Surgical Treatment Options in Congenital Aniridia –
Cataracts, Glaucomas, Corneal Opacities
Berthold Seitz
UniversitUniversitäätsklinikum des Saarlandes tsklinikum des Saarlandes UKSUKSKlinik fKlinik füür Augenheilkunde, Homburg/Saarr Augenheilkunde, Homburg/Saar
Direktor: Prof. Dr. med. Berthold Seitz, ML, FEBODirektor: Prof. Dr. med. Berthold Seitz, ML, FEBO
Unsere Augen – das Tor zur Welt
UniversitUniversitäätsklinikum des Saarlandes tsklinikum des Saarlandes UKSUKSKlinik fKlinik füür Augenheilkunde, Homburg/Saarr Augenheilkunde, Homburg/Saar
Direktor: Prof. Dr. med. Berthold Seitz, ML, FEBODirektor: Prof. Dr. med. Berthold Seitz, ML, FEBO
Surgical Treatment Options in Aniridia
Surgical Treatment Options in Aniridia
Surgical Treatment Options in Aniridia
� Incidence: 1:64.000 – 1:96.000
� Decreased acitivity of PAX6 geneon chromosome 11p13
� 2/3 autosomal dominant inherited
� Wilms tumor predisposition (sporadic)
Basics in Aniridia
Surgical Treatment Options in Aniridia
� Cornea� Iris� Lens � Chamber Angle (Glaucoma)
� Fovea� Papilla
Defective Ocular Tissues in Aniridia
>> Low Vision>> Nystagmus
Anatomy of the Eye
Surgical Treatment Options in Aniridia
Reversible Blindness vs. Irreversible Blindness(Cornea, Lens , Vitreous) (Optic Nerve , Retina, Brain)
CataractCorneal Opacities
Glaucoma
Surgical Treatment Options in Aniridia
Surgical Treatment Options in Aniridia
There are no straight-forwardgenerally accepted
treatment modalities !!
Aniridia is an Orphan Disease
Typical Patient‘s Records
Surgical Treatment Options in Aniridia
Typical Patient‘s Course of Disease - PF
Surgical Treatment Options in Aniridia
15.11.2001: Date of birth04.04.2003: Date of first presentation - VA OD/OS 0.05-0.1
- congenital total aniridia- macula hypoplasia- nystagmus- hyperopia astigmatism- aniridia associated glaucoma
07.11.2007: OD/OS CPK07.01.2009: OD/OS CPK03.03.2010: OD/OS CPK30.03.2010: OD Phaco + Morcher black iris diaphragm IOL27.07.2010: OD ppVy with removal of fibrous membrane, hyopotony25.04.2013: last visit - VA OD LP, OS0.1
Typical Patient‘s Course of Disease - SW
Surgical Treatment Options in Aniridia
03.11.1986: Date of birth10.03.1987: Date of first presentation
- congenital partial aniridia- macula hypoplasia- nystagmus
14.06.1993: Incipient subcapsular cataract21.11.1996: OD Phaco + Morcher black iris diaphragm IOL28.11.1996: OS Phaco + Morcher black iris diaphragm IOL20.02.1997: OD ppVy with removal secondary cataract08.05.2001: OS Ahmed valve glaucoma surgery12.09.2001: OD Ahmed valve galucoma surgery22.08.2011: OS CPK25/26.10.2012: OD/OS CPK12.03.13: last visit: VA OD/OS 1/50 LT in 1 m
Major Treatment Problems
Glaucomas ~ 50%Late childhood
Brunner SC, Walton DS, Chen TC: Aniridia. Int Ophthalmol Clinics 2008; 48 (2): 79-85
Surgical Treatment Options in Aniridia
� Obscuration of trabecular meshwork and limbal spur
by tissue strands containing blood vessels
� Rudimentary iris plane prallel to the axis of the eye
� Absence of Schlemm‘s canal
Pathophysiology of Aniridic Glaucomas
Surgical Treatment Options in Aniridia
Chamber Angle
Surgical Treatment Options in Aniridia
congenitalcongenital
BuphthalmusBuphthalmus
with congenital anomalies
AniridieAxenfeld-Rieger SyndromSturge-Weber Syndrom
Marfan-Syndrom
with congenital anomalies
AniridieAxenfeld-Rieger SyndromSturge-Weber Syndrom
Marfan-Syndrom
Glaucomas in Children
Ninios K, Jonescu-Cuypers CP, Seitz B: Glaukome bei primären Irisveränderungen - Axenfeld-Rieger-Syndrom, ICE-Syndrome (essenzielle Irisatrophie, Chandler-Syndrom, Cogan-Reese-Syndrom), Aniridie. Ophthalmologe 2011; 108:585-593
Surgical Treatment Options in Aniridia
Surgical Treatment Options in Aniridia
Aniridic Glaucoma
Glaucoma Diagnostics
3 Approaches3 Approaches
IOPIOPMorphology of Optic Nerve Head
Morphology of Optic Nerve Head
Visual FieldsVisual Fields
Surgical Treatment Options in Aniridia
GonioscopySurgical Treatment Options in Aniridia
IOP MeasurementApplanation tonometry
GoldmannImpression tonometry
Schiötz
Surgical Treatment Options in Aniridia
Icare tonometer
IOP Measurement
Surgical Treatment Options in Aniridia
Always measure corneal thickness !Mean: 631 ± 51 µm 1
691 ± 75 µm 2
1 Brandt JD, Casuso LA, Budenz DL: Markedly increased central corneal thickness: an unrecognized finding in congenital aniridia. Am J Ophthalmol 2004; 137:348-350
2 Whitson JT, Liang C, Godfrey DG, Petroll VM, Cavanagh HD, Patel D, Fellman RL, Starita RJ: Central corneal thickness in patients with congenital aniridia. Eye Contact Lens 2005; 31:221-224
Optic Nerve Head
Surgical Treatment Options in Aniridia
Surgical Treatment Options in Aniridia
Optic Nerve Head
Aniridic Glaucoma
Surgical Treatment Options in Aniridia
Documentation of Optic Nerve Head
Surgical Treatment Options in Aniridia
Visual Fields
Surgical Treatment Options in Aniridia
Glaucoma Early Stage
Surgical Treatment Options in Aniridia
Visual Fields
Glaucoma Late Stage
Surgical Treatment Options in Aniridia
Visual Fields
Topical Antiglaucomatous Therapy
Surgical Treatment Options in Aniridia
Surgical Treatment Options in Aniridia
Topical Antiglaucomatous Therapy
� Goniotomy
� Trabeculotomy
� Trabeculectomy with Mitomycin C
� Glaucoma drainage devices (Molteno, Baerveldt, Ahmed)
� Cyclosdestructive procedures (CPK) – not CCK!!!
� Modified goniosurgery (removal of abnormal tissue
spanning between iris rudimentary stump and trabecular
meshwork)
� Trabectome in pseudophakia or simultaneous with phaco ???
Options of Glaucoma Surgery
Surgical Treatment Options in Aniridia
Trabeculectomy with MMC
Surgical Treatment Options in Aniridia
Corneal decompensation in up to 30% of eyesTopouzis et al. Am J Ophthalmol 1999
Glaucoma Drainage Devices
Surgical Treatment Options in Aniridia
Major Treatment Problems
Iris Hypoplasia
Brunner SC, Walton DS, Chen TC: Aniridia. Int Ophthalmol Clinics 2008; 48 (2): 79-85
Surgical Treatment Options in Aniridia
Surgical Treatment Options in Aniridia
Artificial Iris ?????
Artificial Iris
Surgical Treatment Options in Aniridia
� Eye lid surgery� Iris imitating contact lens � Corneal tattooing (Alio JL, et al. Br J Ophthalmol 2011; 95:1397-1401)
� Artificial iris into the capsular bag during cataract surgery
� We do NOT advocate implantation of artificial irides into the sulcus –� often worsening of glaucoma !!� risk of „progressive anterior fibrosis syndrome“
Options for Compensation of Iris Hypoplasia
Surgical Treatment Options in Aniridia
CAVE: PANAMA - „NewColorIris“
Tsai JH, Freeman JM, Chan CC et al: A progressive anterior fibrosis syndrome in patients with postsurgical congenital aniridia. Am J Ophthalmol 2005; 140:1075-1079
George MK, Tsai JC, Loewen NA: Bilateral irreversible severe vision loss from cosmetic iris implants. Am J Ophthalmol 2011; 151:872-875
Simulation zur Implantation einer Iris-Teilprothese
Endergebnis desoperierten Auges
(Die Naht ist praktisch nicht sichtbar)
Gesundes Augemit intakter Iris
(Foto als Vorlage)
Verletztes Auge -partielle Aniridie
Fixierung derIris-Teilprothese
Surgical Treatment Options in Aniridia
Artificial Iris from Gore -Tex
Dr. Schmidt Intraocularlinsen GmbH
Instead of Artificial Iris ……
Surgical Treatment Options in Aniridia
Major Treatment Problems
Lens Abnormalities and Cataract - 50% - 85%
Surgical Treatment Options in Aniridia
Lee H, Khan R, O‘Keefe M: Aniridia: current pathology and management. Acta Ophthalmol 2008; 86:708-715
� Fragile anterior lens capsule
� Zonular weakness
� Morphological changes at the equator
The Lens in Aniridia
Surgical Treatment Options in Aniridia
HH26011999
Aufn v 08022011
Surgical Treatment Options in Aniridia
The Lens in Aniridia
Surgical Treatment Options in Aniridia
The Lens in Aniridia
Surgical Treatment Options in Aniridia
The Lens in Aniridia
Surgical Treatment Options in Aniridia
The Lens in Aniridia
Surgical Treatment Options in Aniridia
The Lens in Aniridia
Surgical Treatment Options in Aniridia
The Lens in Aniridia
Surgical Treatment Options in Aniridia
IOL Calculation
IOL CalculationSurgical Treatment Options in Aniridia
Eye length
Surgical Treatment Options in Aniridia
IOL Calculation
Corneal CurvatureCorneal Power
- 90% as out-patient- Local anesthesia (RBA/PBA/Topical)- Clear cornea incision (2.5 mm)-Bimanual phacoemulsification- Foldable IOL implantation via inserter
Surgical Treatment Options in Aniridia
> 2000 Cataract Surgeries per Year in HOM
PhacoemulsificationPhacoemulsification
Surgical Treatment Options in Aniridia
> 2000 Cataract Surgeries per Year in HOM
Standard Cataract Surgery + Implantation of Artificial Lens
Microsurgeon: B. Seitz
Surgical Treatment Options in Aniridia
� Black iris diaphragm IOL (Morcher 67F and 67G)
(sulcus fixated or sutured transsclerally)
(via 10 mm incision )
� Morcher aniridia ring type 50C:
designed for intracapsular insertion. Two of these rings
are implanted and turned against each other in order
to produce a full iris diaphragm
� Foldable blue-light-filtering IOL (via 2.5 to 3.0 mm incision)
Options of Lens Surgery
Surgical Treatment Options in Aniridia
HI 13061962Aufn v 21112011
Surgical Treatment Options in Aniridia
Black Iris Diaphragm IOL
Surgical Treatment Options in Aniridia
Black Iris Diaphragm IOL
http://www.sciencedirect.com/science/article/pii/S0181551209000722#fig4
Surgical Treatment Options in Aniridia
Black Iris Diaphragm IOL
Surgical Treatment Options in Aniridia
Iris Diaphragm IOL - Potential Complications
� Postoperative uveitis
� Seconday glaucoma
� Clinically significant macular edema
� Progression of corneal epithelial disorder
� Hyphaema
Reinhard T, Engelhardt S, Sundmacher R: Black diaphragm aniridia intraocular lens for congenital aniridia: Long-term follow-up. J Cataract Refract Surg 2000; 26:375-381
http://www.sciencedirect.com/science/article/pii/S0181551209000722#fig4
Surgical Treatment Options in Aniridia
Coloured Iris Diaphragm IOL
Surgical Treatment Options in Aniridia
Morcher Aniridia Ring Type 50C
Surgical Treatment Options in Aniridia
Morcher Aniridia Ring Type 50C + Yellow IOL
Surgical Treatment Options in Aniridia
http://www.sciencedirect.com/science/article/pii/S0181551209000722#fig4
Surgical Treatment Options in Aniridia
Morcher Aniridia Ring Type 50C
Major Treatment Problems
„Corneal Opacities“Anirida-Associated Keratopathy (AAK)
20% – 30%
Lee H, Khan R, O‘Keefe M: Aniridia: current pathology and management. Acta Ophthalmol 2008; 86:708-715
Surgical Treatment Options in Aniridia
Anirida -Associated Keratopathy (AAK)
Surgical Treatment Options in Aniridia
� Often starting in the first decade of life
� Limbal stem cell deficiency
� Conjunctivalization of the cornea
� Recurrent corneal erosions and ulcerations
� Often worse after surgery that involvesexcessive manipulation of the limbus – or
� after application of topical antimetabolites to treataniridia-associated glaucoma
Surgical Treatment Options in Aniridia
Anirida -Associated Keratopathy (AAK)
Edén U, Riise R, Tornqvist K: Corneal invcolvement in congenital anirida, Cornea 2010; 29:1096--1102
� Dark glasses against photophobia
� Preservative-free lubricants
� Hyaluronic acid containing artificial tears
� 100% autologous serum eye drops
Surgical Treatment Options in Aniridia
Conservative Treatment of AAK
Jastaneiah S & Al-Rajhi AA: Association of aniridia and dry eyes. Ophthalmology2005; 112:1535—1540
Lopez-Garcia JS, Rivas L, Garcia-Lozano I, Murube J: Autologous serum eyedrops in the treatment of aniridic keratopathy. Ophthalmology 2008; 115:262-267
Surgical Treatment Options in Aniridia
Anirida -Associated Keratopathy (AAK)
Surgical Treatment Options in Aniridia
Anirida -Associated Keratopathy (AAK)
Surgical Treatment Options in Aniridia
Anirida -Associated Keratopathy (AAK)
� Amniotic membrane transplantation(incl. enhancing survival of limbal stem cells)
� Limbal stem cell transplantation
� Triplet matching of living related donor
� Non-matched organ-cultured donor� Keratolimbal allograft
� Ex vivo expansion of stem cells on amniotic membrane
Options of Corneal Surgery
Surgical Treatment Options in Aniridia
Systemic immunosuppression necessary !!!!
� Penetrating excimer laser keratoplasty ?
� 14 mm deep lamellar corneoscleral graft
� 14 mm peripheral lamellar/central penetratingcorneoscleral graft
� Boston keratoprosthesis
Options of Corneal Surgery
Surgical Treatment Options in Aniridia
Rixen JJ et al: Treatment of aniridia with Boston Type I keratoprosthesis. Cornea 2013; Feb 26 [Epub ahead of print]
Kang JJ et al: Visual outcomes of Boston keratoprosthesis implantation as primary penetrating corneal procedure. Cornea 2012; 31:1436-1440
Bakhtiari P et al: Surgical and visual outcomes of the type I Boston keratoprosthesis for the management of aniridic fiibrosis sndrome in congenital anirida. Am J Ophthalmol 2012; 152:967-971
Deutsches Keratoplastikregister Gemeldete Hornhauttransplantationen pro Jahr
1980 - 2011
Deutsches Keratoplastikregister gemeldete Hornhauttransplantationen pro Jahr
1980-2011
789 10
45
1145
1246
1203
1262
1407
1363
1470 16
92 1920
3367
3245
4148
2430
3375
3355
3025
2391 27
24
4730
4848
4735
4840
3673
3631 40
64 4380
4257
4030 45
33
0
1000
2000
3000
4000
5000
6000
1980
1981
1982
1983
1984
1985
1986
1987
1988
1989
1990
1991
1992
1993
1994
1995
1996
1997
1998
1999
2000
2001
2002
2003
2004
2005
2006
2007
2008
2009
2010
2011
~ 35.000 pro Jahr in den U.S.A. ↓↓↓↓~ 4.500 pro Jahr in Deutschland ↓↓↓↓
~ 250 pro Jahr in Homburg/Saar ↑↑↑↑
Sektion Kornea in der DOG
Processed Corneas since Foundation of Processed Corneas since Foundation of LIONS Eye Bank in Homburg/SaarLIONS Eye Bank in Homburg/Saar
HornhautentnahmenUniversitäts-Augenklinik Homburg/Saar
154
260
185210
158 172
256
354
288
377 369
414
0
100
200
300
400
500
2000
2001
2002
2003
2004
2005
2006
2007
2008
2009
2010
2011
Kalenderjahr
Anz
ahl H
ornh
aute
ntna
hmen
Surgical Treatment Options in Aniridia
Heute:Tag der Organspende !!!
Corneal Transplantations in theCorneal Transplantations in theDepartment of Ophthalmology in Homburg/SaarDepartment of Ophthalmology in Homburg/Saar
KeratoplastikenUniversitäts-Augenklinik Homburg/Saar
13
8971
113
8071 64
52 57 62
9476
10490 85
94
65
105
171162
202208
243
0
40
80
120
160
200
240
1989
1990
1991
1992
1993
1994
1995
1996
1997
1998
1999
2000
2001
2002
2003
2004
2005
2006
2007
2008
2009
2010
2011
Kalenderjahr
Anz
ahl K
erat
opla
stik
en
Surgical Treatment Options in Aniridia
Methode der Excimerlaser -Trepanation
Photoablation
durch die Maske geschütztesHornhautgewebe
Rotierender Laserstrahlgeführt über HeNe-Laser
Empfänger-maske
Rotierender Laserstrahlgeführt über HeNe-Laser
durch die Maske geschütztesHornhautgewebe
Photoablation
Spender-maske
Spender Empfänger
Surgical Treatment Options in Aniridia
Spendermaske mit acht Erlanger/Homburger
„Orientierungszähnchen“
Empfängermaske mit acht „Orientierungskerben“
Spender trepanation unmittelbar vor der
Perforation
Orientierungszähnchen
Behrens A, Seitz B, et al:"Orientation teeth" in nonmechanical laser corneal trephination for penetrating keratopasty: 2.94 µm Er:YAG vs. 193 nm ArF excimer laser.Br J Ophthalmol 1999; 83:1008-1012
„Orientation Teeth “
Practical Advantage
for the Microsurgeon
Exact positioning of the second cardinal suture
Surgical Treatment Options in Aniridia
Excimer Laser Trephination - VIDEO
Surgical Treatment Options in Aniridia
Typical corneal grafts6 weeks after keratoplasty
Markus Klingenstein 16121985
Aufn v 050122012
Surgical Treatment Options in Aniridia
Excimer Laser Keratoplasty with Single Sutures
SF21031972
Foto 29092010
Surgical Treatment Options in Aniridia
Irreversible Graft Failure After Keratoplasty
SF21031972
Foto 22112010
Surgical Treatment Options in Aniridia
Excimer Laser Keratoplasty with Single Sutures
SF1031972
Foto 11052011
Surgical Treatment Options in Aniridia
Excimer Laser Keratoplasty with Single Sutures
SF21031972
Foto 26102011
Surgical Treatment Options in Aniridia
Excimer Laser Keratoplasty with Single Sutures
� Indispensable: Save the scleral spur !!
Spender
Surgical Treatment Options in Aniridia
Central 14 mm Corneoscleroplasty
� Systemic Immunosuppression (Cyclosporin A oder MMF)
Central 14 mm Corneoscleroplasty
Surgical Treatment Options in Aniridia
Boston Keratoprosthesis in Children
Surgical Treatment Options in Aniridia
Boston Keratoprosthesis Visual results
patno diagnosisBCVAPreop
BCVAPostop
1 chem burn LP0.5�re OK�
0.15�LP
2 chem burn HM 0.9
3 chem burn LP 0.2
4 chem burn LP 1.2--> LP� OOKP
5 Limbal stem def eci FC 0.01
6 Limbal stem def eci LP LP
7 Limbal stem def eci FC FC
8 Aniridia LP 0.15
9 Aniridia LP 0.1
10 Aniridia FC 0.15
Lies Remeijer, SOE 2007
Surgical Treatment Options in Aniridia
Boston Keratoprosthesis in Children
�Anirida is a profibrotic disorder.�Therefore, many interventions - incl. penetrating keratopalsty and filtering surgery – tend to fail.�The Boston KPro may provide a more effective approach in the management of anirida-associated keratopathy AAK.�Guarded filtration surgery appears to be effctive in glaucoma.�Small incision cataract surgery seems to have advantages over large incisions for black iris diaphragm IOLs.
Summary
Surgical Treatment Options in Aniridia
� Despite our increasing understandingof the genetics and pathophysiologyof congenital aniridia,
� effective treatment remains elusive
� with many of the conditions recurringafter surgical intervention.
�Strongly individualized approach -stay conservative
Conclusions
Surgical Treatment Options in Aniridia
Erfahrung ist nicht vererbbar –
Jeder muß seine eigenen machen.
Kurt TucholskyJournalist und Schriftsteller
1890 - 1935
Surgical Treatment Options in Aniridia
UniversitUniversitäätsklinikum des Saarlandes tsklinikum des Saarlandes UKSUKSKlinik fKlinik füür Augenheilkunde, Homburg/Saarr Augenheilkunde, Homburg/Saar
Direktor: Prof. Dr. med. Berthold Seitz, ML, FEBODirektor: Prof. Dr. med. Berthold Seitz, ML, FEBO
Unsere Augen – das Tor zur Welt
Surgical Treatment Options in Aniridia
Ophthalmologist are Organ Donors!Ophthalmologist are Organ Donors!
Thank you very much for your attention !
Augen ärzte sind Organspender !Augen ärzte sind Organspender !
[email protected]@uks.eu
Vielen Dank für Ihre Aufmerksamkeit !Vielen Dank fVielen Dank f üür Ihre Aufmerksamkeit !r Ihre Aufmerksamkeit !
Top Related