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Insights into <i>CYP1B1</i>-Related Ocular Diseases Through Genetics and Animal Studies. [PDF]

Life (Basel)
Bolton EM, Drackley A, Williams AL, Bohnsack BL.   +3 more
europepmc   +1 more source

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The inheritance of juvenile onset primary open angle glaucoma

Clinical Genetics, 2017
Juvenile onset open angle glaucoma (JOAG) affects patients before 40 years of age, who present with high intraocular pressure and deep steep cupping of the optic nerve head. While it was considered to be inherited in an autosomal dominant fashion, recent studies have shown an autosomal recessive pattern as well as sporadic occurrence of the disease in ...
V, Gupta, B I, Somarajan, S, Gupta, A K, Chaurasia, S, Kumar, P, Dutta, V, Gupta, A, Sharma, B O, Tayo, K, Nischal   +9 more
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Clinical and Genetic Characteristics of Primary Juvenile-Onset Open-Angle Glaucoma (JOAG)

Seminars in Ophthalmology, 2008
Juvenile-onset open-angle glaucoma (JOAG) is an autosomal dominant disease characterized by an early age of onset and severely elevated intraocular pressures. Large JOAG pedigrees have been pivotal in genetic linkage analyses that have helped establish the association between JOAG and the myocilin gene (MYOC).
Angela V, Turalba, Teresa C, Chen
openaire   +4 more sources

Clinical Phenotype of Juvenile-onset Primary Open-angle Glaucoma Linked to Chromosome 1q

Ophthalmology, 1996
Recent reports have suggested that a gene responsible for juvenile-onset primary open-angle glaucoma exists on the long arm of chromosome 1 (1q). This report describes a previously unpublished family (UM:JG3) in which juvenile-onset glaucoma is segregating in an autosomal dominant manner.
A T, Johnson, J E, Richards, M, Boehnke, H M, Stringham, S B, Herman, D J, Wong, P R, Lichter   +6 more
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Clinical correlates to the goniodysgensis among juvenile-onset primary open-angle glaucoma patients

Graefe's Archive for Clinical and Experimental Ophthalmology, 2013
To evaluate gonioscopic features and relate them to clinical characteristics in eyes with juvenile-onset primary open-angle glaucoma (JOAG).Goniophotographs of unrelated JOAG patients, presenting between 10-40 years of age, were evaluated and compared with 60 healthy subjects in the same age group.
Viney, Gupta, Rajat M, Srivastava, Aparna, Rao, Manik, Mittal, John, Fingert   +4 more
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Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree,

Ophthalmology, 1998
This study aimed to update a large kindred with juvenile-onset primary open-angle glaucoma (POAG) first described in 1940 and to identify the underlying genetic cause of the disease.Molecular genetic study of a single kindred, including clinical examination, retrospective review of clinical and family history records, linkage analysis, and mutation ...
J E, Richards, R, Ritch, P R, Lichter, F W, Rozsa, H M, Stringham, R M, Caronia, D, Johnson, G P, Abundo, J, Willcockson, C A, Downs, D A, Thompson, M A, Musarella, N, Gupta, M I, Othman, D M, Torrez, S B, Herman, D J, Wong, M, Higashi, M, Boehnke   +18 more
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