with normal tension glaucoma (NTG), 45 unrelated Japanese patients with developmental glaucoma (DG), and 180 ethnically matched normal controls, to determine whether variants in the vav 2 guanine nucleotide exchange factor (VAV2) and vav 3 guanine nucleotide exchange factor (VAV3) genes are associated with POAG, NTG, or DG in the Japanese.
Direct parent-offspring transmission of phenotype was statistically significantly more common in ASD-associated infantile glaucoma (2/8) than in PIG (1/56) pedigrees (p = 0.039).
Direct parent-offspring transmission of phenotype was statistically significantly more common in ASD-associated infantile glaucoma (2/8) than in PIG (1/56) pedigrees (p = 0.039).
Direct parent-offspring transmission of phenotype was statistically significantly more common in ASD-associated infantile glaucoma (2/8) than in PIG (1/56) pedigrees (p = 0.039).
Two new structural alterations in the FOXC1 gene and a polymorphism in the GJA1 gene were first described in Brazilian patients with AR and developmental glaucoma.
In a third family with developmental glaucoma a novel mutation (c.3496G>A; p.Gly1166Arg) was identified in the PXDN gene, which segregates with the disease.
Here, we report homozygous mutations in peroxidasin (PXDN) in two consanguineous Pakistani families with congenital cataract-microcornea with mild to moderate corneal opacity and in a consanguineous Cambodian family with developmental glaucoma and severe corneal opacification.
Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.