aniridia is a rare bilateral congenital malformation of iris due to neuro - ectodermal developmental defect secondary to a mutation in pax6 gene located on chromosome 11p13 .
the incidence of aniridia is estimated to be 1 in 60,000 - 100,000 live births.1 it exists in both sporadic and familial form .
it may occur in isolation or associated with number of syndromes such as wagr ( wilm 's tumor , bilateral aniridia , genitourinary abnormalities and mental retardation ) .
the pax6 mutations cause a spectrum of ocular malformations , of which aniridia is the major sign .
other ocular defect that may be associated includes microcornea , corneal opacity , glaucoma , cataract , subluxated lens , foveal and optic nerve hypoplasia .
we report two cases of familial total aniridia associated with microcornea , high myopia and aphakia .
a 40-year - old male patient presented with marked dimness of vision for last 1 year .
his elder brother ( only sibling ) had visual acuity of 6/6 with -1.5 dioptre sphere ( dsph ) without any other ocular abnormalities .
ocular examination revealed best corrected visual acuity in right eye ( re ) counting finger at 3 feet and 3/60 in left eye ( le ) with + 7.0 dsph .
slit lamp examination showed bilateral total aniridia with superiorly subluxated cataractous lens in the re [ figure 1 ] and aphakia in the le .
the radius of corneal curvature was 8.8 mm in the re and 8.6 mm in the le .
the refractive power of cornea of the re in dioptre ( d ) was 39.0 in both vertical and horizontal meridian .
the anterior chamber depth in the re was 1.54 mm and in the le was 1.48 .
the axial length was 25.57 mm and 25.34 mm in the re and le respectively .
gonioscopy of be revealed rudimentary frill of iris tissue in all quadrants and the angle was open .
aniridia with superiorly subluxated lens dislocated lens in vitreous a 7-year - old girl , the only child of case i , had poor vision since early childhood .
her best corrected visual acuity was 6/36 be with -7.0 dsph and -1.0 dioptre cylinder ( dcyl ) at 90. she had bilateral total aniridia , microcornea , microspherophekic lens [ figure 3 ] and horizontal nystagmus .
average corneal diameter of be was 9.5 mm . radius of corneal curvature was 8.6 mm in the re and 8.3 mm in the le .
the refractive power of cornea of the re was 38.5d in vertical and 37.5d in horizontal meridian .
the diameter of lens was 7.9 mm in be and iop in be with goldmann applanation tonometry was 14 mm hg .
gonioscopy of be revealed rudimentary frill of iris tissue in all quadrants and the angle was open .
fundus examination of be revealed normal optic disc with foveal hypoplasia [ figure 4 ] .
a 40-year - old male patient presented with marked dimness of vision for last 1 year .
his elder brother ( only sibling ) had visual acuity of 6/6 with -1.5 dioptre sphere ( dsph ) without any other ocular abnormalities .
ocular examination revealed best corrected visual acuity in right eye ( re ) counting finger at 3 feet and 3/60 in left eye ( le ) with + 7.0 dsph .
slit lamp examination showed bilateral total aniridia with superiorly subluxated cataractous lens in the re [ figure 1 ] and aphakia in the le .
the radius of corneal curvature was 8.8 mm in the re and 8.6 mm in the le .
the refractive power of cornea of the re in dioptre ( d ) was 39.0 in both vertical and horizontal meridian .
the anterior chamber depth in the re was 1.54 mm and in the le was 1.48 .
the axial length was 25.57 mm and 25.34 mm in the re and le respectively .
gonioscopy of be revealed rudimentary frill of iris tissue in all quadrants and the angle was open .
a 7-year - old girl , the only child of case i , had poor vision since early childhood .
her best corrected visual acuity was 6/36 be with -7.0 dsph and -1.0 dioptre cylinder ( dcyl ) at 90. she had bilateral total aniridia , microcornea , microspherophekic lens [ figure 3 ] and horizontal nystagmus .
average corneal diameter of be was 9.5 mm . radius of corneal curvature was 8.6 mm in the re and 8.3 mm in the le .
the refractive power of cornea of the re was 38.5d in vertical and 37.5d in horizontal meridian .
the diameter of lens was 7.9 mm in be and iop in be with goldmann applanation tonometry was 14 mm hg .
gonioscopy of be revealed rudimentary frill of iris tissue in all quadrants and the angle was open .
fundus examination of be revealed normal optic disc with foveal hypoplasia [ figure 4 ] .
aniridia is a rare congenital abnormality transmitted as an autosomal dominant trait with 85 - 90% penetrance.2 microcornea may rarely be associated with aniridia.34 high myopia is again a very rare association with aniridia and microcornea.5 both these abnormalities were present in our case .
aniridia and lenticular abnormalities like cataract and subluxated lens may co - exist.134 ] case i had subluxated cataractous lens in the re and aphakia in the le due to spontaneously dislocated lens in vitreous cavity in the le . to the best of our knowledge , in the literature of aniridia association of aphakia
aniridia may be associated with defects in angle of anterior chamber and glaucoma , but the findings were not present in our cases .
foveal hypoplasia that may be associated with aniridia was present in our case.2 none of the patients was mentally retarded and thorough systemic examination was normal .
our cases highlight the rare association of congenital aniridia with microcornea , aphakia and high myopia .
 aniridia is a rare congenital malformation that may be associated with various ocular and systemic manifestations . 
 we describe two cases of familial total aniridia associated with microcornea , high myopia and dislocated lens . 
 no systemic abnormality was noted in any of the cases . 