Retinal astrocytic hamartoma and Stargardt's disease: Unusual association in a patient with ABCR mutation without phacomatosis

Clinical and Experimental Ophthalmology

Volumn 35, Issue 8, 2007, Pages 777-779

  Bini, Alessandro ^a   Sodi, Andrea ^a   Passerini, Ilaria ^a   Menchini, Ugo ^a   Torricelli, Francesca ^a  

^a CAREGGI UNIVERSITY HOSPITAL   (Italy)

Author keywords

ABCR gene; Astrocytichamartoma; Maculardy strophy; Stargardt's disease

Indexed keywords

GENE PRODUCT; PROTEIN ABCR; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; B SCAN; CASE REPORT; CELL PROLIFERATION; CLINICAL FEATURE; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DISEASE ASSOCIATION; ELECTRORETINOGRAPHY; FLUORESCENCE ANGIOGRAPHY; FOLLOW UP; GENE SEQUENCE; HAMARTOMA; HETEROZYGOTE; HUMAN; MALE; MISSENSE MUTATION; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; PHAKOMATOSIS; RETINA ANGIOGRAPHY; RETINA ASTROCYTIC HAMARTOMA; RETINA DISEASE; RETINA MACULA DEGENERATION; SEQUENCE ANALYSIS; STARGARDT DISEASE; VISUAL ACUITY;

ADULT; ATP-BINDING CASSETTE TRANSPORTERS; ELECTRORETINOGRAPHY; FLUORESCEIN ANGIOGRAPHY; HAMARTOMA; HUMANS; MACULAR DEGENERATION; MALE; MUTATION, MISSENSE; RETINAL DISEASES; TOMOGRAPHY, OPTICAL COHERENCE;

EID: 36049024038     PISSN: 14426404     EISSN: 14429071     Source Type: Journal    
DOI: 10.1111/j.1442-9071.2007.01582.x     Document Type: Article

References (5)

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