TY - JOUR
T1 - Clinical and molecular aspects of congenital aniridia - A review of current concepts
AU - Tibrewal, Shailja
AU - Ratna, Ria
AU - Gour, Abha
AU - Agarkar, Sumita
AU - Dubey, Suneeta
AU - Ganesh, Suma
AU - Kekunnaya, Ramesh
AU - Sangwan, Virender
AU - Liu, Yutao
AU - Vanita, Vanita
N1 - Publisher Copyright:
© 2022 Indian Journal of Ophthalmology.
PY - 2022/7
Y1 - 2022/7
N2 - Congenital aniridia is a pan ocular disorder characterized by partial or total loss of iris tissue as the defining feature. Classic aniridia, however, has a spectrum of ocular findings, including foveal hypoplasia, optic nerve hypoplasia, nystagmus, late-onset cataract, glaucoma, and keratopathy. The latter three are reasons for further visual compromise in such patients. This entity is often due to mutations in the PAX6 (Paired box protein Pax-6) gene. Recently, aniridia-like phenotypes have been reported due to non-PAX6 mutations as in PITX2, FOXC1, FOXD3, TRIM44, and CYP1B1 as well wherein there is an overlap of aniridia, such as iris defects with congenital glaucoma or anterior segment dysgenesis. In this review, we describe the various clinical features of classic aniridia, the comorbidities and their management, the mutation spectrum of the genes involved, genotype-phenotype correlation of PAX6 and non-PAX6 mutations, and the genetic testing plan. The various systemic associations and their implications in screening and genetic testing have been discussed. Finally, the future course of aniridia treatment in the form of drugs (such as ataluren) and targeted gene therapy has been discussed.
AB - Congenital aniridia is a pan ocular disorder characterized by partial or total loss of iris tissue as the defining feature. Classic aniridia, however, has a spectrum of ocular findings, including foveal hypoplasia, optic nerve hypoplasia, nystagmus, late-onset cataract, glaucoma, and keratopathy. The latter three are reasons for further visual compromise in such patients. This entity is often due to mutations in the PAX6 (Paired box protein Pax-6) gene. Recently, aniridia-like phenotypes have been reported due to non-PAX6 mutations as in PITX2, FOXC1, FOXD3, TRIM44, and CYP1B1 as well wherein there is an overlap of aniridia, such as iris defects with congenital glaucoma or anterior segment dysgenesis. In this review, we describe the various clinical features of classic aniridia, the comorbidities and their management, the mutation spectrum of the genes involved, genotype-phenotype correlation of PAX6 and non-PAX6 mutations, and the genetic testing plan. The various systemic associations and their implications in screening and genetic testing have been discussed. Finally, the future course of aniridia treatment in the form of drugs (such as ataluren) and targeted gene therapy has been discussed.
KW - Aniridia
KW - PAX6
KW - genetics
KW - genotype
KW - mutation
KW - phenotype
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U2 - 10.4103/ijo.IJO_2255_21
DO - 10.4103/ijo.IJO_2255_21
M3 - Review article
C2 - 35791108
AN - SCOPUS:85134008081
SN - 0301-4738
VL - 70
SP - 2280
EP - 2292
JO - Indian Journal of Ophthalmology
JF - Indian Journal of Ophthalmology
IS - 7
ER -