Aim To evaluate changes in the ocular surface and tear film with age and mutational status in congenital aniridia. Methods 45 participants with congenital aniridia (89 eyes) in a prospective, cross-sectional study. Whole-exome sequencing identified the causative mutation. Examinations included slit-lamp biomicroscopy, in vivo confocal microscopy, Ocular Surface Disease Index (OSDI) score, blink rate, Schirmer I test, Oxford Staining Score (OSS), tear film break-up time (TFBUT) and Ocular Protection Index (OPI). Results There were age-dependent increases in OSDI (β=0.34, 95% CI 0.03 to 0.66; p=0.030), blink rate (β=0.18, 95% CI 0.08 to 0.27; p<0.001) and OSS (β=0.05, 95% CI 0.03 to 0.07; p<0.001) and age-dependent reductions in tear production (β=−0.23, 95% CI −0.43 to 0.02; p=0.029) and TFBUT (β=−0.10, 95% CI −0.17 to –0.04; p<0.001). Perturbed OSDI, OSS, blink rate, tear production and TFBUT were noted after the age of ten and OSDI, OSS, blink rate and TFBUT correlated with deficient corneal nerves and limbal stem cell function. OSDI, blink rate, Schirmer, OSS, TFBUT and OPI were not associated with type of PAX6 mutation, but OSDI, OSS and blink rate associated with grade of aniridia-associated keratopathy. Conclusions Ocular surface damage and dry eye signs appear in congenital aniridia regardless of mutation, appearing after 10 years of age and progressing thereafter. An early treatment window may exist for therapies to protect the ocular surface homoeostasis and limbal function, to possibly delay keratopathy development and progression.
Bevezetés: A congenitalis aniridia ritka panocularis betegség, amelyben a szem csaknem minden struktúrája érintett, és a betegek többségének jelentősen csökkent a látóélessége. A congenitalis aniridia szemészeti jelei lehetnek az aniridiához társult keratopathia, másodlagos zöld hályog, szürke hályog, macula- és opticus-hypoplasia, nystagmus. Noha az aniridiához társult keratopathia kifejezés régóta elterjedt az irodalomban, sokféle stádiumbeosztási javaslata került már leírásra. Célkitűzés: Az aniridiához társult keratopathia egyes stádiumainak vizsgálata az irodalomban elérhető stádiumbeosztások szerint, magyarországi aniridiás betegeknél. Betegek és módszerek: 33, congenitalis aniridiás beteg 65 szemét vizsgáltuk (életkor: 25,69 ± 17,49 [5–59] év, 17 nő [51,51%]). Réslámpás vizsgálattal rögzítettük a szaruhártya állapotát, majd Mackman, Mayer, López-García, Lagali stádiumbeosztása alapján osztályoztuk a corneaeltéréseket. Eredmények: A Mackman beosztása szerinti 0. stádiumba 8 szem (12,3%), az 1A stádiumba 0 szem, az 1B stádiumba 38 szem (58,46%), végül a 2. stádiumba 19 szem (29,23%) került. Mayer szerint az I. stádiumba 8 szem (12,3%), a II. stádiumba 38 szem (58,46%), a III. stádiumba 5 szem (7,7%), a IV. stádiumba 7 szem (10,77%), az V. stádiumba pedig 7 szem (10,77%) tartozott. López-García csoportosítása alapján nem került beosztásra 8 szem (12,3%), az 1. stádiumba 20 szem (30,77%), a 2. stádiumba 18 szem (27,7%), a 3. stádiumba pedig 19 szem (29,23%) került. Lagali osztályozása szerint a 0. stádiumba 8 szem (12,3%), az 1. stádiumba 20 szem (30,77%), a 2. stádiumba 18 szem (27,7%), a 3. stádiumba 5 szem (7,7%), a 4. stádiumba pedig 14 szem (21,54%) tartozott. Következtetés: Jelenleg a Lagali és mtsai által kialakított, aniridiához társult keratopathia stádiumbeosztási használatát javasoljuk, hiszen a stádiumbesoroláshoz szükséges vizsgálat könnyen kivitelezhető, a stádiumok kellő részletességgel követik az állapot előrehaladását, segítve a prognózis megítélését, a terápiás terv felállítását. A Lagali szerinti 1. stádiumban az erek legfeljebb 1 mm-rel lépik át a limbust, a 2. stádiumban a centrális 2–3 mm szaruhártya-terület erektől megkímélt. Amikor az erek elérik a szaruhártya centrumát, 3. stádiumról, majd az átlátszatlan, vaskos, egyenetlen cornealis pannus esetén 4. stádiumról beszélünk. Orv Hetil. 2023; 164(27): 1063–1069.
The potential risks and benefits of cataract surgery, in context of congenital aniridia (CA), are not widely understood, yet. Our purpose was to investigate the effect of lens properties on visual acuity (VA), aniridia-associated keratopathy (AAK) stage and presence of glaucoma at the Homburg Aniridia Center.
This rare case report describes the diagnosis and treatment of an isolated left-sided orbital floor fracture with a complete dislocation of the globe into the maxillary sinus and briefly discusses the indications of surgery and recovery for orbital floor fractures in general. Complete herniation of the globe through an orbital blow-out fracture is uncommon. However, the current case illustrates that such an occurrence should be in the differential diagnosis and should be considered, especially following high speed/impact injuries involving a foreign object. In these rare cases, surgical intervention is required.
Background: Histological analysis of two Acanthamoeba keratitis eyes with anterior and posterior segment in ammation and blindness.Methods: Two eyes of 2 patients (age 45 and 51 years) with acanthamoeba keratitis (PCR of epithelial abrasion positive) were analysed.Patients underwent tripletopical therapy (polyhexamethilen-biguanide, propamidin-isethionat and neomycin) with failed recovery, subsequent crosslinking, corneal cryotherapy, repeat penetrating keratoplasties, amniotic membrane transplantations and phacoemulsi cation with posterior chamber lens implantation.The patients developed ocular hypotony with central vein/artery occlusion, retinal/choroidal detachment and had no light perception, therefore, the in amed eyes were enucleated.Histological analysis was performed using haematoxilin-eosin, periodic acid-Schiff and Gömöri-methenamine silver staining.Results: We could not observe acanthamoeba trophozoites or cysts neither in the cornea nor in other ocular tissues.Anterior synechiae was detected in the chamber angle of both globes and lymphocytic in ltration was observed around central retinal artery and vein, associated with brous metaplasia of the retinal pigment epithelium.We found perivascular in ammatory cell in ltration (mainly lymphocytes) in the episclera and around ciliary nerves, when analysing the rst globe.This was associated with non-granulomatous uveitis, cilioschisis and tractional retinal detachment.Cross sections of the optic nerve revealed gliosis and optic nerve atrophy.Histopathologic studies of the second globe revealed a multifocal, nongranulomatous choroiditis with lymphocytic in ltration.Conclusions: In long-standing, recalcitrant acanthamoeba keratitis, uveititis, retinal vasculitis and scleritis may occur and result in blindness, even without further persistence of acanthamoeba trophozoites or cysts.In this stage of acanthamoeba keratitis, systemic immune suppression may be necessary for a longer time period.
Abstract Purpose To propose an optimized microsurgical and medical approach to reduce the risk of complications after penetrating keratoplasty (PKP) in patients with aniridia-associated keratopathy (AAK). Methods Retrospective observational case series of 25 PKP performed in 16 patients with AAK. Preoperative indications were endothelial decompensation and vascularized scars (68%) or graft failure (32%) due to limbal stem cell deficiency. The optimized approach included a combination of a small corneal graft size (around 7.0 mm), interrupted 10–0nylon sutures, simultaneous AMT as a patch, large bandage contact lens, temporary lateral tarsorrhaphy, postoperative autologous serum eye drops, and systemic immunosuppression. Main outcome measures included: visual acuity, transplant survival, and complications encountered during follow-up of 107 weeks on average. Results A complete modified keratoplasty scheme was used in 10 of 25 PKP (group 1), while at least one of the modifications was missing in the other 15 PKP (group 2). After 8 weeks of follow-up, the epithelium was closed in 23 eyes. Visual acuity improved in 19 eyes at 6 months of follow-up, and remained stable in six eyes. None of the eyes showed a decrease in visual acuity. At the last post-operative follow-up, this visual improvement persisted in 14 eyes and graft survival rate after 156 weeks (3 years) was 69% in group 1 versus 44% in group 2 ( p = 0.39, log-rank test). Secondary corneal neovascularization (8%), scarring (4%), ulcer (4%), or graft rejection (8%) happened mostly in the second group which was missing at least one of the suggested modifications. Conclusions PKP in congenital aniridia must be considered as a high-risk keratoplasty. An optimized therapeutic approach seems to be promising in order to reduce the postoperative complication rate in these most difficult eyes.
