Dos hermanas con distrofia macular causada por la mutación 3243A>G del ADN mitocondrial / Two sisters with macular dystrophy caused by the 3243A>G mitochondrial DNA mutation

CASO CLÍNICO: Dos hermanas de 54 y 60 años, con antecedentes de diabetes y sordera, consultaron por disminución de la agudeza visual (AV). En la funduscopia se observaban áreas parcheadas de atrofia coriorretiniana con disposición anular alrededor de la fóvea. El estudio genético identificó la mutación heteroplásmica 3243A>G en el ADN mitocondrial, compatible con el síndrome Maternally Inherited Diabetes and Deafness (MIDD) o enfermedad de Ballinger-Wallace. Discusión: El hallazgo de tales alteraciones maculares características, especialmente si se acompaña de diabetes mellitus y sordera, nos debe indicar la realización de un cribado del genoma mitocondrial para identificar este inusual síndrome

CASE REPORT: Two sisters of 54 and 60 years old, with a history of diabetes and deafness, consulted for decreased visual acuity (VA). Funduscopic examination revealed patchy areas of chorioretinal atrophy with annular arrangement around the fovea. Genetic study identified the heteroplasmic mutation 3243A>G in mitochondrial DNA, which supports syndrome maternally inherited diabetes and deafness (MIDD) or Ballinger-Wallace disease. DISCUSSION: The finding of such macular disorders, especially in the presence of diabetes mellitus and deafness, should suggest the performing of a mitochondrial genome screening to identify this unusual syndrome

Simultaneous transplantation of limbal stem cells may reduce recurrences of granular dystrophy after corneal transplantation: 2 long-term case reports.

To present 2 cases with long-term relapse-free intervals only after limbo-keratoplasty but not after conventional penetrating keratoplasty in granular dystrophy.Retrospective review of the patient charts and photographs taken during long-term follow-up of 2 cases with granular dystrophy, in which 1 eye received penetrating keratoplasty and the fellow eye received penetrating limbo-keratoplasty.In the first patient, 1 eye showed extensive recurrence of granular deposits 17 years after penetrating keratoplasty was performed while in the second eye two-thirds of the corneal transplant adjacent to the transplanted limbal area remained clear 12 years after the limbo-corneal transplant. In the second patient, 1 eye showed no signs of recurrence 5 years after limbo-keratoplasty, whereas a recurrence of granular corneal deposits occurred 18 months after surgery in the fellow eye.These cases show that the simultaneous transplantation of healthy donor limbus when performing penetrating keratoplasty may prolong recurrence in granular corneal dystrophy. Although we were unable to prove it on the molecular level, these clinical courses may support the hypothesis that a limbal transplant helps prevent a recurrence.

Long-term effect of intravitreal injection of anti-VEGF agent for visual acuity and chorioretinal atrophy progression in myopic choroidal neovascularization.

PURPOSE: To investigate the long-term visual prognosis and progression of chorioretinal atrophy in patients with myopic choroidal neovascularization (mCNV) treated with intravitreal injections of bevacizumab. METHODS: Hospital-based, retrospective, cross-sectional study. In total, 22 patients (22 eyes) with treatment-naïve mCNV who underwent intravitreal injection of bevacizumab and were followed up for more than 48 months were investigated. Visual acuity and fundus photographs before and 1, 2, 3, and 4 years after initial treatment in the clinics were compared and judged if chorioretinal atrophy (CRA) developed/enlarged or remained unchanged. The influence of clinical characteristics including age, sex, axial length, baseline visual acuity, CNV area, CNV location, and number of injections were investigated with logistic regression analysis. RESULTS: Mean logarithm of the minimum angle of resolution (logMAR) improved from 0.76 to 0.52 (P < .01), 0.48 (P < .01), and 0.54 (P < .05) after 1, 2, and 3 years, respectively. The effect slightly declined to marginally non-significant levels after 4 years (logMAR, 0.59; P = .07). CRA developed or enlarged in nine cases (41 %) in 1 year, reaching 16 cases (73 %) at the final visit. Those without CRA enlargement achieved better visual improvement. None of the aforementioned patient characteristics significantly affected CRA. CONCLUSIONS: Anti-VEGF therapy for mCNV is effective for vision improvement in the long term. On the other hand, development or enlargement of CRA frequently occurred, and affected visual improvement. Strategies to manage atrophy should be the next step in achieving better visual outcome upon mCNV treatment.

Mitomycin C does not inhibit exacerbation of granular corneal dystrophy type II induced by refractive surface ablation.

PURPOSE: To evaluate the effect of mitomycin C (MMC) on the exacerbation of corneal opacity that occurs in patients with granular corneal dystrophy type II (GCD II) after refractive corneal surface ablation. METHODS: Ten eyes of patients with GCD II who underwent refractive corneal surface ablation with MMC were compared with 10 eyes that were not treated with MMC. Best spectacle-corrected visual acuity, the degree of corneal opacity, and contrast sensitivity were evaluated at least 3 years after surgery. Corneal opacities were quantified using Pentacam densitometry maps. RESULTS: No measured between-group value showed a statistically significant difference. CONCLUSION: Simultaneous application of MMC does not prevent exacerbation of GCD II after refractive corneal surface ablation.

[Possibilities and prospects of therapy and prevention of corneal dystrophies]. / Möglichkeiten und Perspektiven der Therapie und Prophylaxe von Hornhautdystrophien.

Therapeutic approaches in corneal dystrophies should aim at long-term avoidance of recurrences. At the moment, this goal can only be achieved by transplantation of healthy corneal cells. In dystrophies of keratocytes and/or endothelial cells this can be realized by conventional penetrating keratoplasty. In epithelial dystrophies, however, simultaneous transplantation of limbal stem cells is necessary. Optimal HLA-matching strategies and immunosuppressive medication are major means to prevent immunological destruction of these.

Estudo eletrofisiológico em distrofia macular viteliforme de Best - (DMVB) / Electrophysiologic study in Best's vitelliform macular dystrophy - (BVMD)

Foram examinados 4 (quatro) pacientes com DMVB, tendo sido realizados exames eletrofisiológicos (EOG, ERG, PEV). Nos pais de dois destes pacientes, apesar da ausência de manifestações oftalmológicas da doença, constataram-se alterações eletrofisiológicas compatíveis. Demonstra-se a importância destes exames no diagnóstico e na prevenção através do aconselhamento genético.

Distrofias, corio retinianas na infância / Chorio retinal distrophies in childhood

Os quadros clínicos, a sintomatologia e os aspectos eletrofisiológicos das mais importantes distrofias cório retinianas afetando as crianças säo apresentados

Experiences with the Boberg Ans lens and sodium hyaluronate (Healonid).

The mean central endothelial cell loss arising with the availability of Sodium hyaluronate (Healonid), from insertion of a Boberg Ans implant was 14 per cent following extracapsular cataract extraction and 16 per cent following intracapsular surgery. These figures compare favourably with those described by other authors following simple intracapsular extraction without lens implantation and the closed chamber techniques demonstrated should be regarded as safe in so far as they virtually eliminate the incidence of late corneal dystrophy as a complication of lens implantation.

Effects of extracapsular implant techniques on endothelial density.

A comparison of surgical techniques with phacoemulsification showed that changing from anterior to posterior chamber emulsification afforded a drop in endothelial cell loss from 24.6% to 12.5%. Implantation of a Shearing posterior chamber lens instead of a Binkhorst two-loop iridocapsular lens did not decrease the cell loss using anterior chamber emulsification. Cell loss was approximately 25% in both groups. The addition of sodium hyaluronate (Healon) to the procedure of posterior chamber emulsification and implantation of a Shearing lens did not raise or lower the cell loss noted when using air alone. However, with the technique described whereby most of the sodium hyaluronate is irrigated from the eye at the end of the procedure, there was no increase in intraocular pressure postoperatively and no untoward effects. Posterior chamber emulsification seems mandatory, and though sodium hyaluronate did not improve cell loss, its use as a precaution seems to be completely safe when correct procedures are followed.

Intraocular gas injection in the pseudophakic patient.

Two patients underwent vitrectomy with the use of intraocular gas. In one patient the cornea decompensated because of lens-cornea contact and in the second patient a surgical technique devised to protect the cornea from lens contact was used successfully. The technique consisted of injecting a smaller gas bubble into the anterior chamber before the instillation of the posterior chamber gas.

[Herpetiform bilateral epithelial corneal dystrophy caused by Tyrosinemia (Richner-Hanhart-Syndrome) (author's transl)]. / Tyrosinämie als Ursache einer doppelseitigen herpetiformen Hornhaut-Epithel-Dystrophie (Richner-Hanhart-Syndrom).

Nutritional Tyrosinemia in animal experiments (Schweizer, Burns a. o.) caused an epithelial corneal dystrophy. The corresponding clinical picture is the Richner-Hanhart-Syndrome with herpetiform epithelial corneal dystrophy, palmo-plantar-keratosis and -- in some case -- a later developing oligophrenia. Goldsmith and coworkers suceeded to find out that all these symptoms are combined with tyrosinemia presumably caused ty one congenital enzyme defect. -- Personal clinical observations of such patients demonstrate that as well the corneal as the dermatological symptoms could be cured by diet, if the diagnosis is made in childhood. Corneal symptoms are still absent with a tyrosinemia as high as 10 mg%. Dietetic formula was found out to maintain this level, which is low enough to avoid the symptoms of Richner-Hanhart-Syndrome and certainly high enough to avoid symptoms of nutritional deficiency. One might expect that oligophrenia will not develop if this diet is used consequently. -- Since the first corneal symptoms develop already during the first years of life the ophthalmologist ought to know this etiology. The levels of tyrosinemia are so exorbitant (30--50 mg%) that the laboratory diagnosis is possible without any difficulty. If the diagnosis is only made in adult patients dietetic therapy is of limited value.