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Br J Ophthalmol 89:1538-1540 doi:10.1136/bjo.2005.073510
  • Letter

Pellucid marginal degeneration coexistent with cornea plana in one member of a family exhibiting a novel KERA mutation

Table 1

 Pertinent biometric and clinical characteristics of the family are summarised

1 2 3 4 5 6 7 8 9 10 11 12
Age (years) 50 43 26 24 23 19 18 17 12 10 8 6
Keratometry RE 43.32, 43.95102 40.61, 41.06017 26.49, 28.60060 45.79, 52.73085 29.74, 32.23138 42.51, 42.78076 28.77, 30.21086 43.10, 43.49077 41.01, 41.98093 39.52, 40.37087 23.94, 26.81035 31.72, 33.19180
Keratometry LE 43.44, 44.23101 40.96, 41.98082 26.66, 30.13104 38.66, 47.14149 29.76, 31.78065 42.51, 42.94105 29.27, 33.28090 42.72, 43.66093 41.11, 42.51092 39.61, 40.27087 24.83, 27.42117 32.02, 33.48158
Horizontal corneal diameter (RE, LE in mm) 10, 10 11, 11 8, 8 8, 8 8, 8 10, 10 8, 8 10, 10 11, 11 11, 11 8, 8 8, 8
Axial length (RE, LE in mm) 22.89, 22.34 23.81, 23.78 21.55, 21.62 25.17, 24.88 21.97, 22.05 23.43, 23.68 22.91, 23.65 23.19, 22.98 24.13, 24.05 24.11, 24.22 24.13, 23.88 22.18, 22.61
Cycloplegic refraction, vision with refraction RE +0.50, 20/30 plano, 20/20 +8.50, 20/60 plano-10.00 ×110, 20/60 +9.50−3.00×030, 20/30 −1.25 20/25 +10.00−1.00×080, 20/30 −0.75, 20/20 −0.50, 20/20 −0.25, 20/20 +8.50−2.50×107, 20/40 +8.00, 2/30
Cycloplegic refraction, vision with refraction LE +2.00, 20/60 −0.50, 20/20 +1.00−9.00×060, 20/50 plano-10.00 ×070, 20/50 +11.00−2.50×140, 20/60 −1.50 20/25 +9.00−1.00×180, 20/50 −0.50, 20/20 −0.50, 20/20 plano, 20/20 +9.00, 20/125 +8.00, 12/30
Comments Amblyopia LE, anterior chamber shallow both eyes, peripheral stromal haze both eyes Prominent arcus senilis both eyes, otherwise normal ophthalmic exam Amblyopia LE, 16 prism dioptres esotropia at near with correction Pellucid marginal degeneration both eyes, small cornea both eyes, arcus senilis both eyes Amblyopia LE>RE, 20 prism dioptres esotropia at near with correction Normal ophthalmic exam with deep anterior chamber both eyes Amblyopia LE Normal ophthalmic exam with deep anterior chamber both eyes Normal ophthalmic exam with deep anterior chamber both eyes Normal ophthalmic exam with deep anterior chamber both eyes Amblyopia LE>RE, 40 prism dioptres V-pattern esotropia at near with correction, iris defect RE Amblyopia RE>LE, poor cooperation

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