Preface

Jarind's Letters

Sims'Letters

Genetic Lists

Prevention

Letters of Signs

Genetic Lists of Abnormal Genes ( Lists of Sims' Letters)

 

O = Eye & Special visual sense

Retinoblastoma                     Aniridia


Telangiectasia           Ocular coloboma

o1 = Albino ( Ocular type ) X-linked recessive
o2 = Aniridia ( in Aniridia- Wilms tumor syndrome )
Deleted segment  11p13-11p14.1 Chromosome
O3 = Antimongoloid slant palpebral fissure
( in 5p- syndrome )
o4 = Aphakia ( in Homocystinuria ) autosomal recessive
o5 = Ataxia telangiectasia (of conjunctiva)
autosomal recessive
O6 = Brushfield spots on Iris ( in Down Syndrome )
o7 = Cherry-red macular spot of degenerated retina
( in Tay-Sachs disease ) autosomal recessive
o8 = Color blindness X-linked recessive
o9 = Congenital cataract ( in Homocystinuria ,etc.)
autosomal recessive
o10 = Congenital glaucoma ( in Homocystinuria ,etc.)
autosomal recessive
O11 = Congenital squint( Strabismus )
( in 4P- syndrome,Marfan's syn.)
o12 = Corneal clouding ( in Mucopolysaccharidoses)
autosomal recessive
O13 = Epicanthal fold ( in 5p-,Trisomy 18,21 syndrome)
o14 = Hypermetropia
o15 = Kayser-Fleischer ring of cornea autosomal recessive
( in Wilson's disease )
o16 = Myopia
O17 = Ocular coloboma ( in 4P-,Marfan's syndrome )
O18 = Progressive dystrophia ophthalmoplegia
autosomal dominant
O19,o19 = Retinal detachment ( in Marfan's syn.,Homocystinuria )
autosomal dominant, autosomal recessive
o20 = Retinitis pigmentosa ( Night-blindness,Laurence-Moon-Bardet-Biedl syndrome )
O21 = Retinoblastoma autosomal dominant
( in subgroup of 13Q- syndrome which 13q14 band is missing )
O22 = Slanted palpebral fissures(outter upward) ( in Trisomy21 )
O23 = Subluxation of Lens( Ectopia Lentis )
in Ehlers-Danlos syn. autosomal dominant,
O24,o24 = Subluxation of Lens( Ectopia Lentis )
in Marfan's syn. autosomal dominant,
in Homocystinuria autosomal recessive
O25 = White forelock and pale irides autosomal dominant
( in Waardenburg syndrome )
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Update since 10/09/50