PMID- 27409481
OWN - NLM
STAT- MEDLINE
DCOM- 20170615
LR  - 20171130
IS  - 1552-5783 (Electronic)
IS  - 0146-0404 (Linking)
VI  - 57
IP  - 9
DP  - 2016 Jul 1
TI  - Spectral-Domain Optical Coherence Tomography Findings in Neurofibromatosis Type 
      2.
PG  - OCT262-7
LID - 10.1167/iovs.15-18919 [doi]
AB  - PURPOSE: Neurofibromatosis type 2 (NF2) is an autosomal-dominant disease, 
      characterized by bilateral vestibular schwannomas, multiple central nervous 
      system (CNS) tumors, skin tumors, and juvenile cataract. The present study 
      assessed retinal abnormalities using spectral-domain optical coherence tomography 
      (SD-OCT) in a case series of NF2 patients. METHODS: Nine NF2 patients from the 
      neurofibromatosis outpatient reference center of the Federal University of Minas 
      Gerais, in Brazil, were submitted to a complete anamnesis and a detailed 
      ophthalmic evaluation, including SD-OCT, to detect retinal lesions. RESULTS: Of 
      the nine NF2 patients evaluated, five had an early onset (<20 years) of NF2, and 
      four patients had a late onset (>20 years) of symptoms. SD-OCT scans revealed 
      retinal abnormalities in every patient with early onset (EOS) and in two patients 
      with late onset (LOS) of the disease. In the EOS group, SD-OCT scans revealed 
      flame-shaped epiretinal membranes (ERM) with peculiar characteristics in four 
      eyes of three patients. Two patients had fine undulations of the inner retinal 
      surface with a subtle ERM. Retinal hamartomas were present in four eyes of three 
      patients with EOS; in two eyes, they were subclinical and were detected only by 
      SD-OCT scans. In two patients with LOS and one patient with EOS, SD-OCT scans 
      revealed retinal tufts of a nerve fiber layer. CONCLUSIONS: SD-OCT revealed ERM 
      in most patients with NF2, therefore it may be a valuable exam for evaluating NF2 
      patients. Epiretinal membranes in NF2 has unique features, distinguishing it from 
      idiopathic ERM or membranes associated with other diseases. We suggest that 
      flame-shaped ERM seems to be specific for NF2 and that ERM can be considered as 
      an important diagnostic sign of NF2.
FAU - Waisberg, Vanessa
AU  - Waisberg V
AD  - Department of Ophthalmology Clinical Hospital of Federal University of Minas 
      Gerais, Belo Horizonte (MG), Brazil.
FAU - Rodrigues, Luiz Oswaldo Carneiro
AU  - Rodrigues LO
AD  - Department of Clinical Medicine and Neurofibromatosis Reference Center, Clinical 
      Hospital of Federal University of Minas Gerais, Belo Horizonte (MG), Brazil.
FAU - Nehemy, Marcio Bittar
AU  - Nehemy MB
AD  - Department of Ophthalmology Clinical Hospital of Federal University of Minas 
      Gerais, Belo Horizonte (MG), Brazil.
FAU - Frasson, Maria
AU  - Frasson M
AD  - Department of Ophthalmology Clinical Hospital of Federal University of Minas 
      Gerais, Belo Horizonte (MG), Brazil.
FAU - de Miranda, Debora Marques
AU  - de Miranda DM
AD  - Department of Pediatrics and INCT Molecular Medicine, Clinical Hospital of 
      Federal University of Minas Gerais, Belo Horizonte (MG), Brazil.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Invest Ophthalmol Vis Sci
JT  - Investigative ophthalmology & visual science
JID - 7703701
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Epiretinal Membrane/*diagnosis/etiology
MH  - Female
MH  - Follow-Up Studies
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Neurofibromatosis 2/*complications/diagnosis
MH  - Retina/*pathology
MH  - Retrospective Studies
MH  - Tomography, Optical Coherence/*methods
MH  - Visual Acuity
MH  - Young Adult
EDAT- 2016/07/15 06:00
MHDA- 2017/06/16 06:00
CRDT- 2016/07/14 06:00
PHST- 2016/07/14 06:00 [entrez]
PHST- 2016/07/15 06:00 [pubmed]
PHST- 2017/06/16 06:00 [medline]
AID - 2534115 [pii]
AID - 10.1167/iovs.15-18919 [doi]
PST - ppublish
SO  - Invest Ophthalmol Vis Sci. 2016 Jul 1;57(9):OCT262-7. doi: 10.1167/iovs.15-18919.