Surgical Treatment Options in Congenital Aniridia –

Surgical Treatment Options
in Congenital Aniridia –
Cataracts, Glaucomas, Corneal Opacities
Berthold Seitz
Universitätsklinikum des Saarlandes UKS
Klinik für Augenheilkunde, Homburg/Saar
Direktor: Prof. Dr. med. Berthold Seitz, ML, FEBO
Unsere Augen – das Tor zur Welt
Universitätsklinikum des Saarlandes UKS
Klinik für Augenheilkunde, Homburg/Saar
Direktor: Prof. Dr. med. Berthold Seitz, ML, FEBO
Surgical Treatment Options in Aniridia
Surgical Treatment Options in Aniridia
Surgical Treatment Options in Aniridia
Basics in Aniridia
Incidence: 1:64.000 – 1:96.000
Decreased acitivity of PAX6 gene
on chromosome 11p13
2/3 autosomal dominant inherited
Wilms tumor predisposition (sporadic)
Surgical Treatment Options in Aniridia
Defective Ocular Tissues in Aniridia
Cornea
Iris
Lens
Chamber Angle (Glaucoma)
Fovea
Papilla
>> Low Vision
>> Nystagmus
Surgical Treatment Options in Aniridia
Anatomy of the Eye
Surgical Treatment Options in Aniridia
Reversible Blindness vs. Irreversible Blindness
(Cornea, Lens, Vitreous)
Cataract
Corneal Opacities
(Optic Nerve, Retina, Brain)
Glaucoma
Surgical Treatment Options in Aniridia
Aniridia is an Orphan Disease
There are no straight-forward
generally accepted
treatment modalities !!
Surgical Treatment Options in Aniridia
Typical Patient‘s Records
Surgical Treatment Options in Aniridia
Typical Patient‘s Course of Disease - PF
15.11.2001:
04.04.2003:
Date of birth
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:
07.01.2009:
03.03.2010:
30.03.2010:
27.07.2010:
25.04.2013:
OD/OS CPK
OD/OS CPK
OD/OS CPK
OD Phaco + Morcher black iris diaphragm IOL
OD ppVy with removal of fibrous membrane, hyopotony
last visit - VA OD LP, OS0.1
Surgical Treatment Options in Aniridia
Typical Patient‘s Course of Disease - SW
03.11.1986:
10.03.1987:
Date of birth
Date of first presentation
- congenital partial aniridia
- macula hypoplasia
- nystagmus
14.06.1993:
21.11.1996:
28.11.1996:
20.02.1997:
08.05.2001:
12.09.2001:
22.08.2011:
25/26.10.2012:
12.03.13:
Incipient subcapsular cataract
OD Phaco + Morcher black iris diaphragm IOL
OS Phaco + Morcher black iris diaphragm IOL
OD ppVy with removal secondary cataract
OS Ahmed valve glaucoma surgery
OD Ahmed valve galucoma surgery
OS CPK
OD/OS CPK
last visit: VA OD/OS 1/50 LT in 1 m
Surgical Treatment Options in Aniridia
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
Pathophysiology of Aniridic Glaucomas
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
Surgical Treatment Options in Aniridia
Chamber Angle
Surgical Treatment Options in Aniridia
Glaucomas in Children
congenital
with congenital
anomalies
Aniridie
Axenfeld-Rieger Syndrom
Sturge-Weber Syndrom
Marfan-Syndrom
Buphthalmus
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
Aniridic Glaucoma
Surgical Treatment Options in Aniridia
Glaucoma Diagnostics
3 Approaches
IOP
Morphology of
Optic Nerve
Head
Visual Fields
Surgical Treatment Options in Aniridia
Gonioscopy
Surgical Treatment Options in Aniridia
IOP Measurement
Applanation tonometry
Goldmann
Impression tonometry
Schiötz
Icare tonometer
Surgical Treatment Options in Aniridia
IOP Measurement
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
Surgical Treatment Options in Aniridia
Optic Nerve Head
Surgical Treatment Options in Aniridia
Optic Nerve Head
Surgical Treatment Options in Aniridia
Aniridic Glaucoma
Surgical Treatment Options in Aniridia
Documentation of Optic Nerve Head
Surgical Treatment Options in Aniridia
Visual Fields
Surgical Treatment Options in Aniridia
Visual Fields
Glaucoma Early Stage
Surgical Treatment Options in Aniridia
Visual Fields
Glaucoma Late Stage
Surgical Treatment Options in Aniridia
Topical Antiglaucomatous Therapy
Surgical Treatment Options in Aniridia
Topical Antiglaucomatous Therapy
Surgical Treatment Options in Aniridia
Options of Glaucoma Surgery
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 ???
Surgical Treatment Options in Aniridia
Trabeculectomy with MMC
Surgical Treatment Options in Aniridia
Glaucoma Drainage Devices
Corneal decompensation in up to 30% of eyes
Topouzis et al.
Am J Ophthalmol 1999
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
Artificial Iris ?????
Surgical Treatment Options in Aniridia
Artificial Iris
Surgical Treatment Options in Aniridia
Options for Compensation of Iris Hypoplasia
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“
Tsai JH, Freeman JM, Chan CC et al: A progressive anterior fibrosis syndrome in
patients with postsurgical congenital aniridia. Am J Ophthalmol 2005; 140:10751079
CAVE: PANAMA - „NewColorIris“
George MK, Tsai JC, Loewen NA: Bilateral irreversible severe vision
loss from cosmetic iris implants. Am J Ophthalmol 2011; 151:872-875
Surgical Treatment Options in Aniridia
Artificial Iris from Gore-Tex
Simulation zur Implantation einer Iris-Teilprothese
Gesundes Auge
mit intakter Iris
(Foto als Vorlage)
Verletztes Auge partielle Aniridie
Fixierung der
Iris-Teilprothese
Endergebnis des
operierten Auges
(Die Naht ist praktisch nicht sichtbar)
Dr. Schmidt Intraocularlinsen
GmbH
Surgical Treatment Options in Aniridia
Instead of Artificial Iris ……
Surgical Treatment Options in Aniridia
Major Treatment Problems
Lens Abnormalities
and Cataract - 50% - 85%
Lee H, Khan R, O‘Keefe M: Aniridia: current pathology and
management. Acta Ophthalmol 2008; 86:708-715
Surgical Treatment Options in Aniridia
The Lens in Aniridia
Fragile anterior lens capsule
Zonular weakness
Morphological changes at the equator
Surgical Treatment Options in Aniridia
The Lens in Aniridia
HH
26011999
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
IOL Calculation
Surgical Treatment Options in Aniridia
IOL Calculation
Eye length
Surgical Treatment Options in Aniridia
IOL Calculation
Corneal Curvature
Corneal Power
Surgical Treatment Options in Aniridia
> 2000 Cataract Surgeries per Year in HOM
- 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
Phacoemulsification
Surgical Treatment Options in Aniridia
Standard Cataract Surgery +
Implantation of Artificial Lens
Microsurgeon: B. Seitz
Surgical Treatment Options in Aniridia
Options of Lens Surgery
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)
Surgical Treatment Options in Aniridia
Black Iris Diaphragm IOL
HI 13061962
Aufn 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
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
Surgical Treatment Options in Aniridia
Coloured Iris Diaphragm IOL
http://www.sciencedirect.com/science/article/pii/S0181551209000722#fig4
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
Surgical Treatment Options in Aniridia
Morcher Aniridia Ring Type 50C
http://www.sciencedirect.com/science/article/pii/S0181551209000722#fig4
Surgical Treatment Options in Aniridia
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
Anirida-Associated Keratopathy (AAK)
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 involves
excessive manipulation of the limbus – or
after application of topical antimetabolites to treat
aniridia-associated glaucoma
Edén U, Riise R, Tornqvist K: Corneal invcolvement in congenital
anirida, Cornea 2010; 29:1096--1102
Surgical Treatment Options in Aniridia
Conservative Treatment of AAK
Dark glasses against photophobia
Preservative-free lubricants
Hyaluronic acid containing artificial tears
100% autologous serum eye drops
Jastaneiah S & Al-Rajhi AA: Association of aniridia and dry eyes. Ophthalmology
2005; 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)
Surgical Treatment Options in Aniridia
Options of Corneal Surgery
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
Systemic immunosuppression necessary !!!!
Surgical Treatment Options in Aniridia
Options of Corneal Surgery
Penetrating excimer laser keratoplasty ?
14 mm deep lamellar corneoscleral graft
14 mm peripheral lamellar/central penetrating
corneoscleral graft
Boston keratoprosthesis
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
~ 35.000 pro Jahr in den U.S.A. ↓
~ 4.500 pro Jahr in Deutschland ↓
~
250 pro Jahr in Homburg/Saar ↑
Deutsches Keratoplastikregister
gemeldete Hornhauttransplantationen pro Jahr
1980-2011
4533
4257
2009
4030
4380
2008
3631
2006
4064
3673
4840
2004
2005
4735
2003
2724
2391
3025
4848
1470
1989
2002
1363
1988
4730
1407
1987
2001
1262
1986
3355
1203
1985
1997
1246
1984
1920
1145
1983
1692
1045
789
1000
1982
3000
2000
3375
3245
1993
2430
3367
1992
4000
4148
5000
1996
6000
Sektion Kornea in der DOG
2011
2010
2007
2000
1999
1998
1995
1994
1991
1990
1981
1980
0
Surgical Treatment Options in Aniridia
Processed Corneas since Foundation of
LIONS Eye Bank in Homburg/Saar
Hornhautentnahmen
Universitäts-Augenklinik Homburg/Saar
500
377
354
369
288
300
260
256
210
200
185
158
154
172
Heute:
Tag der Organspende !!!
100
Kalenderjahr
2011
2010
2009
2008
2007
2006
2005
2004
2003
2002
2001
0
2000
Anzahl Hornhautentnahmen
414
400
Surgical Treatment Options in Aniridia
Corneal Transplantations in the
Department of Ophthalmology in Homburg/Saar
Keratoplastiken
Universitäts-Augenklinik Homburg/Saar
243
240
200
171
162
160
113
120
76
64
62
52 57
1996
71
1995
80
71
80
104
94
89
105
90 85 94
65
40
13
Kalenderjahr
2011
2010
2009
2008
2007
2006
2005
2004
2003
2002
2001
2000
1999
1998
1997
1994
1993
1992
1991
1990
0
1989
Anzahl Keratoplastiken
208
202
Surgical Treatment Options in Aniridia
Methode der Excimerlaser-Trepanation
Rotierender Laserstrahl
geführt über HeNe-Laser
Rotierender Laserstrahl
geführt über HeNe-Laser
Photoablation
Photoablation
Spendermaske
durch die Maske geschütztes
Hornhautgewebe
Spender
Empfängermaske
durch die Maske geschütztes
Hornhautgewebe
Empfänger
Spendermaske mit acht
Erlanger/Homburger
„Orientierungszähnchen“
Empfängermaske mit acht
„Orientierungskerben“
Spendertrepanation
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
Surgical Treatment Options in Aniridia
„Orientation Teeth“
Practical
Advantage
for the
Microsurgeon
Exact positioning of the second cardinal suture
Surgical Treatment Options in Aniridia
Excimer Laser Trephination - VIDEO
Typical corneal grafts
6 weeks after keratoplasty
Surgical Treatment Options in Aniridia
Excimer Laser Keratoplasty with Single Sutures
Markus Klingenstein
16121985
Aufn v 050122012
Surgical Treatment Options in Aniridia
Irreversible Graft Failure After Keratoplasty
SF
21031972
Foto 29092010
Surgical Treatment Options in Aniridia
Excimer Laser Keratoplasty with Single Sutures
SF
21031972
Foto 22112010
Surgical Treatment Options in Aniridia
Excimer Laser Keratoplasty with Single Sutures
SF
1031972
Foto 11052011
Surgical Treatment Options in Aniridia
Excimer Laser Keratoplasty with Single Sutures
SF
21031972
Foto 26102011
Surgical Treatment Options in Aniridia
Central 14 mm Corneoscleroplasty
Spender
Indispensable: Save the scleral spur !!
Surgical Treatment Options in Aniridia
Central 14 mm Corneoscleroplasty
Systemic Immunosuppression (Cyclosporin A oder MMF)
Surgical Treatment Options in Aniridia
Boston Keratoprosthesis in Children
Boston Keratoprosthesis
Visual results
diagnosis
patno
BCVA
Preop
BCVA
Postop
1
chem burn
LP
0.5re OK
0.15LP
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
Surgical Treatment Options in Aniridia
Summary
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.
Surgical Treatment Options in Aniridia
Conclusions
Despite our increasing understanding
of the genetics and pathophysiology
of congenital aniridia,
effective treatment remains elusive
with many of the conditions recurring
after surgical intervention.
Strongly individualized approach stay conservative
Surgical Treatment Options in Aniridia
Erfahrung ist nicht vererbbar –
Jeder muß seine eigenen machen.
Kurt Tucholsky
Journalist und Schriftsteller
1890 - 1935
Surgical Treatment Options in Aniridia
Unsere Augen – das Tor zur Welt
Universitätsklinikum des Saarlandes UKS
Klinik für Augenheilkunde, Homburg/Saar
Direktor: Prof. Dr. med. Berthold Seitz, ML, FEBO
Ophthalmologist are Organ Donors!
Thank you very much for your attention!
berthold.seitz@uks.eu
Augenärzte sind Organspender !
Vielen Dank ffür
ür Ihre Aufmerksamkeit !
berthold.seitz@uks.eu
berthold.seitz@uks.eu