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Year : 2017  |  Volume : 10  |  Issue : 3  |  Page : 263  

Two brothers with reduced vision

1 Department of Ophthalmology, AIIMS, Rishikesh, Uttarakhand, India
2 Department of Cardiology, AIIMS, Rishikesh, Uttarakhand, India

Date of Web Publication5-Oct-2017

Correspondence Address:
Anupam Singh
Department of Ophthalmology, AIIMS, Rishikesh - 249 203, Uttarakhand
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ojo.OJO_12_2015

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How to cite this article:
Singh A, Kumar B, Piplani B, Bahuguna C, Kumar G. Two brothers with reduced vision. Oman J Ophthalmol 2017;10:263

How to cite this URL:
Singh A, Kumar B, Piplani B, Bahuguna C, Kumar G. Two brothers with reduced vision. Oman J Ophthalmol [serial online] 2017 [cited 2018 Mar 19];10:263. Available from: http://www.ojoonline.org/text.asp?2017/10/3/263/215988

6-year-old boy and his 18-month-old younger brother presented to outpatient department with decreased vision and abnormal appearance of eyes since early childhood. They were otherwise healthy and born at term out of a consanguineous marriage. The best-corrected visual acuity in the elder brother was 6/12, N8 right eye and 6/36, N10 left eye with refractive error of + 7 D sph/+2 D cyl axis 90° in both eyes. Refractive error in his sibling was + 8 D sph/+2 D cyl axis 180° both eyes. In both children, ocular examination revealed small, horizontally oval corneas [8–9 mm horizontal diameter; [Figure 1] with wide limbal zone. There were superficial stromal central nebulomacular corneal opacities in both eyes without any associated vascularization. Intraocular pressures were normal with clear lens and clear red reflex posterior segment findings were with in normal limits.
Figure 1: Clinical photograph of case one showing central nebulomacular cornea opacity, horizontally oval and flat cornea

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   Questions Top

  1. What is the differential diagnosis?
  2. What additional test is required to confirm the diagnosis?
  3. How will you manage these cases?

   Answers for Clinical Quiz Top

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   References Top

Pellegata NS, Dieguez-Lucena JL, Joensuu T, Lau S, Montgomery KT, Krahe R, et al. Mutations in KERA, encoding keratocan, cause cornea plana. Nat Genet 2000;25:91-5.  Back to cited text no. 1
Lehmann OJ, El-ashry MF, Ebenezer ND, Ocaka L, Francis PJ, Wilkie SE, et al. A novel keratocan mutation causing autosomal recessive cornea plana. Invest Ophthalmol Vis Sci 2001;42:3118-22.  Back to cited text no. 2
Khan A, Al-Saif A, Kambouris M. A novel KERA mutation associated with autosomal recessive cornea plana. Ophthalmic Genet 2004;25:147-52.  Back to cited text no. 3


  [Figure 1], [Figure 2], [Figure 3]


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