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Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of primary open-angle glaucoma.

Chen J, Cai SP, Yu W, Yan N, Tang L, Chen X, Liu X - Mol. Vis. (2011)

Bottom Line: Exons of MYOC and CYP1B1 were amplified by polymerase chain reaction, sequenced, and compared with a reference database.Elevated intraocular pressure and impaired visual field were found in all patients.Meanwhile, four single nucleotide polymorphisms in MYOC and CYP1B1 genes were found.

View Article: PubMed Central - PubMed

Affiliation: Ophthalmic Laboratories and Department of Ophthalmology, West China Hospital, Sichuan University, PR China.

ABSTRACT

Purpose: To analyze two candidate genes, trabecular meshwork inducible glucocorticoid response (MYOC/TIGR) and human dioxin-inducible cytochrome P450 (CYP1B1), in a Chinese pedigree of primary open-angle glaucoma.

Methods: In a three-generation family containing 14 members, four of them were patients with primary open-angle glaucoma, one was a glaucoma suspect, and the rest were asymptomatic. All members of the family underwent complete ophthalmologic examinations. Exons of MYOC and CYP1B1 were amplified by polymerase chain reaction, sequenced, and compared with a reference database.

Results: Elevated intraocular pressure and impaired visual field were found in all patients. One MYOC heterozygous mutation G367R, in exon 3 was identified in four patients and the suspect, but not in the rest of the family members. Meanwhile, four single nucleotide polymorphisms in MYOC and CYP1B1 genes were found.

Conclusions: Although the G367R mutation of MYOC, which causes primary open-angle glaucoma in the form of autosomal dominant inheritance, has been reported in some other ethnicities, it was found in Chinese pedigree for the first time.

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Related in: MedlinePlus

Visual fields of patients. Visual field of I-2 (A, B), II-1 (C, D), II-3 (E, F), and II-6 (G, H).
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f2: Visual fields of patients. Visual field of I-2 (A, B), II-1 (C, D), II-3 (E, F), and II-6 (G, H).

Mentions: The proband (II-3) was diagnosed with POAG (both eyes) at the age of 46, with elevated IOPs (26.7 mmHg in the right eye and 23.1 mmHg in the left eye), open anterior chamber angle, enlarged cup-disc ratio of 0.5/0.6(OD/OS) and characteristic glaucomatous visual field defects (Figure 2). Other ocular abnormalities or systemic disorders were not found.


Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of primary open-angle glaucoma.

Chen J, Cai SP, Yu W, Yan N, Tang L, Chen X, Liu X - Mol. Vis. (2011)

Visual fields of patients. Visual field of I-2 (A, B), II-1 (C, D), II-3 (E, F), and II-6 (G, H).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3108900&req=5

f2: Visual fields of patients. Visual field of I-2 (A, B), II-1 (C, D), II-3 (E, F), and II-6 (G, H).
Mentions: The proband (II-3) was diagnosed with POAG (both eyes) at the age of 46, with elevated IOPs (26.7 mmHg in the right eye and 23.1 mmHg in the left eye), open anterior chamber angle, enlarged cup-disc ratio of 0.5/0.6(OD/OS) and characteristic glaucomatous visual field defects (Figure 2). Other ocular abnormalities or systemic disorders were not found.

Bottom Line: Exons of MYOC and CYP1B1 were amplified by polymerase chain reaction, sequenced, and compared with a reference database.Elevated intraocular pressure and impaired visual field were found in all patients.Meanwhile, four single nucleotide polymorphisms in MYOC and CYP1B1 genes were found.

View Article: PubMed Central - PubMed

Affiliation: Ophthalmic Laboratories and Department of Ophthalmology, West China Hospital, Sichuan University, PR China.

ABSTRACT

Purpose: To analyze two candidate genes, trabecular meshwork inducible glucocorticoid response (MYOC/TIGR) and human dioxin-inducible cytochrome P450 (CYP1B1), in a Chinese pedigree of primary open-angle glaucoma.

Methods: In a three-generation family containing 14 members, four of them were patients with primary open-angle glaucoma, one was a glaucoma suspect, and the rest were asymptomatic. All members of the family underwent complete ophthalmologic examinations. Exons of MYOC and CYP1B1 were amplified by polymerase chain reaction, sequenced, and compared with a reference database.

Results: Elevated intraocular pressure and impaired visual field were found in all patients. One MYOC heterozygous mutation G367R, in exon 3 was identified in four patients and the suspect, but not in the rest of the family members. Meanwhile, four single nucleotide polymorphisms in MYOC and CYP1B1 genes were found.

Conclusions: Although the G367R mutation of MYOC, which causes primary open-angle glaucoma in the form of autosomal dominant inheritance, has been reported in some other ethnicities, it was found in Chinese pedigree for the first time.

Show MeSH
Related in: MedlinePlus