Journal of Pediatric Ophthalmology & Strabismus • Vol. xx, No. x, 20XX 1 INTRODUCTION Congenital aniridia is a rare, panophthalmic disorder affecting the iris, cornea, anterior chamber angle, lens, retina, and optic nerve. Three variants are described in the literature: autosomal domi- nant, autosomal recessive, and sporadic. Aniridia may occur either as an isolated ocular abnormality without systemic involvement, caused by mutation of PAX6 or deletion of a regulatory region control- ling its expression, or as part of the Wilm’s tumor- aniridia-genital anomalies-retardation (WAGR) syndrome, with a deletion of 11p13 involving the PAX6 (aniridia) locus and adjacent WT1(Wilm’s tumor) locus. 1-3 Purpose: To study the various clinical manifestations as- sociated with congenital aniridia in an Indian population. Methods: In this retrospective, consecutive, observa- tional case series, all patients with the diagnosis of con- genital aniridia seen at the institute from January 2005 to December 2010 were reviewed. In all patients, the demographic profile, visual acuity, and associated sys- temic and ocular manifestations were studied. Results: The study included 262 eyes of 131 patients with congenital aniridia. Median patient age at the time of initial visit was 8 years (range: 1 day to 73 years). Most cases were sporadic and none of the patients had par- ents afflicted with aniridia. The most common anterior segment abnormality identified was lenticular changes. Cataract was the predominant lens finding, observed in 93 of 231 (40.3%) phakic eyes. Other lens abnormalities were subluxation, coloboma, posterior lenticonus, and microspherophakia. Corneal involvement of varying degrees was seen in 157 of 262 (59.9%) eyes, glaucoma was identified in 95 of 262 (36.3%) eyes, and foveal hy- poplasia could be assessed in 230 of 262 (87.7%) eyes. Median age when glaucoma and cataract were noted was 7 and 14 years, respectively. None of the patients had Wilm’s tumor. Conclusions: Congenital aniridia was commonly as- sociated with classically described ocular features. However, systemic associations were characteristically absent in this population. Notably, cataract and glau- coma were seen at an early age. This warrants a careful evaluation and periodic follow-up in these patients for timely identification and appropriate management. [J Pediatr Ophthalmol Strabismus 20XX;XX:XX-XX.] ABSTRACT Clinical Manifestations of Congenital Aniridia Bhupesh Singh, MD; Ashik Mohamed, MBBS, M Tech; Sunita Chaurasia, MD; Muralidhar Ramappa, MD; Anil Kumar Mandal, MD; Subhadra Jalali, MD; Virender S. Sangwan, MD From Cornea and Anterior Segment Services (BS, SC, MR, VSS), Prof. Brien Holden Research Centre (AM), Anil Kumar Mandal, MD, is from VST Glaucoma Services (AKM), and Smt Kannuri Santhamma Centre for Vitreo-retinal Diseases (SJ), L. V. Prasad Eye Institute, Hyderabad, India. Submitted: April 7, 2013; Accepted: October 10, 2013; Posted online: January 3, 2014 The authors have no financial or proprietary interest in the materials presented herein. Correspondence: Sunita Chaurasia, MD, Cornea and Anterior Segment Services, L. V. Prasad Eye Institute, Kallam Anji Reddy Campus, L. V. Prasad Marg, Banjara Hills, Hyderabad -500 034, India. E-mail: [email protected] doi: 10.3928/01913913-20131223-01
Clinical Manifestations of Congenital Aniridia
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Journal of Pediatric Ophthalmology & Strabismus • Vol. xx, No. x, 20XX 1
INTRODUCTION Congenital aniridia is a rare, panophthalmic
disorder affecting the iris, cornea, anterior chamber angle, lens, retina, and optic nerve. Three variants are described in the literature: autosomal domi- nant, autosomal recessive, and sporadic. Aniridia may occur either as an isolated ocular abnormality
without systemic involvement, caused by mutation of PAX6 or deletion of a regulatory region control- ling its expression, or as part of the Wilm’s tumor- aniridia-genital anomalies-retardation (WAGR) syndrome, with a deletion of 11p13 involving the PAX6 (aniridia) locus and adjacent WT1(Wilm’s tumor) locus.1-3
Purpose: To study the various clinical manifestations as- sociated with congenital aniridia in an Indian population.
Methods: In this retrospective, consecutive, observa- tional case series, all patients with the diagnosis of con- genital aniridia seen at the institute from January 2005 to December 2010 were reviewed. In all patients, the demographic profile, visual acuity, and associated sys- temic and ocular manifestations were studied.
Results: The study included 262 eyes of 131 patients with congenital aniridia. Median patient age at the time of initial visit was 8 years (range: 1 day to 73 years). Most cases were sporadic and none of the patients had par- ents afflicted with aniridia. The most common anterior segment abnormality identified was lenticular changes. Cataract was the predominant lens finding, observed in 93 of 231 (40.3%) phakic eyes. Other lens abnormalities
were subluxation, coloboma, posterior lenticonus, and microspherophakia. Corneal involvement of varying degrees was seen in 157 of 262 (59.9%) eyes, glaucoma was identified in 95 of 262 (36.3%) eyes, and foveal hy- poplasia could be assessed in 230 of 262 (87.7%) eyes. Median age when glaucoma and cataract were noted was 7 and 14 years, respectively. None of the patients had Wilm’s tumor.
Conclusions: Congenital aniridia was commonly as- sociated with classically described ocular features. However, systemic associations were characteristically absent in this population. Notably, cataract and glau- coma were seen at an early age. This warrants a careful evaluation and periodic follow-up in these patients for timely identification and appropriate management.
[J Pediatr Ophthalmol Strabismus 20XX;XX:XX-XX.]
ABSTRACT
Clinical Manifestations of Congenital Aniridia
Bhupesh Singh, MD; Ashik Mohamed, MBBS, M Tech; Sunita Chaurasia, MD; Muralidhar Ramappa, MD; Anil Kumar Mandal, MD; Subhadra Jalali, MD; Virender S. Sangwan, MD
From Cornea and Anterior Segment Services (BS, SC, MR, VSS), Prof. Brien Holden Research Centre (AM), Anil Kumar Mandal, MD, is from VST Glaucoma Services (AKM), and Smt Kannuri Santhamma Centre for Vitreo-retinal Diseases (SJ), L. V. Prasad Eye Institute, Hyderabad, India.
Submitted: April 7, 2013; Accepted: October 10, 2013; Posted online: January 3, 2014 The authors have no financial or proprietary interest in the materials presented herein. Correspondence: Sunita Chaurasia, MD, Cornea and Anterior Segment Services, L. V. Prasad Eye Institute, Kallam Anji Reddy Campus, L. V. Prasad
Marg, Banjara Hills, Hyderabad -500 034, India. E-mail: [email protected] doi: 10.3928/01913913-20131223-01
2 Copyright © SLACK Incorporated
Visual acuity may be affected due to various associated ocular abnormalities. The classic ocular manifestations in congenital aniridia include kera- topathy, glaucoma, cataract, lens subluxation, and foveal hypoplasia.4 The purpose of this study was to investigate the various ocular and systemic features associated with congenital aniridia in Indian eyes.
PATIENTS AND METHODS The case records of patients identified with con-
genital aniridia at our institution from November 2005 to October 2010 were reviewed. Two hundred sixty-two eyes of 131 patients were included and the charts were analyzed for the demographic profile, visual acuity, ocular features, systemic associations, and surgical interventions. Clinical examination included a thorough evaluation of the anterior and posterior segment, intraocular pressure assessment using Goldmann’s/Perkin’s applanation tonometry, general examination, and ultrasound of the abdo- men to rule out Wilm’s tumor.
Statistical analysis was done using Origin 7.0 (OriginLab Corporation, Northampton, MA) and STATA 11.0 (StataCorp, College Station, TX). Sha- piro–Wilk test was used to check for normality of distribution of continuous variables. Continuous parametric data were reported as mean ± standard deviation and continuous nonparametric data were
reported as median with interquartile range (IQR). Comparison of the two independent groups was per- formed using the independent t test (for parametric data) and Mann–Whitney U test (for non-paramet- ric data). The chi-square test was used for univariate analysis of categorical variables. A P value of less than .05 was considered statistically significant.
RESULTS Demographic Data
Table 1 illustrates the demographic data. Median age at the time of first visit to the hospital was 8 years (IQR: 8 months to 18 years; range: 1 day to 73 years). Fifteen patients (11.5%) were younger than 1 month. Sixty-seven were male (51.2%) and 64 (48.8%) were female. Of the 131 patients, 127 (96.9%) had bilat- eral aniridia and 1 had unilateral aniridia (the other eye being normal). In 3 patients, the fellow eye was phthisical at the time of presentation. Nine patients had a positive familial history of aniridia, with one or more affected siblings. However, none of the parents of these patients were noted to have aniridia. There was no systemic disorder except for cyanotic heart disease in one patient. Ultrasound of the abdomen revealed a normal study in all patients.
Visual Acuity The median visual acuity at presentation was
1.00 logMAR unit (IQR: 0.78 to 1.40; range: 0.10 to 2.10). Visual acuity was hand motions in 56 eyes of 28 patients, light perception with accurate pro- jection of light in 21 eyes, and no light perception in 8 eyes. Seventy-six (55.8%) patients had horizontal, jerk nystagmus.
Ophthalmic Manifestations Table 2 describes the ocular and extraocular
features in congenital aniridia. Corneal involvement was observed in 157 of 262 (59.9%) eyes. Corneal haze and vascularization of variable extent was seen in 119 eyes, of which 29 (11.0%) eyes had clinical features suggestive of complete limbal stem cell de- ficiency, characterized by 3,600 vascularization with conjunctivalization. Twenty-four eyes had megalo- cornea (corneal diameter > 12 mm) as a result of buphthalmos secondary to congenital glaucoma. Seven eyes had microcornea and 6 eyes were mi- crophthalmic.
The lens status was phakic in 247 (94.3%) of the 262 eyes. The remaining eyes had previously
TABLE 1
Age at first visit
Range 1 day to 73 years
Gender
Extent of aniridia
Total eyes 220 (85.6%)
Partial eyes 37 (14.4%) aThree eyes were phthisical, hence evaluation was not possible.
Journal of Pediatric Ophthalmology & Strabismus • Vol. xx, No. x, 20XX 3
undergone lens surgery; 6 (2.3%) were pseudo- phakic and 9 (3.4%) were aphakic. The lens was cataractous in 95 of 247 (38.5%) phakic eyes. Lens subluxation was noted in 55 of 247 (22.3%) phakic eyes (mean age: 11.9 ± 6.7 years, range: 1 month to 31 years). Of these, 46 eyes had superior sublux- ation, 6 eyes had superotemporal subluxation, and 3 eyes had anterior dislocation of lens. Other associ- ated lens features were microspherophakia in 6 eyes, lens coloboma in 6 eyes, and posterior lenticonus in
2 eyes. In 8 eyes, lens status could not be assessed because there was dense corneal scar. In these cases, presence of the lens was confirmed by B-scan ultra- sound. In 2 eyes, the lens was absorbed.
Foveal hypoplasia was the most common pos- terior segment finding, which could be assessed in 230 (87.7%) eyes. Vitreous opacities were seen in 15 (16.1%) eyes. Optic disc was pale in 13 eyes and hypoplastic in 7 eyes. Three eyes had a retinal de- tachment.
Glaucoma was identified in 95 of 262 (36.3%) eyes. The median age at which glaucoma was doc- umented in this population was 7 years (IQR: 23 days to 16 years; range: 1 day to 38 years). Twelve patients were exotropic, 3 had unilateral congenital nasolacrimal duct obstruction, and 4 had unilateral or bilateral congenital ptosis.
The median age when cataract was noted was 14 years (IQR: 7 to 23 years; range: 1.5 months to 54 years). The patients with concomitant glau- coma presented earlier than those without glaucoma (non-glaucoma median: 10 years; IQR: 1 to 18 years; range: 8 days to 73 years; P = .008). There was no gender preponderance in the presence of glaucoma (P = .89) and cataract (P = .21) in patients with congenital aniridia. However, males (32.0%) had a higher proportion of associated subluxation (P = .001) compared to females (13.9%) (Figure 1).
DISCUSSION The prevalence of aniridia is 1:40,000 to
1:100,000. Isolated aniridia is inherited in an auto- somal dominant manner with almost complete pen- etrance and variable expressivities in two-thirds of
TABLE 2
Cornea
Retinal detachment 3 (1.1%) CNLDO = congenital nasolacrimal duct obstruction
Figure 1. Box-whisker plot showing the age distribution of con- genital aniridic eyes with and without glaucoma.
4 Copyright © SLACK Incorporated
cases; one-third of the cases are sporadic.4-6 In con- trast to existing reports, the pattern of inheritance was sporadic in the majority (93.3%) of patients in our population. No gender preponderance was ob- served in our population (male:female ratio = 1:1) and none of the patients had the classic systemic as- sociations reported with congenital aniridia.
Iris hypoplasia in congenital aniridia may be total or partial. The majority of patients (85.6%) in our study had total/complete aniridia. The com- mon ocular abnormalities associated with aniridia that affect vision are cataract, glaucoma, corneal opacification and vascularization, and foveal hypo- plasia. Corneal involvement often leads to decreased visual acuity because of aniridic keratopathy, which is due to ingrowths of blood vessels at the limbus and begins during the first decade of life.7 In this series, 44.4% had varying degrees of corneal opacifi- cation associated with vascularization. Lens changes were the most commonly associated anterior seg- ment abnormality in this study, with cataract being the most common (38.5%) lens finding, followed by subluxation, microspherophakia, lens coloboma, and posterior lenticonus. The median age at which cataract was noted was 14 years, which shows that these eyes may have a predisposition for accelerated cataractogenesis. A major factor limiting vision in patients with aniridia is foveal hypoplasia, which
was noted in 87.7% of the eyes. The incidence of glaucoma in cases of congenital aniridia has been reported to range from 6% to 75%. In our series, 36.3% of eyes had glaucomatous disc changes. Oth- er ocular abnormalities noted were microcornea or megalocornea, hypoplastic disc, disc pallor, retinal detachment, ptosis, strabismus, and congenital na- solacrimal duct obstruction.
Congenital aniridia can be associated with mul- tiple ocular abnormalities. Cataract and glaucoma can develop at an early age. Emphasis is laid on regular and careful ocular examinations to identify these abnormalities for a timely and appropriate management of these patients.
REFERENCES 1. Kokotas H, Petersen MB. Clinical and molecular aspects of an-
iridia. Clin Genet. 2010;77:409-420. 2. Gupta SK, De Becker I, Tremblay F, Guernsey DL, Neumann PE.
Genotype/phenotype correlations in aniridia. Am J Ophthalmol. 1998;126:203-210.
3. Neethirajan G, Solomon A, Krishnadas SR, Vijayalakshmi P, Sun- daresan P. Genotype/phenotype association in Indian congenital aniridia. Indian J Pediatr. 2009;76:513-517.
4. Nelson LB, Spaeth GL, Nowinski TS, Margo CE, Jackson L. An- iridia: a review. Surv Ophthalmol. 1984;28:621-642.
5. Shaw MW, Falls HF, Neel JV. Congenital aniridia. Am J Hum Genet. 1960;12:389-415.
6. Fischbach BV, Trout KL, Lewis J, Luis CA, Sika M. WAGR syn- drome: a clinical review of 54 cases. Pediatrics. 2005;116:984- 988.
INTRODUCTION Congenital aniridia is a rare, panophthalmic
disorder affecting the iris, cornea, anterior chamber angle, lens, retina, and optic nerve. Three variants are described in the literature: autosomal domi- nant, autosomal recessive, and sporadic. Aniridia may occur either as an isolated ocular abnormality
without systemic involvement, caused by mutation of PAX6 or deletion of a regulatory region control- ling its expression, or as part of the Wilm’s tumor- aniridia-genital anomalies-retardation (WAGR) syndrome, with a deletion of 11p13 involving the PAX6 (aniridia) locus and adjacent WT1(Wilm’s tumor) locus.1-3
Purpose: To study the various clinical manifestations as- sociated with congenital aniridia in an Indian population.
Methods: In this retrospective, consecutive, observa- tional case series, all patients with the diagnosis of con- genital aniridia seen at the institute from January 2005 to December 2010 were reviewed. In all patients, the demographic profile, visual acuity, and associated sys- temic and ocular manifestations were studied.
Results: The study included 262 eyes of 131 patients with congenital aniridia. Median patient age at the time of initial visit was 8 years (range: 1 day to 73 years). Most cases were sporadic and none of the patients had par- ents afflicted with aniridia. The most common anterior segment abnormality identified was lenticular changes. Cataract was the predominant lens finding, observed in 93 of 231 (40.3%) phakic eyes. Other lens abnormalities
were subluxation, coloboma, posterior lenticonus, and microspherophakia. Corneal involvement of varying degrees was seen in 157 of 262 (59.9%) eyes, glaucoma was identified in 95 of 262 (36.3%) eyes, and foveal hy- poplasia could be assessed in 230 of 262 (87.7%) eyes. Median age when glaucoma and cataract were noted was 7 and 14 years, respectively. None of the patients had Wilm’s tumor.
Conclusions: Congenital aniridia was commonly as- sociated with classically described ocular features. However, systemic associations were characteristically absent in this population. Notably, cataract and glau- coma were seen at an early age. This warrants a careful evaluation and periodic follow-up in these patients for timely identification and appropriate management.
[J Pediatr Ophthalmol Strabismus 20XX;XX:XX-XX.]
ABSTRACT
Clinical Manifestations of Congenital Aniridia
Bhupesh Singh, MD; Ashik Mohamed, MBBS, M Tech; Sunita Chaurasia, MD; Muralidhar Ramappa, MD; Anil Kumar Mandal, MD; Subhadra Jalali, MD; Virender S. Sangwan, MD
From Cornea and Anterior Segment Services (BS, SC, MR, VSS), Prof. Brien Holden Research Centre (AM), Anil Kumar Mandal, MD, is from VST Glaucoma Services (AKM), and Smt Kannuri Santhamma Centre for Vitreo-retinal Diseases (SJ), L. V. Prasad Eye Institute, Hyderabad, India.
Submitted: April 7, 2013; Accepted: October 10, 2013; Posted online: January 3, 2014 The authors have no financial or proprietary interest in the materials presented herein. Correspondence: Sunita Chaurasia, MD, Cornea and Anterior Segment Services, L. V. Prasad Eye Institute, Kallam Anji Reddy Campus, L. V. Prasad
Marg, Banjara Hills, Hyderabad -500 034, India. E-mail: [email protected] doi: 10.3928/01913913-20131223-01
2 Copyright © SLACK Incorporated
Visual acuity may be affected due to various associated ocular abnormalities. The classic ocular manifestations in congenital aniridia include kera- topathy, glaucoma, cataract, lens subluxation, and foveal hypoplasia.4 The purpose of this study was to investigate the various ocular and systemic features associated with congenital aniridia in Indian eyes.
PATIENTS AND METHODS The case records of patients identified with con-
genital aniridia at our institution from November 2005 to October 2010 were reviewed. Two hundred sixty-two eyes of 131 patients were included and the charts were analyzed for the demographic profile, visual acuity, ocular features, systemic associations, and surgical interventions. Clinical examination included a thorough evaluation of the anterior and posterior segment, intraocular pressure assessment using Goldmann’s/Perkin’s applanation tonometry, general examination, and ultrasound of the abdo- men to rule out Wilm’s tumor.
Statistical analysis was done using Origin 7.0 (OriginLab Corporation, Northampton, MA) and STATA 11.0 (StataCorp, College Station, TX). Sha- piro–Wilk test was used to check for normality of distribution of continuous variables. Continuous parametric data were reported as mean ± standard deviation and continuous nonparametric data were
reported as median with interquartile range (IQR). Comparison of the two independent groups was per- formed using the independent t test (for parametric data) and Mann–Whitney U test (for non-paramet- ric data). The chi-square test was used for univariate analysis of categorical variables. A P value of less than .05 was considered statistically significant.
RESULTS Demographic Data
Table 1 illustrates the demographic data. Median age at the time of first visit to the hospital was 8 years (IQR: 8 months to 18 years; range: 1 day to 73 years). Fifteen patients (11.5%) were younger than 1 month. Sixty-seven were male (51.2%) and 64 (48.8%) were female. Of the 131 patients, 127 (96.9%) had bilat- eral aniridia and 1 had unilateral aniridia (the other eye being normal). In 3 patients, the fellow eye was phthisical at the time of presentation. Nine patients had a positive familial history of aniridia, with one or more affected siblings. However, none of the parents of these patients were noted to have aniridia. There was no systemic disorder except for cyanotic heart disease in one patient. Ultrasound of the abdomen revealed a normal study in all patients.
Visual Acuity The median visual acuity at presentation was
1.00 logMAR unit (IQR: 0.78 to 1.40; range: 0.10 to 2.10). Visual acuity was hand motions in 56 eyes of 28 patients, light perception with accurate pro- jection of light in 21 eyes, and no light perception in 8 eyes. Seventy-six (55.8%) patients had horizontal, jerk nystagmus.
Ophthalmic Manifestations Table 2 describes the ocular and extraocular
features in congenital aniridia. Corneal involvement was observed in 157 of 262 (59.9%) eyes. Corneal haze and vascularization of variable extent was seen in 119 eyes, of which 29 (11.0%) eyes had clinical features suggestive of complete limbal stem cell de- ficiency, characterized by 3,600 vascularization with conjunctivalization. Twenty-four eyes had megalo- cornea (corneal diameter > 12 mm) as a result of buphthalmos secondary to congenital glaucoma. Seven eyes had microcornea and 6 eyes were mi- crophthalmic.
The lens status was phakic in 247 (94.3%) of the 262 eyes. The remaining eyes had previously
TABLE 1
Age at first visit
Range 1 day to 73 years
Gender
Extent of aniridia
Total eyes 220 (85.6%)
Partial eyes 37 (14.4%) aThree eyes were phthisical, hence evaluation was not possible.
Journal of Pediatric Ophthalmology & Strabismus • Vol. xx, No. x, 20XX 3
undergone lens surgery; 6 (2.3%) were pseudo- phakic and 9 (3.4%) were aphakic. The lens was cataractous in 95 of 247 (38.5%) phakic eyes. Lens subluxation was noted in 55 of 247 (22.3%) phakic eyes (mean age: 11.9 ± 6.7 years, range: 1 month to 31 years). Of these, 46 eyes had superior sublux- ation, 6 eyes had superotemporal subluxation, and 3 eyes had anterior dislocation of lens. Other associ- ated lens features were microspherophakia in 6 eyes, lens coloboma in 6 eyes, and posterior lenticonus in
2 eyes. In 8 eyes, lens status could not be assessed because there was dense corneal scar. In these cases, presence of the lens was confirmed by B-scan ultra- sound. In 2 eyes, the lens was absorbed.
Foveal hypoplasia was the most common pos- terior segment finding, which could be assessed in 230 (87.7%) eyes. Vitreous opacities were seen in 15 (16.1%) eyes. Optic disc was pale in 13 eyes and hypoplastic in 7 eyes. Three eyes had a retinal de- tachment.
Glaucoma was identified in 95 of 262 (36.3%) eyes. The median age at which glaucoma was doc- umented in this population was 7 years (IQR: 23 days to 16 years; range: 1 day to 38 years). Twelve patients were exotropic, 3 had unilateral congenital nasolacrimal duct obstruction, and 4 had unilateral or bilateral congenital ptosis.
The median age when cataract was noted was 14 years (IQR: 7 to 23 years; range: 1.5 months to 54 years). The patients with concomitant glau- coma presented earlier than those without glaucoma (non-glaucoma median: 10 years; IQR: 1 to 18 years; range: 8 days to 73 years; P = .008). There was no gender preponderance in the presence of glaucoma (P = .89) and cataract (P = .21) in patients with congenital aniridia. However, males (32.0%) had a higher proportion of associated subluxation (P = .001) compared to females (13.9%) (Figure 1).
DISCUSSION The prevalence of aniridia is 1:40,000 to
1:100,000. Isolated aniridia is inherited in an auto- somal dominant manner with almost complete pen- etrance and variable expressivities in two-thirds of
TABLE 2
Cornea
Retinal detachment 3 (1.1%) CNLDO = congenital nasolacrimal duct obstruction
Figure 1. Box-whisker plot showing the age distribution of con- genital aniridic eyes with and without glaucoma.
4 Copyright © SLACK Incorporated
cases; one-third of the cases are sporadic.4-6 In con- trast to existing reports, the pattern of inheritance was sporadic in the majority (93.3%) of patients in our population. No gender preponderance was ob- served in our population (male:female ratio = 1:1) and none of the patients had the classic systemic as- sociations reported with congenital aniridia.
Iris hypoplasia in congenital aniridia may be total or partial. The majority of patients (85.6%) in our study had total/complete aniridia. The com- mon ocular abnormalities associated with aniridia that affect vision are cataract, glaucoma, corneal opacification and vascularization, and foveal hypo- plasia. Corneal involvement often leads to decreased visual acuity because of aniridic keratopathy, which is due to ingrowths of blood vessels at the limbus and begins during the first decade of life.7 In this series, 44.4% had varying degrees of corneal opacifi- cation associated with vascularization. Lens changes were the most commonly associated anterior seg- ment abnormality in this study, with cataract being the most common (38.5%) lens finding, followed by subluxation, microspherophakia, lens coloboma, and posterior lenticonus. The median age at which cataract was noted was 14 years, which shows that these eyes may have a predisposition for accelerated cataractogenesis. A major factor limiting vision in patients with aniridia is foveal hypoplasia, which
was noted in 87.7% of the eyes. The incidence of glaucoma in cases of congenital aniridia has been reported to range from 6% to 75%. In our series, 36.3% of eyes had glaucomatous disc changes. Oth- er ocular abnormalities noted were microcornea or megalocornea, hypoplastic disc, disc pallor, retinal detachment, ptosis, strabismus, and congenital na- solacrimal duct obstruction.
Congenital aniridia can be associated with mul- tiple ocular abnormalities. Cataract and glaucoma can develop at an early age. Emphasis is laid on regular and careful ocular examinations to identify these abnormalities for a timely and appropriate management of these patients.
REFERENCES 1. Kokotas H, Petersen MB. Clinical and molecular aspects of an-
iridia. Clin Genet. 2010;77:409-420. 2. Gupta SK, De Becker I, Tremblay F, Guernsey DL, Neumann PE.
Genotype/phenotype correlations in aniridia. Am J Ophthalmol. 1998;126:203-210.
3. Neethirajan G, Solomon A, Krishnadas SR, Vijayalakshmi P, Sun- daresan P. Genotype/phenotype association in Indian congenital aniridia. Indian J Pediatr. 2009;76:513-517.
4. Nelson LB, Spaeth GL, Nowinski TS, Margo CE, Jackson L. An- iridia: a review. Surv Ophthalmol. 1984;28:621-642.
5. Shaw MW, Falls HF, Neel JV. Congenital aniridia. Am J Hum Genet. 1960;12:389-415.
6. Fischbach BV, Trout KL, Lewis J, Luis CA, Sika M. WAGR syn- drome: a clinical review of 54 cases. Pediatrics. 2005;116:984- 988.
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