Detailed functional and structural phenotype of Bietti crystalline dystrophy associated with mutations in CYP4V2 complicated by choroidal neovascularization

Ophthalmic Genetics

Volumn 37, Issue 4, 2016, Pages 445-452

  Fuerst, Nicole M ^a   Serrano, Leona ^a   Han, Grace ^a   Morgan, Jessica I W ^a   Maguire, Albert M ^a,b   Leroy, Bart P ^b,c,d   Kim, Benjamin J ^a   Aleman, Tomas S ^a,b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^d GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

Bietti crystalline dystrophy; CNV; CYP4V2; OCT; RPE

Indexed keywords

BEVACIZUMAB; CYTOCHROME P450; CYTOCHROME P450 FAMILY 4 SUBFAMILY V POLYPEPTIDE 2; UNCLASSIFIED DRUG; ANGIOGENESIS INHIBITOR; CYP4V2 PROTEIN, HUMAN; CYTOCHROME P450 FAMILY 4; VASCULOTROPIN A; VEGFA PROTEIN, HUMAN;

ADAPTOMETER; ADULT; ANGIOGRAPHY; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BEST CORRECTED VISUAL ACUITY; BIETTI CRYSTALLINE DYSTROPHY; BLURRED VISION; CASE REPORT; CHORIORETINOPATHY; CHOROIDAL THICKNESS; DARK ADAPTOMETRY; DIGITAL CALIPER; ELECTRORETINOGRAM; EYE EXAMINATION; EYE PHOTOGRAPHY; FEMALE; FLUORESCENCE ANGIOGRAPHY; FOLLOW UP; GENE MUTATION; HUMAN; HUMPHREY PERIMETER; METAMORPHOPSIA; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY DEVICE; PERIMETRY; PHARMACEUTICAL CARE; PHENOTYPE; PRIORITY JOURNAL; RETINA DYSTROPHY; RETINA HEMORRHAGE; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; SUBRETINAL NEOVASCULARIZATION; VITREOUS FLOATERS; ANTAGONISTS AND INHIBITORS; CHOROIDAL NEOVASCULARIZATION; CORNEAL DYSTROPHIES, HEREDITARY; ELECTRORETINOGRAPHY; GENETICS; INTRAVITREAL DRUG ADMINISTRATION; MUTATION; OPTICAL COHERENCE TOMOGRAPHY; PATHOLOGY; PHOTORECEPTOR OUTER SEGMENT; PHYSIOLOGY; RETINAL DISEASES; RETINAL PIGMENT EPITHELIUM; VISUAL ACUITY;

ADULT; ANGIOGENESIS INHIBITORS; BEVACIZUMAB; CHOROIDAL NEOVASCULARIZATION; CORNEAL DYSTROPHIES, HEREDITARY; CYTOCHROME P450 FAMILY 4; ELECTRORETINOGRAPHY; FEMALE; FLUORESCEIN ANGIOGRAPHY; HUMANS; INTRAVITREAL INJECTIONS; MUTATION; PHENOTYPE; RETINAL DISEASES; RETINAL PHOTORECEPTOR CELL OUTER SEGMENT; RETINAL PIGMENT EPITHELIUM; TOMOGRAPHY, OPTICAL COHERENCE; VASCULAR ENDOTHELIAL GROWTH FACTOR A; VISUAL ACUITY; VISUAL FIELD TESTS;

EID: 84961908019     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2015.1126616     Document Type: Article

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