PMID- 23513057
OWN - NLM
STAT- MEDLINE
DCOM- 20130625
LR  - 20171116
IS  - 1552-5783 (Electronic)
IS  - 0146-0404 (Linking)
VI  - 54
IP  - 4
DP  - 2013 Apr 26
TI  - Clinical, radiologic, and genetic features in blepharophimosis, ptosis, and 
      epicanthus inversus syndrome in the Indian population.
PG  - 2985-91
LID - 10.1167/iovs.13-11794 [doi]
AB  - PURPOSE: To study the clinical, radiologic, and genetic features in Indian 
      Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) patients. 
      METHODS: A total of 33 clinically well characterized BPES cases who presented 
      between 2009 to 2011 were recruited. Clinical evaluation consisted of ophthalmic 
      and orthoptic examination. For orbital indices, computed tomography (CT) scan of 
      orbits was performed. Genetic studies included cytogenetic analysis and molecular 
      analysis of FOXL2 gene. RESULTS: Significant clinical findings included a high 
      incidence of refractive error in 94%, amblyopia in 60%, and strabismus in 40% of 
      BPES cases. Orbital radiologic indices on CT scan in BPES were found to be 
      comparable to the control group. On karyotyping, 8 out of 33 (24%) cases harbored 
      chromosomal abnormalities. These abnormalities included 46,XY;del(3qter), 
      46,XY;del(3q26.3), 46,XX;del(3q24-25), and 46,XY;del(3q26qter). On molecular 
      analysis, a novel mutation consisting of heterozygous substitution at c1635 that 
      replaced cytosine by thymidine was detected. CONCLUSIONS: To the best of our 
      knowledge, this is the first study on clinical features in BPES patients of 
      Indian origin. A high incidence of refractive error, strabismus, and amblyopia 
      was found in BPES cases. Orbital imaging confirmed that clinical features are 
      limited to soft tissue abnormalities, with no underlying bony changes. 
      Cytogenetic studies showed that most chromosomal abnormalities in the Indian 
      population are in the region of the long arm of chromosome 3. Results of 
      molecular analysis indicate that there may be loci other than the FOXL2 gene, 
      which are affected in BPES cases. Our study expands the existing mutation 
      spectrum of FOXL2 gene.
FAU - Chawla, Bhavna
AU  - Chawla B
AD  - Oculoplastics, Orbit, and Ocular Oncology Service, Dr. Rajendra Prasad Centre for 
      Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India. 
      bhavna2424@hotmail.com
FAU - Bhadange, Yogesh
AU  - Bhadange Y
FAU - Dada, Rima
AU  - Dada R
FAU - Kumar, Manoj
AU  - Kumar M
FAU - Sharma, Sanjay
AU  - Sharma S
FAU - Bajaj, Mandeep S
AU  - Bajaj MS
FAU - Pushker, Neelam
AU  - Pushker N
FAU - Chandra, Mahesh
AU  - Chandra M
FAU - Ghose, Supriyo
AU  - Ghose S
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20130426
PL  - United States
TA  - Invest Ophthalmol Vis Sci
JT  - Investigative ophthalmology & visual science
JID - 7703701
RN  - 0 (FOXL2 protein, human)
RN  - 0 (Forkhead Box Protein L2)
RN  - 0 (Forkhead Transcription Factors)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Amblyopia/complications
MH  - Blepharophimosis/complications/*genetics
MH  - Case-Control Studies
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 3/genetics
MH  - Eyelids/*abnormalities
MH  - Female
MH  - Forkhead Box Protein L2
MH  - Forkhead Transcription Factors/*genetics
MH  - Humans
MH  - India
MH  - Male
MH  - Mutation
MH  - Orbit/diagnostic imaging
MH  - Refractive Errors/complications
MH  - Strabismus/complications
MH  - Syndrome
MH  - Tomography, X-Ray Computed
MH  - Young Adult
EDAT- 2013/03/21 06:00
MHDA- 2013/06/26 06:00
CRDT- 2013/03/21 06:00
PHST- 2013/03/21 06:00 [entrez]
PHST- 2013/03/21 06:00 [pubmed]
PHST- 2013/06/26 06:00 [medline]
AID - iovs.13-11794 [pii]
AID - 10.1167/iovs.13-11794 [doi]
PST - epublish
SO  - Invest Ophthalmol Vis Sci. 2013 Apr 26;54(4):2985-91. doi: 10.1167/iovs.13-11794.