Outcomes of Descemet-Stripping Automated Endothelial Keratoplasty in Congenital Hereditary Endothelial Dystrophy.

OBJECTIVES: To evaluate the outcomes and complications of Descemet-stripping automated endothelial keratoplasty (DSAEK) in children with congenital hereditary endothelial dystrophy (CHED). METHODS: Eighteen eyes from 10 children with CHED who underwent standard phakic DSAEK were enrolled in this retrospective interventional case series. Medical records including slit-lamp biomicroscopy, cycloplegic refraction, visual acuity, and measurements of central corneal thickness, corneal topography, and endothelial cell density were evaluated. All complications were recorded. RESULTS: The mean age of cases was 8.1±4.2 (range: 3-16) years at the time of surgery. Descemet-stripping automated endothelial keratoplasty was performed successfully in all eyes, which survived in 16/18 (88.9%) of cases during a median follow-up period of 38 (range 19-64) months. In patients with clear graft, best-corrected visual acuity was improved to a range of 20/100 to 20/40 and improved to fix and follow in one younger child. Endothelial cell density decreased by an average of 42.1%, comparing baseline and 6-month follow-up and was relatively stable thereafter. A marked flattening of the anterior corneal curvature (mean change of anterior K reading: +2.56±3.14 diopters) was observed after DSAEK. The only major complication in patients with clear graft was intraocular pressure elevation in 61.1% of the eyes, which was easily controlled with one antiglaucoma medication. None of the eyes developed cataract. CONCLUSION: Descemet-stripping automated endothelial keratoplasty is a safe and successful procedure in children with an acceptable graft survival in a mid-term follow-up period. A marked hyperopic shift could occur after DSAEK in children with CHED.

Descemet Membrane Endothelial Keratoplasty in Congenital Hereditary Endothelial Dystrophy: Initial Experiences.

PURPOSE: To report our early experiences with Descemet membrane endothelial keratoplasty (DMEK) in congenital hereditary endothelial dystrophy (CHED). METHODS: Retrospective analysis of medical records of eyes with CHED that underwent DMEK between January 1, 2018, and April 30, 2019, and had a minimum of 1-year follow-up. RESULTS: Three eyes of 2 CHED patients (a 10-year-old girl and a 22-year-old man) were included. Both had decreased vision and hazy corneas from birth and underwent DMEK during the study period. Surgery was performed by a single surgeon and was uneventful in all 3 eyes. Within 1 month of surgery, the corneal edema cleared, and vision improved significantly. The mean decimal visual acuity improved from 0.15 ± 0.08 (baseline) to 0.33 ± 0.19 at 3 months. The mean central corneal thickness improved from 928 ± 2.3 µm (baseline) to 555.3 ± 25.8 µm at 3 months. The final visual outcome was less in 1 eye because of dense amblyopia. In all 3 eyes, a subtle stromal haze persisted even after resolution of edema. One eye had graft rejection 7 months after surgery because of discontinuation of medications, effectively managed by increasing the frequency of topical steroids. CONCLUSIONS: DMEK may be a viable option in phakic eyes with CHED.

High measured intraocular pressure in children with recessive congenital hereditary endothelial dystrophy.

PURPOSE: To report the phenomenon of high measured intraocular pressure in recessive congenital hereditary endothelial dystrophy. METHODS: A case series was retrospectively reviewed. RESULTS: Five infants with significant congenital corneal haze had increased measured intraocular pressure that remained high despite drug treatment and surgery to decrease intraocular pressure. The clinical diagnosis of recessive congenital hereditary endothelial dystrophy without glaucoma was made based on the absence of buphthalmos, a distinct pattern of mosaic corneal haze with significant corneal thickness, and absence of cupping in healthy-appearing optic nerve heads. CONCLUSION: Intraocular pressure can be falsely elevated in some children with recessive congenital hereditary endothelial dystrophy, leading to confusion with congenital glaucoma.

[Mutational analysis of VSX-1 in one patient with posterior polymorphous corneal dystrophy and in three families with hereditary Fuchs endothelial dystrophy]. / Mutationsanalyse im VSX1-Gen bei einem Patienten mit posteriorer polymorpher Hornhautdystrophie und drei Familien mit autosomal-dominant vererbter Fuchs'scher Hornhautendotheldystrophie.

BACKGROUND: Fuchs endothelial corneal dystrophy is the most common disease of the corneal endothelium. Besides some sporadic cases, an autosomal dominant inheritance is frequently described. Mutations in the VSX-1 gene are identified as the underlying gene defect for a rarer kind of endothelial dystrophy, posterior polymorphous endothelial dystrophy. We report on mutational analysis of the VSX-1 gene in affected and non-affected family members of three families with autosomal dominant inherited Fuchs endothelial corneal dystrophy and one male patient showing posterior polymorphous endothelial dystrophy. PATIENTS/MATERIALS AND METHODS: From one patient with posterior polymorphous endothelial dystrophy and 10 affected and 15 non-affected family members of three families with autosomal dominant inherited Fuchs endothelial corneal dystrophy DNA was extracted from leukocytes of the peripheral blood and mutational analysis was performed by direct sequencing of the VSX-1 gene. RESULTS: Screening of the VSX-1 gene did not reveal sequence variants in any affected or non-affected individuals from the three families with Fuchs endothelial corneal dystrophy or the patient with posterior polymorphous endothelial dystrophy. CONCLUSIONS: The absence of pathogenic mutations in the VSX-1 gene in affected family members of 3 pedigrees indicates that other genetic factors are involved in the development of familial Fuchs endothelial corneal dystrophy. In addition, VSX-1 seems unlikely to be the crucial gene in our patient with posterior polymorphous endothelial dystrophy.

Corneal transplantation in young children with congenital hereditary endothelial dystrophy. Multicenter Pediatric Keratoplasty Study.

PURPOSE: To describe the surgical success rate and visual results of penetrating keratoplasty in a series of young children with congenital hereditary endothelial dystrophy and to summarize the current literature on outcomes of keratoplasty for congenital hereditary endothelial dystrophy, with particular attention to the timing of surgery. METHODS: The authors conducted a retrospective study of children aged 12 years and younger who underwent penetrating keratoplasty between 1975 and 1994 at four participating eye centers, and who were followed for at least 6 months postoperatively. For this report, 21 corneal transplants performed in 16 eyes of nine patients with congenital hereditary endothelial dystrophy were studied. Patients' median age at the time of first keratoplasty was 40 months (range, 3 months to 10 years). RESULTS: During a mean follow-up period of over 70 months (range, 6 to 240 months), 11 (69%) of 16 eyes retained full graft clarity. The 2-year survival rate of first grafts was 71% (95% confidence interval, 47% to 95%). Postoperative visual acuity improvement of 1 or more Snellen lines was seen in five of 10 eyes in which the patients were old enough for accurate assessment of visual acuity; however, just four of these 10 eyes attained a visual acuity of 20/200 or better. CONCLUSIONS: Penetrating keratoplasty for congenital hereditary endothelial dystrophy in children has a reasonable chance of surgical success when performed at a young age; however, the prognosis for improved visual acuity in children appears to be more guarded. Decisions on the timing of surgical intervention for congenital hereditary endothelial dystrophy should be made on a case-by-case basis. Although the threat of irreversible amblyopia in untreated eyes and good surgical success rates even among very young children argue for the consideration of relatively early surgical intervention in the most severely affected cases, there is evidence to support delaying surgery in some cases.

Penetrating keratoplasty in congenital hereditary endothelial dystrophy.

PURPOSE: The purpose of the study is to determine the outcome of penetrating keratoplasty in congenital hereditary endothelial dystrophy. METHODS: Records of 40 patients (13 males, 27 females) who underwent penetrating keratoplasty (56 eyes) were reviewed. The mean age at surgery was 11.8 years (range, 2 months-35 years). The mean follow-up was 37 months (range, 6-136 months). RESULTS: In 35 (62.5%) of 56 eyes that underwent primary penetrating keratoplasty, the grafts survived. Graft survival analysis showed the probability of obtaining a clear graft is 92% at 1 year, 72% at 2 years, and 56.5% at 5 years. Graft survival was statistically better in eyes where onset of the disease is delayed (P = 0.02), if the graft donor age is between 5 and 30 years versus older than 30 years (P = 0.02), and for patients who kept follow-up appointments versus those who were delinquent (P < 0.03). Visual acuity was 20/40 in 1.9%, 20/50 to 20/80 in 18.9%, 20/100 to 20/300 in 49%, and less than 20/400 in 30.2%. The main causes of graft failure were graft rejection (six eyes) and bacterial keratitis (four eyes). CONCLUSIONS: Penetrating keratoplasty in congenital hereditary endothelial dystrophy is moderately successful, and graft survival is better in cases of delayed onset compared with that of congenital onset. Early surgical intervention is recommended to prevent development or progression of amblyopia.