12-year follow-up of the first endothelial keratoplasty without Descemet stripping in a 3-month newborn with Congenital Hereditary Endothelial Dystrophy (CHED).

BACKGROUND: Endothelial Keratoplasty (EK) is now considered as the standard treatment for Congenital Hereditary Endothelial Dystrophy (CHED) by many surgeons. We present the 12-year clinical outcome of the youngest operated patient with CHED in which we successfully performed a bilateral EK procedure without removing the recipient endothelium-Descemet complex. CASE PRESENTATION: In November 2010 we performed EK without Descemet Stripping in a 3-month female newborn, thinking that the lower manipulation obtained by leaving the recipient endothelium-Descemet complex could be the key factor for the success of our surgery. Such a particular technique was new in newborns. The surgery was a success, but the long-term visual result was not predictable at that time. We followed the patient at 4 months, and then yearly. At the latest visit in October 2022 the visual, cognitive, and motorial developments were normal, with Best-corrected Distance Visual Acuity of 0.4 LogMAR with - 0.75 D sf + 2.75 D cyl @ 105° in the right eye (RE) and 0.4 LogMAR with + 1.50 D sf + 2.50 D cyl @ 60° in the left eye (LE). The endothelial microscope showed an unexpected healthy endothelium, with a cell count of 2383 cells/mm2 in the RE and of 2547 cells/mm2 in the LE from a starting donor count of 2900 cells/mm2. No secondary procedures were performed during the 12-year follow-up. CONCLUSION: EK without Descemet stripping has proved to be a successful procedure over time in our newborn. The unexpected healthy endothelium suggests a role of the Descemet membrane in CHED.

One-dioptre toric IOL versus spherical IOL in eyes with low preoperative corneal astigmatism.

PURPOSE: To investigate the advantages/disadvantages of a 1.0 D toric IOL vs spherical IOL after regular phacoemulsification in eyes with preoperative astigmatism ≤ 1 D. METHODS: Retrospective comparative series involving pseudophakic eyes with preoperative topographic astigmatism ≤ 1.0 D implanted either with monofocal 1.0 D Toric IOL (T-group), or with spherical IOL (S-group). The postoperative refractive astigmatism (PRA, i.e. surgically induced + corneal) was the main outcome; also considered in the analyses were the uncorrected and best-corrected distance visual acuity (VA). The data were referred to the last postoperative follow-up visit, 2 to 4 months after surgery. RESULTS: A total of 60 eyes were included: 30 in the T-group and 30 in the S-group, matched for patient's age, laterality, and axial length. Before surgery, the mean corneal astigmatism was 0.62 ± 0.39 D in the T-group and 0.54 ± 0.33 D in the S-group (p = 0.4). In the S-group, PRA was 0.73 ± 0.37 D, higher than the corresponding preoperative corneal astigmatism (p = 0.040). In the T-group, PRA was 0.58 ± 0.31 D; the variation was not statistically significant. Uncorrected VA was significantly better in the T-group vs the S-group (p = 0.007), and the best-corrected VA was comparable in the two groups. CONCLUSION: The present study indicated that in eyes with very low preoperative astigmatism, 1.0 D toric IOLs were able to limit the increase of the PRA instead of those observed with the spherical IOLs. This could support the better uncorrected VA recorded in the T-group.

Parsplana vitrectomy alone versus parsplana vitrectomy combined with phacoemulsification for the treatment of rhegmatogenous retinal detachment: a randomized study.

BACKGROUND: To compare parsplana vitrectomy (PPV) with and without phacoemulsification to treat rhegmatogenous retinal detachment (RRD). METHODS: Subjects aged 48-65 years with RRD in a phakic eye due to superior retinal tears with an overall extension of retinal breaks < 90° underwent to PPV alone (group A); or PPV plus phacoemulsification (phacovitrectomy, PCV, group B). Post-operative follow-up visits occurred at 1 week, 1 month (m1), 3 months (m3), and 6 months (m6) after surgery. The main outcome was the rate of retinal reattachment. Secondary outcomes included best-corrected visual acuity (BCVA), intraocular pressure (IOP), central macular thickness (CMT), and cataract progression (in the lens-sparing [PPV-alone] group). RESULTS: In this initial phase of the study a total of 59 patients (mean age: 55 years, 59 eyes) were enrolled: 29 eyes in group A and 30 eyes in group B. Both groups had similar gas tamponade. During the follow-up there were three cases of RRD recurrence in group A and one in group B. The relative risk of recurrence in group A was 3.22 times higher but the difference was not significant (p = 0.3). The two groups were also similar in terms of BCVA and IOP variation. At m3, CMT was significantly higher in group B (p = 0.014). In group A, cataract progression was significant at m6 (p = 0.003). CONCLUSIONS: In a cohort of RRD patients selected according to their preoperative clinical characteristics, PPV was comparable to PCV in terms of the rate of retinal reattachment after 6 months. TRIAL REGISTRATION: ISRCTN15940019 . Date registered: 15/01/2021 (retrospectively registered).

Refractive Outcome and 5-Year Capsulotomy Rate of Hydrophobic and Hydrophilic IOLs with Similar Optical Design: A Contralateral Study.

INTRODUCTION: To compare the short-term visual and aberrometric outcomes and the long-term capsulotomy incidence in a cohort of patients receiving IOLs with similar structural profile but with a hydrophobic matrix in one eye (PHOB group) and a hydrophilic matrix in the other one (PHIL group). METHODS: In this retrospective, contralateral study, 26 patients sequentially undergoing phacoemulsification were implanted as mentioned above. Refraction and aberrometry were evaluated 6 months after surgery. For the quality of vision, the Hartmann-Shack optical aberration, Double-Pass Modulation Transfer Function (MTF), contrast sensitivity, and dysphotopsia results were compared. Capsulotomy was ascertained and dated by medical chart revision or phone call. RESULTS: All the considered quantitative and qualitative visual parameters tested statistically comparable between PHIL and PHOB group. After 5 years, four patients (16.7%) in the PHOB group and five patients (20.8%) in the PHIL group underwent a Nd:YAG posterior capsulotomy (P > 0.5). CONCLUSION: In this contralateral comparative study, the hydrophobic and hydrophilic matrix of the IOL similarly influenced the visual and aberrometric outcomes. Also the long-term laser capsulotomy incidence did not statistically differ between groups. The posterior IOL profile, rather than matrix hydrophilia, could consistently influence the posterior capsule opacification.

Acuity and Quality of Vision in Eyes with Epithelial Basement Membrane Dystrophy after Regular Pseudophakia.

PURPOSE: This retrospective case-control study was conducted to quantitatively and qualitatively assess the visual impairment in eyes with Epithelial Basement Membrane Dystrophy (EBMD) after regular cataract surgery. METHODS: EBMD pseudophakic eyes were compared with matched pseudophakic eyes free from surface disorders. At least 3 weeks after surgery we evaluated uncorrected and best-corrected distance visual acuity (UDVA and CDVA), objective aberrometry, Point Spread Function (PSF), Modulation Transfer Function (MTF), and patient complaints. RESULTS: Twenty-five EBMD eyes and 25 control eyes (13 patients per group) were included. Nine patients per group had a monofocal IOL, and four patients had a trifocal IOL. All the EBMD patients complained of postoperative blurred vision with ocular discomfort; intensive use of lubricants induced subjective improvement only in eyes with monofocal IOLs. Postoperative mean UDVA was 0.19 ± 0.16 LogMAR in the EBMD eyes and 0.11 ± 0.04 LogMAR in the control group (p = 0.016). Mean CDVA was 0.18 ± 0.15 LogMAR in the EBMD eyes and 0.06 ± 0.04 LogMAR in the control eyes (p = 0.001). The PSF curve width was significantly worse in the EBMD group (p < 0.001). The MTF cut-off value was lower in the EBMD group than in the control group (p < 0.001). CONCLUSION: After cataract removal, eyes with EBMD had significantly lower UDVA and CDVA than controls. All the aberrometric parameters were significantly worse in EBMD cases. EBMD patients complained about their postoperative visual outcome, while control patients did not.

A case of morgagnian cataract mimicking an iris tumor.

PURPOSE: To report, with the aid of original imaging, an unusual differential diagnosis of an iris tumor. OBSERVATIONS: A 60-year-old Caucasian man visited our clinic with a large amelanotic iris mass in the left eye in the absence of concomitant extraocular inflammation or neoplastic evidence. The patient reported an ocular trauma caused by a wire 5 years prior to his visit, which resolved after a short course of antibiotic eye drops. Orbital magnetic resonance imaging with contrast enhancement was consistent with an iris tumor; ultrasound biomicroscopy indicated a semi-solid, mid-stromal iris formation continuous with the lens. Surgical inspection was performed. Surgery showed the presence of a hypermature cataract with a fine break in the anterior capsule of the lens covered by the iris surface. The liquefied cortex infiltrated the iris without diffusing into the aqueous humor. CONCLUSIONS AND IMPORTANCE: A so-called morgagnian cataract developed, likely following a penetrating ocular wound. The progressive, slow infiltration of the iris stroma by the crystalline matrix mimicked the appearance of an amelanotic iris tumor.

Kinetics of visual field loss in Usher syndrome Type II.

PURPOSE: To characterize the kinetics of visual field decay in Usher syndrome type II. METHODS: The area of 137 Goldmann visual fields (GVFs) delimited with the I4e and V4e targets was measured in each eye of 19 patients with an established diagnosis of Usher syndrome type II, and the average interocular GVF area for each patient at each time point was calculated. The average follow-up was 5.58 years. Symptomatic disease duration was defined as years elapsed after symptoms were first noted. The data set (n = 67 for the I4e target; n = 70 for the V4e target) was analyzed with a random coefficient mixed model to identify the best-fit model describing the decay of visual field size over time. The half-life of the residual visual field area (t(0.5)) was also calculated. RESULTS: The variable that best explained the decay of the GVF area was the duration of symptomatic disease. In an exponential model, the slope estimate for the natural log of the GVF area was -0.172 for the I4e target and -0.136 for the V4e target for each year of symptomatic disease. Accordingly, t(0.5) was approximately 4 years for the I4e target and 5 years for the V4e target. These estimates are very similar to those in previous studies of nonsyndromic retinitis pigmentosa (RP). CONCLUSIONS: This study suggests that the kinetics of GVF decline in Usher syndrome type II are, on average, very similar to other forms of RP and that, once the disease becomes symptomatic, GVF deterioration follows stereotyped kinetics, even in patients with late-onset retinal disease.

Familial unilateral Brown syndrome.

PURPOSE: To report a family in which three siblings have unilateral late-onset Brown syndrome. METHODS: The entire nuclear family underwent ophthalmologic evaluation. Orbital imaging and systemic workup were obtained to rule out local or systemic causes. Historic information was obtained from unavailable family members. The family's Brown syndrome trait was analyzed for linkage to the known congenital fibrosis syndrome loci and the CFEOM2 gene, ARIX, was sequenced in affected individuals. RESULTS: All affected siblings developed left-sided Brown syndrome, worse on awakening, at 12-13 years of age. No evidence of Brown syndrome could be identified in other family members, either by exam or history. No abnormalities of the trochlear-tendon complex could be documented. Haplotype analysis of the Brown syndrome phenotype was consistent with recessive inheritance at the DURS1 locus and dominant inheritance with reduced penetrance at the DURS1, DURS2, and FEOM1 loci. No mutations were detected in CFEOM2 gene, ARIX. CONCLUSIONS: We propose that a genetically determined predisposition to Brown syndrome is likely responsible for the observed manifestations in this family and that late age of onset and intermittent manifestations do not distinguish acquired from hereditary Brown syndrome. The pattern of inheritance of the Brown phenotype in this family could be either autosomal recessive or autosomal dominant with reduced penetrance. Our analysis only permitted the exclusion of the FEOM3 locus and the FEOM2 gene, ARIX. Future genetic studies of additional Brown syndrome families should shed additional light on the genetic basis of this disorder.

Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene.

We report a case study of Fundus Albipunctatus (FA) due to compound heterozygous mutations in RDH5, the gene encoding for the 11-cis-retinal dehydrogenase (RDH). A 6-year old Hispanic American female with a clinical presentation suggestive of FA underwent dark-adapted full-field flash electroretinography (ERG) at 30 and 120 min. The pattern of ERG abnormalities was consistent with the working diagnosis FA. However, only ERG responses to dim stimuli were profoundly affected, and maximal ERG responses were already near normal after only 30 min of dark adaptation. The patient also demonstrated a subnormal maximal ERG response b/a-wave ratio at 30 min that resolved after 120 min of dark adaptation. When measurable, dark-adapted post-receptoral responses were normal in timing under all circumstances, and became increasingly faster after prolonged dark adaptation. Cone-driven responses were completely normal at this young age. Sequencing of the RDH5 gene revealed two distinct missense mutations, a G238W mutation, previously reported in patients with FA, and a D128N mutation, which has not been reported before but is known to cause reduced 11-cis-RDH activity. These findings confirmed the clinical and functional diagnosis of FA and excluded that of retinitis punctata albescens (RPA). The behavior of dark-adapted ERG responses in FA displays characteristics that differ from those of RPA patients, which may be useful to differentiate functionally these two conditions at their common albipunctate stages.