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the aim of this study is to describe the management of cataract and refractory glaucoma in a case of congenital aniridia ( an)-1 .
in an 18-year - old female patient affected by congenital an , bilateral coloboma of the zonula and lens , cataract and glaucoma , pars plana vitrectomy , cataract extraction and subsequent transcorneal ciliary body argon laser photocoagulation were performed .
five years after laser treatment , the best - corrected visual acuity was 20/50 and the intraocular pressure was stable at 18 mm hg with topical pharmacological management consisting of timolol 0.5% and latanoprost 0.005% .
from our experience , transcorneal ciliary body photocoagulation after cataract extraction and vitrectomy could be a useful technique to manage high ocular pressure in eyes affected by congenital an .
aniridia ( an ) is a haploinsufficiency of the pax6 gene ( 11p13 ) , presenting as total or partial absence of the iris .
multisystem diseases could be present , as this gene is also involved in the correct development of many systemic structures . from an ophthalmological point of view , congenital an is a complex embryologic malformation involving the iris , trabecula , cornea and lens .
increased central corneal thickness , cataracts , glaucoma , limbal stem cell deficiency , ptosis , nystagmus and foveal hypoplasia or foveal aplasia have been described [ 3 , 4 ] . the incidence of glaucoma associated with an has been reported to vary from 6 to 75% .
glaucoma associated with an typically develops during the first 2 decades of life and is attributed to progressive anterior rotation of the rudimentary iris , leading to angle closure .
it is typically resistant to medical therapy , and glaucoma management for this condition is generally surgical , but there is a lack of consensus among professionals regarding which surgical approach is best [ 4 , 5 , 6 ] .
we present the case of a patient affected by congenital an associated with cataract , lens coloboma and refractory glaucoma , who was treated with pars plana cataract extraction using vitrectomy and transcorneal argon laser photocoagulation of the ciliary body in the right eye .
the clinical condition of the left eye only required treatment with timolol 0.5% twice daily to control the intraocular pressure ( iop ) .
our patient was an 18-year - old female affected by congenital an associated with palpebral ptosis and lens coloboma with an existing cataract ( fig .
the absence of a macular reflex ( foveal hypoplasia ) with yellowish deposits in the retinal periphery was also observed . since the age of 5 ,
the patient had been treated with timolol 0.05% to control the iop of both eyes .
the iop , determined by goldmann tonometry , was 33 mm hg od and 23 mm hg os , and corneal central thickness was 674 m od and 637 m os ( orbscan ii ; bausch & lomb , rochester , n.y .
the patient underwent pars plana cataract extraction , with both lens and capsule removed , and anterior 20 g vitrectomy without intraocular lens ( iol ) implantation in the right eye .
after surgery , the iop was well controlled by timolol 0.5% . however , 20 days later , the iop began to exceed 26 mm hg , although it was not appreciable at the slit lamp evaluation .
forty - five days after surgery , the iop continued to increase , reaching values up to 35 mm hg .
these iop values were constant , although maximal ocular hypotensive therapy was added ( brimonidine tartrate 0.2% , dorzolamide hydrochloride 2% drops and 250 mg acetazolamide tablets , twice daily ) .
the procedure was performed with a solid - state 532-nm laser ( lumenis novus spectra ) .
the inferior temporal quadrant was treated first ( 80 spots , diameter 100 m , 250 mw , 0.3 s ) , and after 1 month , the inferior nasal quadrant was treated ( 103 spots , diameter 100 m , 250 mw , 0.3 s ) .
the power of the laser was regulated to obtain whitening at the head of the ciliary processes .
one day after laser treatment , the iop was 8 mm hg . during the successive months , it slowly increased , and 6 months after surgery , it was 28 mm hg without medical therapy .
one and 6 months after initiation of the therapy , the iop was stable at 18 mm hg .
moreover , after the first month , at biomicroscopy , the ocular surface evaluation performed with dye tests ( lissamine and fluorescein ) did not show a significant change from the preoperative results . in our case
, pars plana cataract extraction did not cause peripheral retinal tears , although the eye of the patient was affected by high myopia ( 10 diopters ) and no acute ocular inflammation was found .
after 2 , 4 and 5 years , the iop was still stable at 18 mm hg with topical timolol 0.5% and latanoprost 0.005% , and the best - corrected visual acuity scores were 20/63 , 20/50 and 20/50 , respectively .
congenital an is a rare pan - ocular disorder , characterized by partial or total absence of the iris and associated with cataracts , glaucoma , limbal stem cell deficiency and foveal hypoplasia or aplasia . in the aforementioned case ,
the patient underwent pars plana cataract extraction without iol implantation . surgical glaucoma management in congenital
filtering or drainage implant , goniosurgery or cyclodestructive procedures can be effective but are controversial .
the choice to perform pars plana cataract extraction without iol implantation was made because the classical sclerocorneal approach , which is routine in cosmetic iol implantation , could have further damaged the limbal stem cells and produced a permanent deficiency thereof . moreover , according to lee et al .
, congenital an is a profibrotic disease , which could have negative implications for wound healing after surgery .
the choice to avoid iol implantation was further justified by a better exploration of the retinal periphery and ciliary body ( fig .
1d ) as well as the presence of high myopia ( 10 diopters ) in the patient 's eye . a cosmetic iol implant , in fact ,
would not have allowed us to treat the ciliary body with transcorneal photocoagulation , and traditional , surgical glaucoma procedures , such as trabeculectomy or implantation of a drainage device , would probably have led to failure , as has been described in the literature [ 9 , 10 ] . in conclusion , pars plana cataract extraction using vitrectomy , associated with transcorneal argon laser photocoagulation of the ciliary body , could be an alternative and valid way to treat cataract and refractory glaucoma in eyes affected by congenital an .
however , it is necessary to study and document a large number of cases to better understand this and similar pathological conditions as well as their ideal treatment .
purposethe aim of this study is to describe the management of cataract and refractory glaucoma in a case of congenital aniridia ( an)-1.methodsin an 18-year - old female patient affected by congenital an , bilateral coloboma of the zonula and lens , cataract and glaucoma , pars plana vitrectomy , cataract extraction and subsequent transcorneal ciliary body argon laser photocoagulation were performed.resultsfive years after laser treatment , the best - corrected visual acuity was 20/50 and the intraocular pressure was stable at 18 mm hg with topical pharmacological management consisting of timolol 0.5% and latanoprost 0.005%.conclusionsfrom our experience , transcorneal ciliary body photocoagulation after cataract extraction and vitrectomy could be a useful technique to manage high ocular pressure in eyes affected by congenital an .