April 2014
Volume 55, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2014
Ocular and extraocular features of Arabian children with Peters anomaly
Author Affiliations & Notes
  • Arif O Khan
    Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
  • Saleh Al-Mesfer
    Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
  • Shahira Al-Turkmani
    Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
  • S Amer Riazuddin
    The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD
  • Footnotes
    Commercial Relationships Arif Khan, None; Saleh Al-Mesfer, None; Shahira Al-Turkmani, None; S Amer Riazuddin, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science April 2014, Vol.55, 4504. doi:
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      Arif O Khan, Saleh Al-Mesfer, Shahira Al-Turkmani, S Amer Riazuddin; Ocular and extraocular features of Arabian children with Peters anomaly. Invest. Ophthalmol. Vis. Sci. 2014;55(13):4504.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract
 
Purpose
 

Peters anomaly, a spectrum of central posterior corneal abnormality with variable adhesion to the iris and/or lens, can be isolated or associated with different clinical findings. In the Middle East, where intrafamilial (consanguineous) and intratribal (endogamous) marriages are socially acceptable and practiced, phenotypic and genetic features may differ from what has been previously reported. Over the last 2 years we have prospectively enrolled families of children previously diagnosed with Peters anomaly at the King Khaled Eye Specialist Hospital in Riyadh, Saudi Arabia, to participate in a clinical-genetic study of the disorder in the region. This study describes phenotypes of our cohort to date.

 
Methods
 

Clinical history, ophthalmic examination, general physical examination with attention to facial features.

 
Results
 

36 cases are enrolled to date. 23 were sporadic (simplex), of which 17 were bilateral. 13 were familial (multiplex) from 5 families, all of which were bilateral. Regarding the 5 multiplex families, 4 had inheritance compatible with autosomal recessive disease while the 5th had inheritance consistent with autosomal dominant disease. All cases were from consanguineous and/or endogamous families except for the individuals from the one apparently autosomal dominant family. Familial cases had ocular phenotypes of 2 types: (1) small central corneal opacity with lenticulocorneal adhesion and shallow anterior chamber or (2) large central corneal opacity with iridocorneal adhesion and deep anterior chamber. Regarding extraocular findings in our cohort, 17 cases had long philtrum (often with a thin upper lip), 5 had grossly abnormal ears, 2 had developmental delay, 1 had short stature, and 1 had congenital heart defect.

 
Conclusions
 

Peters anomaly is often bilateral in this population, even in simplex cases. Two distinct familial ocular phenotypes are recognizable. Long philtrum, often with a thin upper lip, is a typical extraocular feature. Recessive cause seems common but this needs to be confirmed with genetic study.

 
 
The phenotype of small central corneal opacity with lenticulocorneal adhesion (and lens opacity) can be appreciated in subject JHAA-055.
 
The phenotype of small central corneal opacity with lenticulocorneal adhesion (and lens opacity) can be appreciated in subject JHAA-055.
 
 
The recurrent extraocular feature of long philtrum with thin upper lip can be appreciated in subject JHAA-70.
 
The recurrent extraocular feature of long philtrum with thin upper lip can be appreciated in subject JHAA-70.
 
Keywords: 421 anterior segment • 539 genetics • 479 cornea: clinical science  
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