Long-term outcomes of intravenous fibrinolysis in central retinal artery occlusion.

Central retinal artery occlusion (CRAO) is an ophthalmologic emergency that can lead to irreversible loss of vision. Intravenous thrombolysis (IVT) has been used experimentally for its treatment. Our study aimed to evaluate the effect of emergency IVT on CRAO and its impact on visual acuity outcomes. We conducted a retrospective observational study of patients with CRAO. A total of 46 patients with CRAO were analysed; 16 patients received IVT treatment (IVT group) while 30 did not (no-IVT group). Seven patients from the IVT group received IVT early, within 4.5 hours (h) after the onset of symptoms (early-IVT), and 9 patients received it beyond this timeframe (late-IVT). The median time-to-hospital was 8.5 h: 3 h for the IVT group and 24 h for the no-IVT group. The median time-to-treatment was 5 h. The median outcome of visual acuity was 0.05 in the early-IVT, 0.025 in the late-IVT, and 0.01 in the no-IVT group. Among patients who received IVT early, 86% exhibited significant visual improvement. This improvement was four-fold greater compared to all other groups (p = 0.040), including the late-IVT (p = 0.011) and no-IVT groups (p = 0.023). No complications of the treatment were reported. Our study confirms that the administration of IVT treatment for CRAO within the 4.5-h time window is both safe and effective.

Risk of visual axis opacification in infants with and without primary IOL implantation after congenital cataract surgery performed during the first 4 months of age.

PURPOSE: The study evaluates the rate of postoperative formation of a pupillary membrane (PM) and posterior visual axis opacification (PVAO) in infants with and without primary IOL implantation during the first 4 months of infancy. METHODS: Medical records for 144 eyes (101 infants) operated between 2005 and 2014 were evaluated. A posterior capsulectomy and anterior vitrectomy were performed. Primary IOL implantation was performed in 68 eyes, while 76 eyes were left aphakic. There were 16 bilateral cases in the pseudophakic group and 27 in the aphakic group. The follow-up period was 54.3 ± 21.05 months and 49.1 ± 18.60 months, respectively. Fisher's exact test was used for statistical analysis. The two-sample t-test with equal variance was used to compare surgery age, follow-up period and time intervals of complications. RESULTS: The mean age of surgery was 2.1 ± 0.85 months in the pseudophakic and 2.2 ± 1.01 months in the aphakic group. PM was diagnosed in 40% pseudophakic and 7% aphakic eyes. A second surgery for PVAO was performed in 72% pseudophakic and 16% aphakic eyes. Both were significantly higher in the pseudophakic group. In the pseudophakic group, the number of PVAO was significantly higher in infants operated before 8 weeks of age compared to surgery age 9-16 weeks. The frequency of PM was not age-dependent. CONCLUSION: Although it remains feasible to implant an IOL during the primary surgery, even in very young infants, there should always be solid arguments for this decision since it puts the child at higher risk of repeated surgeries under general anaesthesia.

Long-term anatomical and functional outcomes of surgical treatment of retinal complications in children and adolescents with Stickler syndrome between 2004 and 2021.

BACKGROUND: Stickler syndrome (STL) is an inherited progressive connective tissue collagen disorder. STL is the most common hereditary cause of retinal complications, retinal tears, and the development of retinal detachment (RD) in childhood. The aim of the study was to evaluate the long-term anatomical and functional results of surgical treatment of retinal complications in children and adolescents affected by STL. METHODS: A retrospective, single-center study was performed a cohort of children with STL who underwent retinal surgery between 2004 and 2021. RESULTS: The study group consisted of nine children; the mean age at the time of the retinal tear with/without retinal detachment was 7.2 (2-10) years, and the mean follow-up period was 9.6 (5-16) years. Pathogenic variants COL2A1 (5 children) and COL11A1 (3 children) were confirmed in our cohort. In total, we operated on 13 eyes, 11 eyes with complicated RD and two eyes with multiple retinal defects, but without RD. At the end of the follow-up period, an attached retina was achieved 77% (10 eyes) with or without silicone oil tamponade: cryopexy alone was successful in one eye (10%), scleral buckling (EB) in five eyes (50%), and vitrectomy with silicone oil tamponade combined with EB in four eyes (40%). The mean number of surgeries was 2.3 per eye. The resulting best corrected visual acuity ranged from 0.03 to 0.1 in one eye, from 0.16 to 0.4 in two eyes, and from 0.5 to 1.0 in 7 eyes. CONCLUSION: Repair of retinal tears with/without retinal detachment in patients with Stickler syndrome often requires multiple surgeries with combinations of cryopexy, scleral buckling, and/or vitrectomy with silicone oil tamponade. Treatment of the ocular complications arising from STL requires long-term comprehensive care.

Anterior Chamber Iris-Fixated Phakic Intraocular Lens Implantation for Treatment of High Anisometropia in Children: Long-term Results.

PURPOSE: To evaluate the long-term efficacy of anterior chamber iris-fixated phakic intraocular lens (PIOL) implantation in the treatment of high myopic (> -9.00 diopters [D]) or hyperopic (> +6.00 D) anisometropia in children with intolerance to spectacles or contact lenses. METHODS: A total of 58 children with anisometropic myopia (range: -9.25 to -18.50 diopters [D]) and 13 children with anisometropic hyperopia (range: +6.00 to +8.50 D) underwent unilateral iris-claw PIOL implantation from 2008 to 2018. The mean age was 6.7 years. The mean follow-up was 38.5 months. Target refraction was emmetropia. RESULTS: The cycloplegic refraction (mean spherical equivalent) improved from -12.47 D (range: -9.25 to -18.50 D) to -0.73 D (range: +0.75 to -1.50 D) in myopic eyes and reduced from +7.15 D (range: +6.00 to +8.50 D) to +0.94 D (range: -0.50 to + 1.75 D) in hyperopic eyes. Eighty-four percent of eyes were corrected to within ±1.00 D of emmetropia. The mean uncorrected distance visual acuity (UDVA) improved from 1.74 ± 0.36 to 0.45 ± 0.28 logarithm of the minimum angle of resolution (logMAR) (P = .0014). The mean corrected distance visual acuity (CDVA) changed from 0.68 ± 0.32 to 0.27 ± 0.15 logMAR (P = .02179). The safety index was 2.18 and the efficacy index was 1.51. The mean preoperative endothelial cell count of 2,874.7 cells/mm2 changed to 2,685.3 cells/mm2 at 2 to 6 years postoperatively. Binocular vision quality was improved in 55 patients. No patient had serious complications or lost any Snellen lines of CDVA. CONCLUSIONS: Iris-fixated PIOL implantation is an effective and safe method in the treatment of high anisome-tropic myopia and hyperopia and amblyopia in pediatric patients who are noncompliant with spectacles or contact lenses. [J Pediatr Ophthalmol Strabismus. 2023;60(3):203-209.].

Trends in Neonatal Ophthalmic Screening Methods.

Neonatal ophthalmic screening should lead to early diagnosis of ocular abnormalities to reduce long-term visual impairment in selected diseases. If a treatable pathology is diagnosed within a few days after the birth, adequate therapy may be indicated to facilitate the best possible conditions for further development of visual functions. Traditional neonatal ophthalmic screening uses the red reflex test (RRT). It tests the transmittance of the light through optical media towards the retina and the general disposition of the central part of the retina. However, RRT has weaknesses, especially in posterior segment affections. Wide-field digital imaging techniques have shown promising results in detecting anterior and posterior segment pathologies. Particular attention should be paid to telemedicine and artificial intelligence. These methods can improve the specificity and sensitivity of neonatal eye screening. Both are already highly advanced in diagnosing and monitoring of retinopathy of prematurity.

Novel disease-causing variants and phenotypic features of X-linked megalocornea.

PURPOSE: The aim of the study was to describe the phenotype and molecular genetic causes of X-linked megalocornea (MGC1). We recruited four British, one New Zealand, one Vietnamese and four Czech families. METHODS: All probands and three female carriers underwent ocular examination and Sanger sequencing of the CHRDL1 gene. Two of the probands also had magnetic resonance imaging (MRI) of the brain. RESULTS: We identified nine pathogenic or likely pathogenic and one variant of uncertain significance in CHRDL1, of which eight are novel. Three probands had ocular findings that have not previously been associated with MGC1, namely pigmentary glaucoma, unilateral posterior corneal vesicles, unilateral keratoconus and unilateral Fuchs heterochromic iridocyclitis. The corneal diameters of the three heterozygous carriers were normal, but two had abnormally thin corneas, and one of these was also diagnosed with unilateral keratoconus. Brain MRI identified arachnoid cysts in both probands, one also had a neuroepithelial cyst, while the second had a midsagittal neurodevelopmental abnormality (cavum septum pellucidum et vergae). CONCLUSION: The study expands the spectrum of pathogenic variants and the ocular and brain abnormalities that have been identified in individuals with MGC1. Reduced corneal thickness may represent a mild phenotypic feature in some heterozygous female carriers of CHRDL1 pathogenic variants.

Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant.

BACKGROUND: The aim of the study was to identify the molecular genetic cause of two different Mendelian traits with ocular involvement present in the members of a single consanguineous Czech Roma family. METHODS: We have performed ocular examination and review of medical records in two individuals diagnosed with nanophthalmos (proband and her father) and one individual followed for bilateral congenital cataract and microcornea (uncle of the proband). DNA of subjects with nanophthalmos was analysed by exome sequencing. Sanger sequencing was applied for targeted screening of potentially pathogenic variants and to follow segregation of identified variants within the family. RESULTS: A homozygous variant c.1509G>C; p.(Met503Ile), in PRSS56 was found in the two individuals affected with nanophthalmos. The change was absent from the gnomAD dataset, but two out of 118 control Roma individuals were also shown to be heterozygous carriers. Analysis of single nucleotide polymorphisms in linkage disequilibrium with the c.1509G>C in PRSS56 suggested a shared chromosomal segment. The nanophthalmos phenotype, characterized in detail in the younger individual, encompassed bilateral corneal steepening, retinal folds, buried optic head drusen, and restricted visual fields, but no signs of retinal dystrophy. A known pathogenic founder CTDP1 variant c.863+389C>T in a homozygous state was identified in the other family member confirming the suspected diagnosis of congenital cataracts, facial dysmorphism, and demyelinating neuropathy syndrome. CONCLUSIONS: Herein, we report the first occurrence of nanophthalmos in the Roma population. We have identified pseudodominant inheritance for this phenotype caused by a novel variant in PRSS56, representing a possible founder effect. Despite advances in genetic technologies such as exome sequencing, careful phenotype evaluation in patients from an isolated population, along with an awareness of population-specific founder effects, is necessary to ensure that accurate molecular diagnoses are made.

Frequency of Complications During Preparation of Corneal Lamellae Used in Posterior Lamellar Keratoplasty Using the Pneumodissection Technique (Big Bubble).

PURPOSE: To determine the frequency of formation of various types of bubbles and the potential impact of donor and lamella parameters on this frequency, and to identify possible risk factors of unsuccessful "big-bubble" creation in preparation of pre-Descemet endothelial keratoplasty and Descemet membrane endothelial keratoplasty with peripheral stromal support. METHODS: Donor age and sex, death to preservation time (DPT), storage time, presence of corneal scars (mainly a condition after cataract surgery), and endothelial cell density of 256 donor corneas were assessed before Descemet membrane endothelial keratoplasty with peripheral stromal support or pre-Descemet endothelial keratoplasty lamella preparation using the big-bubble technique. RESULTS: Mean donor age was 62.3 ± 8.5 years (28.3% women and 71.7% men). Mean endothelial cell density of the donor graft was 2866 ± 255 cells/mm. Mean DPT was 10.12 ± 4.88 hours, and mean storage time of the transplant before surgery was 6.5 ± 4.8 days. Corneal scars were present in 17 donor grafts (6.6%) after cataract surgery. Eleven corneas were devalued because of Descemet membrane rupture during preparation (4.3%). In 182 corneas, standard bubble type I was created (71.7%); in 27 corneas, bubble type II was created; eventually, both types of bubbles formed simultaneously (10.5%); in 47 corneas, no bubble was created (18.4%). CONCLUSIONS: We identified higher endothelial cell density, shorter DPT, and the presence of corneal scars after cataract surgery as risk factors threatening successful bubble formation. The only risk factor for creating type II bubbles was higher donor age in our study.

Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease.

We observed bilateral cataracts on second trimester ultrasound, in two consecutive pregnancies, with no other structural defects detected. The parents were unrelated and had no family history for the disease. The first pregnancy was terminated in week 22. Copy number variation analysis revealed, in both the aborted fetus and the mother, a 495 kb duplication at 22q11.23 encompassing CRYBB3 and CRYBB2, and not present in variation databases. In the second pregnancy, lens hyperechogenicity was detected by ultrasound at week 13 and 4 days. The identical duplication at 22q11.23 was found in the fetus and considered as possibly pathogenic. At weeks 22 and 30, smaller orbit measurements were elucidated on ultrasound, raising concerns as to the underlying molecular genetic cause, necessitating further investigation. Whole-exome sequencing, using DNA of the first fetus, was performed shortly after the birth of a male child, and two truncating RAB3GAP1 mutations were detected: c.538G>T; p. (Glu180*) and c.943C>T; p. (Arg315*). Neither mutation has been previously reported to be disease-causing; however, evaluation in the context of previously published literature indicated their deleterious nature, implying a clinical diagnosis of Warburg micro syndrome or Martsolf syndrome. Sanger sequencing confirmed segregation of the two mutations within the family, consistent with autosomal recessive inheritance. The child born from the second pregnancy showed features typical of Warburg micro syndrome, with the exception of microcephaly, at age 31 months. © 2016 Wiley Periodicals, Inc.

The retinal nerve fibre layer thickness in glaucomatous hydrophthalmic eyes assessed by scanning laser polarimetry with variable corneal compensation in comparison with age-matched healthy children.

PURPOSE: To compare the thickness of the retinal nerve fibre layer (RNFL) in hydrophthalmic glaucomatous eyes in children with age-matched healthy controls using scanning laser polarimetry with variable corneal compensation (GDxVCC). METHODS: Twenty hydrophthalmic eyes of 20 patients with the mean age of 10.64 ± 3.02 years being treated for congenital or infantile glaucoma were included in the analysis. Evaluation of RNFL thickness measured by GDxVCC in standard Temporal-Superior-Nasal-Inferior-Temporal (TSNIT) parameters was performed. The results were compared to TSNIT values of an age-matched control group of 120 healthy children published recently as referential values. The correlation between horizontal corneal diameter and RNFL thickness in hydrophthalmic eyes was also investigated. RESULTS: The mean ± SD values in TSNIT Average, Superior Average, Inferior Average and TSNIT SD in hydrophthalmic eyes were 52.3 ± 11.4, 59.7 ± 17.1, 62.0 ± 15.6 and 20.0 ± 7.8 µm, respectively. All these values were significantly lower compared to referential TSNIT parameters of age-matched healthy eyes (p = 0.021, p = 0.001, p = 0.003 and p = 0.018, respectively). A substantial number of hydrophthalmic eyes laid below the level of 5% probability of normality in respective TSNIT parameters: 30% of the eyes in TSNIT average, 50% of the eyes in superior average, 30% of the eyes in inferior average and 45% of the eyes in TSNIT SD. No significant correlation between enlarged corneal diameter and RNFL thickness was found. CONCLUSIONS: The mean values of all standard TSNIT parameters assessed using GDxVCC in hydrophthalmic glaucomatous eyes in children were significantly lower in comparison with referential values of healthy age-matched children.

Central corneal thickness in microphthalmic eyes with or without history of congenital cataract surgery.

PURPOSE: To determine the central corneal thickness (CCT) in microphthalmic aphakic or pseudophakic eyes as well as in microphthalmic eyes without any history of eye surgery. METHODS: Thirty-two patients with a mean age of 6.41±5.24 years after congenital cataract surgery with absolute microcornea, i.e., horizontal corneal diameter (HCD)<10 mm, or relative microcornea, i.e., HCD 10-11 mm but in the affected eye at least 0.5 mm smaller compared to the fellow eye, formed group A. Thirteen patients of mean age 0.94±1.22 years with absolute or relative microcornea plus another developmental anomaly of an eye without any history of eye surgery formed group B. The patients with corneal edema or scars were excluded. The control group consisted of 124 healthy school-aged children. Horizontal corneal diameter was measured with caliper and CCT with an ultrasound pachymeter. In infants, these measurements were performed under general anesthesia. RESULTS: In 48 eyes in group A and in 16 eyes in group B, the mean CCT was 635.13±65.35 µm and 642.31±93.07 µm, respectively, which was significantly greater (p<0.0001 and p=0.0018) in comparison with the mean CCT (553.58±33.12 µm) in the control group. Regression curve demonstrated the significant increase of CCT values along with the decrease of HCD in microphthalmic eyes. CONCLUSIONS: Small corneas in microphthalmic eyes either with or without congenital cataract surgery have significantly higher CCT. The results demonstrate significant negative correlation between horizontal corneal diameter and CCT.

The occurrence and features of the atypical birefringence pattern in scanning laser polarimetry using GD × VCC in healthy children and its impact on the retinal nerve fiber layer thickness values.

PURPOSE: To investigate the occurrence and features of the atypical birefringence pattern (ABP) images in scanning laser polarimetry with variable corneal compensation (GD×VCC) in healthy children and to assess their impact on the values of the retinal nerve fiber layer (RNFL) thickness. METHODS: GD×VCC scans in 120 healthy white school-aged children with mean age ± standard deviation (SD) 12.85 ± 3.0 years were evaluated using typical scan score (TSS) calculation and by subjective grading of the scans. Statistical analysis including the impact of ABP on the RNFL thickness in GD × VCC Temporal-Superior-Nasal-Inferior-Temporal (TSNIT) parameters was done. RESULTS: The ABP was found in 18 out of 120 patients (15%) at cut-off value of TSS <80. Subjective evaluation of the scans raised the frequency of ABP to 20% of patients. The mean ± SD values of TSNIT Average, Superior Average, and Inferior Average in 26 eyes with ABP versus 214 eyes with normal birefringence pattern were 66.99 ± 7.29 µm versus 58.00 ± 6.22 µm (P = 7.2E to -11), 78.43 ± 9.27 µm versus 72.33 ± 8.72 µm (P = 0.001) and 80.87 ± 12.01 µm versus 70.00 ± 10.20 µm (P = 0.000001), respectively. The same comparison in TSNIT SD showed minimal difference and was 25.42 ± 5.84 µm versus 26.41 ± 4.81 µm (P = 0.41). CONCLUSIONS: The occurrence of ABP in children is not rare and may significantly distort the measured values of the RNFL thickness in TSNIT parameters using GD × VCC.

Retinal nerve fiber layer assessment in healthy children using scanning laser polarimetry with variable corneal compensation.

PURPOSE: To assess the normative data of the retinal nerve fiber layer (RNFL) thickness in healthy children using the scanning laser polarimeter with variable corneal compensation (GDxVCC). METHODS: Of the 186 enrolled white school-aged children, 120 subjects of the mean 12.85 +/- 3.0 years (age +/- SD) fulfilled inclusion criteria. After complete ophthalmic examination, including GDxVCC, 240 normal eyes were analyzed. Evaluation of RNFL thickness in GDxVCC temporal-superior-nasal-inferior-temporal (TSNIT) parameters was performed, and probability of normality was calculated. The influence of sex and age was investigated. RESULTS: The mean +/- SD values in TSNIT Average, Superior Average, Inferior Average, and TSNIT SD were 58.98 +/- 6.92 microm, 72.99 +/- 8.97 microm, 71.18 +/- 10.92 microm, and 26.30 +/- 4.92 microm. The values of 5% probability of normality in the same order were 47.6 microm, 58.2 microm, 53.2 microm, and 18.2 microm. The mean values of Inferior Average and TSNIT SD were greater in left eyes by 1.84 +/- 6.6 microm (p = 0.003) and by 3.04 +/- 3.8 microm (p < 0.00005), respectively. No correlation to sex and age was found. CONCLUSIONS: RNFL thickness assessed using GDxVCC was greater in children compared with previous published data in healthy adults. The values of Inferior Average and TSNIT SD were significantly greater in left eyes.