COMBINED CHOROIDAL NEOVASCULARIZATION AND HYPOPITUITARISM IN A PATIENT WITH HOMOZYGOUS MUTATION IN METHYLENETETRAHYDROFOLATE REDUCTASE GENE (CASE REPORT)

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AYDOGDU AYDOGAN; HAYMANA CEM; BASKOY KAMIL; DURUKAN ALI H.; OZGUR GOKHAN; AZAL OMER

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Journal: JOURNAL OF RESEARCH IN MEDICAL SCIENCES (JRMS) Year:2014 | Volume:18 | Issue:1 Page(s): 75-79

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Title

COMBINED CHOROIDAL NEOVASCULARIZATION AND HYPOPITUITARISM IN A PATIENT WITH HOMOZYGOUS MUTATION IN METHYLENETETRAHYDROFOLATE REDUCTASE GENE (CASE REPORT)

Author(s)

Keywords

CHOROIDAL NEOVASCULARIZATION

DRUG THERAPY

HYPOPITUITARISM

INTRAVITREAL INJECTIONS

METHYLENETETRAHYDROFOLATE REDUCTASE DEFI CIENCY

MTHFR

RANIBIZUMAB

VASCULAR ENDOTHELIAL GROWTH FACTOR

Abstract

We report a case of CHOROIDAL NEOVASCULARIZATION (CNV) secondary to methylenetetrahydrofolate reductase (MTHFR) gene mutation in a 20-year-old male patient with HYPOPITUITARISM. Treatment with three consecutive injections of intravitreal RANIBIZUMAB (anti-vascular endothelial growth factor) resulted in significant improvement of the patient's vision and the appearance of the macula. A search of the literature produced no previously reported case of MTHFR gene mutation associated both CNV and possibly HYPOPITUITARISM. With hormone replacement therapy of HYPOPITUITARISM, acetyl salicylic acid 100 mg/day also was started. The patient was clinically stable both for CNV and other thromboembolic disorders over a 6-month follow-up and also 1-year follow-up period.

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APA: Copy

AYDOGDU, AYDOGAN, HAYMANA, CEM, BASKOY, KAMIL, DURUKAN, ALI H., OZGUR, GOKHAN, & AZAL, OMER. (2014). COMBINED CHOROIDAL NEOVASCULARIZATION AND HYPOPITUITARISM IN A PATIENT WITH HOMOZYGOUS MUTATION IN METHYLENETETRAHYDROFOLATE REDUCTASE GENE (CASE REPORT). JOURNAL OF RESEARCH IN MEDICAL SCIENCES (JRMS), 18(1), 75-79. SID. https://sid.ir/paper/635157/en

Vancouver: Copy

AYDOGDU AYDOGAN, HAYMANA CEM, BASKOY KAMIL, DURUKAN ALI H., OZGUR GOKHAN, AZAL OMER. COMBINED CHOROIDAL NEOVASCULARIZATION AND HYPOPITUITARISM IN A PATIENT WITH HOMOZYGOUS MUTATION IN METHYLENETETRAHYDROFOLATE REDUCTASE GENE (CASE REPORT). JOURNAL OF RESEARCH IN MEDICAL SCIENCES (JRMS)[Internet]. 2014;18(1):75-79. Available from: https://sid.ir/paper/635157/en

IEEE: Copy

AYDOGAN AYDOGDU, CEM HAYMANA, KAMIL BASKOY, ALI H. DURUKAN, GOKHAN OZGUR, and OMER AZAL, “COMBINED CHOROIDAL NEOVASCULARIZATION AND HYPOPITUITARISM IN A PATIENT WITH HOMOZYGOUS MUTATION IN METHYLENETETRAHYDROFOLATE REDUCTASE GENE (CASE REPORT),” JOURNAL OF RESEARCH IN MEDICAL SCIENCES (JRMS), vol. 18, no. 1, pp. 75–79, 2014, [Online]. Available: https://sid.ir/paper/635157/en

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