Neurofibromatosis type 2 in an infant presenting with visual impairment confirmed by genetic mutation analysis

Retina

Volumn 25, Issue 7, 2005, Pages 938-939

  Kim, Judy E ^a   Ruttum, Mark S ^a  

^a MEDICAL COLLEGE OF WISCONSIN   (United States)

Author keywords

Cataract; Combined hamartoma of the retina and pigment epithelium; Epiretinal membrane; Genetic analysis; Mutation; Neurofibromatosis type 2; Visual impairment

Indexed keywords

GENOMIC DNA;

ARTICLE; BLOOD SAMPLING; CASE REPORT; CATARACT; EARLY DIAGNOSIS; EPIRETINAL MEMBRANE; EVOKED BRAIN STEM AUDITORY RESPONSE; FLUORESCENCE ANGIOGRAPHY; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; HAMARTOMA; HUMAN; INFANT; MALE; NEUROFIBROMATOSIS; NYSTAGMUS; PIGMENT EPITHELIUM; RETINA TUMOR; VISUAL IMPAIRMENT;

CHROMOSOMES, HUMAN, PAIR 22; DNA MUTATIONAL ANALYSIS; EXONS; FLUORESCEIN ANGIOGRAPHY; GENES, NEUROFIBROMATOSIS 2; HUMANS; INFANT; MALE; NEUROFIBROMATOSIS 2; POINT MUTATION; POLYMERASE CHAIN REACTION; VISION DISORDERS;

EID: 26844437172     PISSN: 0275004X     EISSN: None     Source Type: Journal    
DOI: 10.1097/00006982-200510000-00019     Document Type: Article

References (7)

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