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COMPUTER ASSISTED RETINAL VESSEL TORTUOSITY EVALUATION IN NOVEL MUTATION FABRY DISEASE: Towards New Prognostic Markers.

Abstract Fabry disease is a rare lysosomal storage disorder with systemic involvement. The authors report on a large Fabry family with GLA p.M187R mutation and exhaustive ophthalmologic assessment.
PMID
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Authors

Mayor MeshTerms

Diagnosis, Computer-Assisted

Mutation

Keywords
Journal Title retina (philadelphia, pa.)
Publication Year Start




PMID- 28225726
OWN - NLM
STAT- MEDLINE
DA  - 20170222
DCOM- 20170303
LR  - 20170303
IS  - 1539-2864 (Electronic)
IS  - 0275-004X (Linking)
VI  - 37
IP  - 3
DP  - 2017 Mar
TI  - COMPUTER ASSISTED RETINAL VESSEL TORTUOSITY EVALUATION IN NOVEL MUTATION FABRY
      DISEASE: Towards New Prognostic Markers.
PG  - 592-603
LID - 10.1097/IAE.0000000000001177 [doi]
AB  - PURPOSE: Fabry disease is a rare lysosomal storage disorder with systemic
      involvement. The authors report on a large Fabry family with GLA p.M187R mutation
      and exhaustive ophthalmologic assessment. METHODS: Comprehensive systemic
      evaluation and genetic diagnosis were performed. Ophthalmologic evaluation
      included intraocular pressure/visual acuity measurement, refractometry, slit lamp
      examination, retinography, and optical coherence tomography. Three parameters
      quantified retinal vessel tortuosity: sum of angle metrics, product of angle
      distance, and triangular index. Calculations were semiautomatized using dedicated
      software. RESULTS: Ten individuals (2 males and 8 females) were described.
      Seventy-five percent had retinal vessel tortuosity. One hundred percent had
      cornea verticillata. Perimacular vessels were predominantly involved. The
      correlation between the right and left eye tortuosity measurements was very
      tight. A significant correlation between retinal vessel tortuosity and systemic
      severity measured by general Mainz Severity Score Index (MSSI), renal MSSI, and
      neurological MSSI but no cardiac MSSI was observed. Right sum of angle metrics
      value was an independent statistical predictor of the general-MSSI score in
      presence of age. CONCLUSION: p.M187R mutation causes a severe systemic and
      ophthalmologic phenotype, in both male and female patients. Semiautomatic
      assessment of retinal vessel tortuosity is an objective and reproducible tool.
      All three parameters of tortuosity are closely associated with Fabry severity
      scores. Studies of larger series are being awaited to establish the role of
      retinal vessel tortuosity as a noninvasive marker of disease progression.
FAU - San Roman, Irene
AU  - San Roman I
AD  - *Internal Medicine Department, Reina Sofia Universitary Hospital, Murcia,
      Spain;daggerOphthalmology Department, Arrixaca Universitary Hospital, Murcia
      University, Murcia, Spain;double daggerDepartment of Ophthalmology, Careggi
      Teaching Hospital, Florence, Italy; section signDepartment of Engineering and
      Mathematical Sciences, University of Siena, Siena, Italy; andDepartments of
      paragraph signENT, and**Cardiology, Arrixaca Universitary Hospital, Murcia,
      Spain.
FAU - Rodriguez, Maria-Elena
AU  - Rodriguez ME
FAU - Caporossi, Orsola
AU  - Caporossi O
FAU - Zoppetti, Claudia
AU  - Zoppetti C
FAU - Sodi, Andrea
AU  - Sodi A
FAU - Mecocci, Alessandro
AU  - Mecocci A
FAU - Lopez, David
AU  - Lopez D
FAU - Rodriguez, Beatriz
AU  - Rodriguez B
FAU - Gimeno, Juan-Ramon
AU  - Gimeno JR
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Retina
JT  - Retina (Philadelphia, Pa.)
JID - 8309919
RN  - 0 (Biomarkers)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Biomarkers
MH  - *Diagnosis, Computer-Assisted
MH  - Fabry Disease/*complications/*genetics/physiopathology
MH  - Female
MH  - Humans
MH  - Intraocular Pressure
MH  - Male
MH  - Middle Aged
MH  - *Mutation
MH  - Prognosis
MH  - Refraction, Ocular
MH  - Retinal Diseases/*diagnosis/physiopathology
MH  - Retinal Vessels/*pathology
MH  - Severity of Illness Index
MH  - Tomography, Optical Coherence
MH  - Visual Acuity
EDAT- 2017/02/23 06:00
MHDA- 2017/03/04 06:00
CRDT- 2017/02/23 06:00
AID - 10.1097/IAE.0000000000001177 [doi]
AID - 00006982-201703000-00024 [pii]
PST - ppublish
SO  - Retina. 2017 Mar;37(3):592-603. doi: 10.1097/IAE.0000000000001177.

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