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 .