Search

Purpose: The purpose of this study was to describe the genotypic and phenotypic characteristics of an infant with a SLC4A11 mutation associated with bilateral corneal edema, hearing loss, and hydronephrosis present since birth., Methods: This was a case report. Ophthalmic and systemic examination of the proband, histopathologic and ultrastructural characteristics of bilateral corneal discs, and molecular genetic evaluation by whole-exome sequencing are described., Results: A male infant was born with bilateral corneal opacities, sensorineural hearing loss, and hydronephrosis to healthy parents after an uneventful pregnancy. Penetrating keratoplasty of the left eye at age 10 months demonstrated minimal corneal edema with normal thickness Descemet membrane and cellular endothelium with intracytoplasmic vacuoles and degenerative changes in rare cells. Penetrating keratoplasty of the right eye 6 months later disclosed prominent corneal edema with a thickened posterior banded layer of Descemet membrane and severe endothelial atrophy. Whole-exome sequencing of the proband and parents' blood demonstrated a homozygous mutation in SLC4A11 gene (c.1735_1737delCTC,p.Leu579del). The combined clinical, histopathologic, and molecular genetic findings raised consideration of an unusual phenotype of Harboyan syndrome manifesting as congenital hereditary endothelial dystrophy with a prelingual rather than, as previously described, postlingual hearing loss., Conclusions: We report a novel homozygous SLC4A11 variant with a previously undocumented phenotype of CHED in association with prelingual sensorineural hearing loss and hydronephrosis, thus broadening our understanding of the spectrum of genotypic and phenotypic findings of Harboyan syndrome., Competing Interests: Conflicts of interest statement: The authors have no funding or conflicts of interest to disclose., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)

Purpose: To evaluate and compare the visual outcomes and recurrence patterns of corneal stromal dystrophies after excimer laser phototherapeutic keratectomy (PTK) in eyes with and without a corneal graft., Design: Retrospective, comparative case series., Methods: setting: Cornea Service, Wills Eye Institute, Philadelphia Pennsylvania. study population: The patients were divided into 2 groups. Group 1 comprised patients with no graft who underwent PTK (22 eyes of 15 patients), and group 2 comprised patients who underwent PTK over a previous full-thickness graft (18 eyes of 14 patients). intervention: All patients underwent PTK for decreased vision, symptoms of recurrent erosions, or both. main outcome measures: Visual outcomes and recurrence patterns of corneal stromal dystrophies., Results: Preoperative and postoperative best-corrected visual acuities were 0.46 ± 0.25 and 0.51 ± 0.27 (P = .56), respectively, in group 1 and 0.16 ± 0.13 and 0.21 ± 0.18 (P = .25), respectively, in group 2. Mean preoperative spherical equivalent was 1.54 ± 2.59 diopters (D) and -5.10 ± 5.81 D (P = .01) in groups 1 and 2, respectively, and mean postoperative spherical equivalent was 0.44 ± 1.8 D and -1.8 ± 4.25 D (P = .19) in groups 1 and 2, respectively. There was no statistically significant difference in the efficacy (P = .73) and safety (P = .62) indices between the 2 groups. In group 1, mild recurrence was seen in 7 eyes (32%) and significant recurrence was seen in 4 eyes (18%) at a mean of 32 and 47 months after PTK, respectively. In group 2, mild recurrence was seen in 5 eyes (28%) and significant recurrence was seen in 5 eyes (28%) at a mean of 36 and 50 months after PTK, respectively., Conclusions: PTK improved central corneal clarity, alleviated symptoms resulting from recurrent erosions, and improved visual acuity in both groups., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Purpose: To discuss the initial results of fitting SynergEyes hybrid contact lenses (SynergEyes, Inc, Carlsbad, CA) for keratoconus (KC) and pellucid marginal degeneration (PMD)., Methods: The charts of patients fit with SynergEyes lenses during the first 7 months the lens was available on the Cornea Service at Wills Eye Institute (August 3, 2006 to March 5, 2007) were retrospectively reviewed., Results: Sixty-one eyes (44 patients) with KC (58 eyes) or PMD (3 eyes) were fit with SynergEyes hybrid contacts. The mean age was 40 +/- 12.6 years; the mean follow-up period was 7.8 +/- 4.6 months. The most common indication for SynergEyes was rigid gas permeable (RGP) lens intolerance, 31 of 61 eyes (50.8%). Inability to fit with RGP was the indication in 8 eyes (13.1%), and 22 eyes (36%) were refit from SoftPerm (Ciba Vision, Corp, Duluth, GA). Twenty-two patients required refitting, including 17 base curve changes and 5 skirt changes. The success rate was 86.9% (53 of 61 eyes). Most failures (8 eyes of 6 patients) discontinued the lens within the first 1-2 months because of discomfort (5 eyes) or unsatisfactory vision (3 eyes)., Conclusion: SynergEyes lenses are a promising alternative for visual rehabilitation in patients with KC and PMD who are intolerant or unable to be fit in RGP lenses.

Objective: To report the concomitant presentation of keratoconus and corneal dystrophies at Wills Eye Hospital for the 10-year period from January 1, 1997, to December 31, 2006., Methods: Patients with concomitant keratoconus and corneal dystrophies were identified using a computer database. Complete ophthalmologic examination, keratometry, pachymetry, and computerized videokeratography were performed in all patients. When present, cornea guttata were confirmed by clinical examination and specular microscopy. Histopathologic examination with special stains of excised corneal buttons was performed., Results: Fifty-one patients manifested typical signs and topographic evidence of keratoconus associated with another corneal dystrophy. Fuchs dystrophy was the most common association accounting for 27 cases (52.9%), followed by anterior basement membrane dystrophy with 13 cases (25.5%) and posterior polymorphous dystrophy with 7 cases (13.8%). A bilateral combination of Fuchs dystrophy and anterior basement membrane dystrophy with keratoconus was seen in 3 cases (5.8%). Finally, there was 1 bilateral case (2%) of granular dystrophy. Histopathologic studies in cases that underwent penetrating keratoplasty confirmed the clinical diagnoses., Conclusion: To our knowledge, this is the largest report of such a concurrence in the English literature and could lead to further studies on the possible pathophysiologic or genetic links between these entities, although a chance association cannot be excluded.

Purpose: To compare intraocular pressure (IOP) measurements in patients with keratoconus (KC), pellucid marginal degeneration (PMD), and unilateral penetrating keratoplasty (PK) for KC by Goldmann applanation tonometry (GAT), Tono-Pen tonometry (TP), and Pascal dynamic contour tonometry (DCT)., Methods: Patients with KC, PMD, or PK were included in a prospective study. IOPs were measured by GAT, TP, and DCT. Severity of ectasia was determined by the steep curvature by corneal topography and central thinning by contact ultrasound pachymetry. IOP measurements were compared and correlated with disease severity., Results: Fifty-three eyes of 36 patients were enrolled. Mean age was 45.3 +/- 12.5 years (range: 28-72 years). Twenty-nine eyes had KC, 21 eyes had a PK for KC, and 3 eyes had PMD. Mean DCT, GAT, and TP readings were 16.1 +/- 2.9, 14.3 +/- 4.1, and 13.8 +/- 4.1 mm Hg, respectively. The differences of mean IOP between GAT and DCT and TP and DCT were statistically significant, whereas the difference between GAT and TP was not. Both GAT and TP readings were significantly higher in the PK eyes than the KC and PMD eyes, whereas DCT readings were not. DCT measurements were not significantly different in PK versus non-PK eyes., Conclusion: DCT is a newly Food and Drug Administration (FDA)-approved device that is designed to measure IOP, independent of corneal thickness, corneal curvature, and ocular rigidity. DCT gave significantly higher IOP readings than GAT and TP in this study. DCT readings were not affected by corneal thickness. DCT may be more accurate in IOP measurement in eyes with KC and PMD.

Purpose: To determine the outcome of patients with decreased vision associated with anterior basement membrane dystrophy (ABMD) managed with diamond burr (DB) polishing., Design: Retrospective nonrandomized case series., Methods: A chart review of all patients with ABMD who underwent epithelial debridement and DB polishing to treat visual disturbances resulting from corneal epithelial irregularity was performed., Results: Ten patients' charts were analyzed. The mean age was 57.4 years. DB treatment was performed in 13 eyes. The average preoperative BCVA was 0.40 (20/50). At the last follow-up (mean 21.8 months) the average visual acuity of these patients was 0.88 (20/23), significantly better than pre-operative readings (P < .001). There was no recurrence of dystrophic changes in the treatment zone seen with the slit lamp during the follow-up period., Conclusions: In this study, DB polishing was shown to be an effective and safe treatment for decreased vision caused by to ABMD over an average follow-up of 21.8 months.

Purpose: This study was designed to determine how patients with pellucid marginal corneal degeneration (PMCD) are managed in a tertiary corneal practice., Methods: A retrospective chart review of 45 patients with PMCD from a corneal referral practice was performed. Information collected from the medical records included demographic data, best-corrected visual acuity, videokeratography, contact lens use, and surgical procedures., Results: Forty-five patients (85 eyes; 30 males, 15 females) with PMCD were included in this study. They were followed-up for an average of 4.7 years (standard deviation (SD), +/-8.7). Seventy-five eyes (88.2%) were managed nonsurgically with spectacles in 31 eyes (36.4%) or contact lenses in 44 eyes (51.8%). Contact lens management was initially attempted in 51 eyes (60%); however, 7 eyes failed contact lenses. Visual acuity of 0.5 (20/40) or better was noted in 34 eyes (75.5%) after contact lens fit. Ten eyes (11.8%) underwent penetrating keratoplasty with an average postoperative follow-up of 9 years (SD, +/-8.2; 1.5-20.5). Clear grafts were present in all 10 eyes at the end of the study (average, 9 years; SD, +/-82)., Conclusions: Nonsurgical management of PMCD continues to play a predominant role in the management of this disorder. Poor best-corrected visual acuity at presentation of 0.2 (20/100) or worse and long follow-up (8 years or more) were significantly associated with surgery.