Analysis of tear film in cystinosis patients treated with topical viscous cysteamine hydrochloride (Cystadrops®).

PURPOSE: The aim of this study was to evaluate in vivo the tear film in infantile nephropathic cystinosis patients with corneal crystals treated with topical viscous cysteamine hydrochloride (Cystadrops®). METHODS: Ten eyes of five patients with nephropathic cystinosis aged from 10 to 35 years were included in this study. The patients were under treatment with viscous cysteamine hydrochloride formulation containing 3.8 mg/mL cysteamine (vCH 0.55%, equivalent to 0.55% CH; Cystadrops®; Recordati rare Diseases, Puteaux, France) to reduce corneal crystal density. Five age and sex matched individuals were randomly selected as control group. Tear osmolarity testing (TearLabTM) was performed to assess the in vivo osmolarity of patients under treatment and compared to control group values. Tear film break-up time (TBUT) and basic tear secretion (Schirmer test) were also assessed. RESULTS: Mean tear osmolarity was 294.8 mOsms/L (±10.4), with a mean absolute difference of 1.85 mOsms/L (±2.13) between the eyes. There was no statistically significant difference between the osmolarity readings of cystinosis and the control group (294.8 ± 10.4 vs 299.4 ± 6.2mOsm/L, respectively; p = 0.39). The mean TBUT was 10.2 ± 0.83 s in the study group versus 10 ± 0.7 s in controls (p = 0.62). The mean Schirmer test score was 9.2 ± 0.83 mm in the patients versus 10.2 ± 0.83 mm in the controls (p = 0.14). CONCLUSIONS: The TearLabTM osmolarity system test showed good reliability and precision in repeated measurements. This is the first report using the TearLab osmolarity system to assess tear film in patients with cystinosis treated with vCH 0.55%. TearLabTM examination showed that the use of vCH 0.55% drops does not determine alterations of the tear film quality.

Treatment of Advanced Coats' Disease With Combination Therapy of Laser Photocoagulation, Intravitreal Ranibizumab, and Sub-Tenon Methylprednisolone Acetate.

PURPOSE: To investigate the efficacy of combination therapy with laser photocoagulation, intravitreal ranibizumab, and sub-Tenon methylprednisolone acetate in patients presenting with advanced Coats' disease. METHODS: This was a retrospective analysis of 16 patients who underwent laser photocoagulation combined with intravitreal ranibizumab and sub-Tenon methylprednisolone acetate between 2008 and 2017. The primary outcome was anatomic success and the secondary outcomes were globe preservation and final visual acuity. RESULTS: The average age at surgery was 5.12 ± 2.7 years (range: 3 to 10 years). The mean follow-up time was 45.43 ± 29.01 months (range: 12 to 108 months). Of the 16 patients (16 eyes) reviewed, 6 patients had stage 3A and 10 patients had stage 3B Coats' disease. The mean number of applications was 10 (range: 4 to 18). Globe preservation was achieved in all patients. Final visual acuity outcomes were satisfactory: 20/20 to 20/50 in 2 patients, 20/60 to 20/100 in 1 patient, and 20/200 or worse in 13 patients. CONCLUSIONS: Intravitreal ranibizumab used in combination with laser photocoagulation and sub-Tenon methylprednisolone acetate could be an effective treatment option for patients with advanced Coats' disease. The combined therapy achieved anatomical success, globe preservation, and reasonable visual acuity outcomes. [J Pediatr Ophthalmol Strabismus. 2022;59(3):187-191.].

Iontophoretic Transepithelial Collagen Cross-Linking Versus Epithelium-Off Collagen Cross-Linking in Pediatric Patients: 3-Year Follow-Up.

PURPOSE: To compare 3-year iontophoretic transepithelial corneal cross-linking (I-ON CXL) outcomes with epithelium-off collagen cross-linking (epi-off CXL) in pediatric patients. METHODS: Forty eyes of 28 consecutive pediatric patients [mean age 14.3 ± 2.5 (SD) years; range, 9-18 years] with keratoconus were evaluated. Twenty eyes of 15 patients underwent I-ON and 20 eyes of 13 patients epi-off CXL. Mean corrected distance visual acuity, spherical equivalent, maximum keratometry (Kmax), posterior elevation of the thinnest point, and thickness of the thinnest point were evaluated. The Student t test was used to compare baseline and postoperative data. Keratoconus progression as a function of preoperative Kmax and cone location was evaluated. RESULTS: At 36 months, corrected distance visual acuity statistically improved (from 0.18 ± 0.1 to 0.10 ± 0.1 logarithm of the minimum angle of resolution) in epi-off CXL, whereas spherical equivalent and posterior elevation of the thinnest point did not significantly change. Mean Kmax increased from the baseline +0.8 diopters (D) in epi-off and +2.9D in I-ON. In both groups, the thinnest point decreased. Keratoconus progression, defined by an increase of Kmax reading of the anterior corneal surface of at least 1.00D, occurred in 25% of epi-off and 50% of I-ON CXL over the 3-year period. Kmax value in I-ON, and cone location in both groups, seemed to be factors influencing the disease progression. CONCLUSIONS: In pediatric patients, 3 years after treatment, epi-off CXL halted keratoconus progression in 75% of eyes, whereas I-ON CXL seemed to slow down keratoconus progression in 50% of eyes, mainly in those with highest Kmax and paracentral cone.

Refractive outcome of keratoconus treated by big-bubble deep anterior lamellar keratoplasty in pediatric patients: two-year follow-up comparison between mechanical trephine and femtosecond laser assisted techniques.

BACKGROUND: To evaluate refractive outcome 24 months after Deep Anterior Lamellar Keratoplasty (DALK) in pediatric patients by comparing results achieved using mechanical trephine and femtosecond laser. METHODS: Twenty eyes of 20 patients affected by keratoconus were evaluated. To perform big-bubble DALK, 10 eyes (Group 1; mean age 11.2 ± 2.2 years) were subjected to the Hessburg-Barron mechanical trephine and the remaining 10 eyes (Group 2; mean age 11.3 ± 3.1 years) to a 150 kHz femtosecond laser that performed mushroom incisions. Preoperative thinnest point in the corneal thickness map and K readings were measured by the Sirius Scheimpflug camera. We also evaluated corrected distance visual acuity (CDVA) as logMAR value using spectacles, spherical equivalent and refractive astigmatism. RESULTS: Mean preoperative thinnest point and pre- and post-operative K readings did not show significant difference (P > 0.05) between the two groups. CDVA, spherical equivalent and refractive astigmatism were respectively, 0.14 ± 0.08 logMAR and 0.13 ± 0.10 logMAR (P = 0.8), - 4.2 ± 1.1 D and - 2.8 ± 1.2 D (P = 0.03), 4.4 ± 2.0 D and 3.6 ± 1.2 D (P = 0.4) in Groups 1 and 2. All DALK procedures were uneventful. CONCLUSION: Our findings suggest that femtosecond laser compared to mechanical trephine could significantly reduce the spherical equivalent amount in pediatric big-bubble DALK.

Surgical treatment of severe congenital ptosis using deep temporal fascia.

Purpose: To evaluate the surgical outcome of a frontalis sling using deep temporal fascia in the treatment of severe congenital ptosis (SCP). Methods: A retrospective, interventional case series was performed. The study involved 25 patients with SCP (>4 mm). All patients underwent frontalis sling surgery with deep temporal fascia between 2004 and 2012 with a follow-up period of 12 months at a minimum. Data regarding eyelid position, eyelid symmetry, cosmetic outcomes, and postoperative complications were evaluated. Results: The mean age at surgery was 7.68 years (range 4-17 years) with an average follow-up of 60 months (range is 12-108 months). The functional success rate was 88% (22/25). Ptosis recurred in 8% (2/25) of patients, overcorrection was present in 4% (1/25) of patients. The patients with ptosis recurrence underwent reoperation. The preoperative margin-to-reflex distance (MRD1) was -0.85±0.87 mm (range, -2.5 to + 0.5 mm), while the postoperative MRD1 was + 2.1 ± 1.05 mm (range, -1.5 to + 4 mm) (p < .0001). Lid symmetry (asymmetry < of 1 mm of MRD1 between the two eyes) was present in all the successful cases. Postoperative complications included transient exposure keratopathy (32%) and inflammatory brow reaction (8%). Conclusions: Frontalis sling operation with deep fascia temporalis is very effective in the treatment of SCP with excellent long-term functional and cosmetic successes.

Four years of corneal keratoplasty in Italian paediatric patients: indications and clinical outcomes.

PURPOSE: The purpose was to evaluate indications and clinical outcomes in paediatric corneal keratoplasty. METHODS: Fifty-four eyes of 43 patients who underwent corneal keratoplasty from the 1st of January 2010 through the 31st of December 2013 at the Bambino Gesù Children's Hospital in Rome, Italy, were retrospectively evaluated. To assess the effect of age on graft failure rate, the recipient age was considered as a dichotomous variable (≤5 or >5 years) and a 2X2 table was developed, using the chi-square test for testing the statistical significance. Furthermore, two separate subgroup analyses were conducted on patients of ≤5 years and those of >5 years, to evaluate the effect of penetrating keratoplasty (PK) or deep anterior lamellar keratoplasty (DALK) on the graft failure rate. The level of statistical significance was set at p < 0.05 RESULTS: Mean recipient age was 8.9 ± 5.7 [SD] years. Mean follow-up time was 22.8 months. Main preoperative diagnoses were keratoconus (37 %) and congenital glaucoma (20 %). Patients ≤5 years showed a higher percentage of graft failure (p = 0.0008). PK and DALK did not show statistically significant differences regarding the graft failure in both subgroups (p = 0.15 for ≤5 years group and p = 0.27 for >5 years group, respectively). However, across groups DALK provided a lower rate of graft failure. CONCLUSIONS: Our findings suggest that children older than 5 years show a significantly better graft outcome and that DALK seems to offer greatest benefits in terms of failure risk in paediatric patients.

The Big-Bubble Full Femtosecond Laser-Assisted Technique in Deep Anterior Lamellar Keratoplasty.

PURPOSE: To describe the big-bubble full femtosecond laser-assisted (BBFF) technique, which could be helpful in standardizing the big-bubble technique in deep anterior lamellar keratoplasty (DALK). METHODS: Ten eyes of 10 consecutive patients affected by keratoconus underwent the BBFF technique using the 150-kHz IntraLase femtosecond laser (Intra-Lase FS Laser; Abbott Medical Optics, Inc., Santa Ana, CA). A 9-mm diameter metal mask with a single fissure 0.7 mm wide oriented at the 12-o'clock position was positioned into the cone, over the laser glass. The laser performed a ring lamellar cut (internal diameter = 3 mm; external diameter = 8 mm) 100 µm above the thinnest point, with the photodisruption effectively occurring only in the corneal stroma corresponding to the fissure to create a deep stromal channel; subsequently, an anterior side cut created an arcuate incision, from the corneal surface to the deep stromal channel on the mask's opening site. The mask was removed and the laser performed a full lamellar cut 200 µm above the thinnest point to create a lamella. After the removal of the lamella, the air needle was inserted into the stromal channel and air was injected to achieve a big bubble. RESULTS: The big bubble was achieved in 9 eyes (all type 1 bubbles) and all procedures were completed as DALK. CONCLUSIONS: Preliminary results suggest that the BBFF technique could help in standardizing the big-bubble technique in DALK, reducing the "learning curve" for surgeons who approach this technique and the risks of intraoperative complications.

25-Gauge Pars Plana Vitrectomy for Retained Lens Fragments in Complicated Cataract Surgery.

PURPOSE: To verify the efficacy of 25-gauge pars plana vitrectomy (PPV) for the management of posteriorly dislocated lens material after complicated cataract extraction and to determine in what patients this approach offers the optimal benefit in terms of efficacy and safety, considering the amount of retained nuclear material and the duration of surgery. METHODS: Forty eyes of 40 patients with retained lens fragments undergoing early (within 1 week) or late (within >1 week) 25-gauge PPV were retrospectively reviewed. The amount of dislocated nuclear material was graded by the surgeon intraoperatively, and the patients were divided into two groups according to the nuclear grading: group A (≤50% dropped nucleus) and group B (>50% dropped nucleus). The presence of brunescent nuclear pieces was considered. The outcomes measured included best-corrected visual acuity (BCVA) and postoperative complications such as retinal detachment, cystoid macular edema (CME) and postoperative ocular hypertension or hypotonia. RESULTS: The patients had a mean age of 78 years. The mean preoperative logarithm of the minimum angle of resolution (logMAR) BCVA was 0.57 ± 0.24 (20/80). A significant positive correlation was found between nuclear material grade and PPV duration (R2 = 0.81, p < 0.0001). None of the patients had dislocation of brunescent nuclear pieces. On postoperative day 1, the mean postoperative intraocular pressure was 16.75 ± 2.7 mm Hg, with no case of ocular hypotonia. At 6 months of follow-up, the mean logMAR BCVA improved to 0.23 ± 0.3 (20/32). Retinal detachment developed in 4 patients (10%), occurring only in patients of group B (p < 0.002). Four patients with late PPV developed postoperative CME, with no case of CME among patients with early vitrectomy (p = 0.014). CONCLUSION: Removal of dislocated lens fragments after complicated cataract surgery can be effectively managed with 25-gauge PPV, although it appears to be most efficient for cases with a limited amount of dislocated lens material. In consideration of the higher rate of retinal detachment observed in cases of prolonged PPV time, the expected duration of surgery should be taken into account when choosing the best surgical approach. Visual outcomes are not affected by the timing of PPV, whereas early vitrectomy seems to prevent the onset of inflammatory macular edema.

Functional Loss of the Inner Retina in Childhood Optic Gliomas Detected by Photopic Negative Response.

PURPOSE: To determine whether the Ganzfeld ERG photopic negative response (PhNR), an assay of inner retinal activity, is altered in childhood optic glioma (OPG). METHODS: Seventeen pediatric patients with a diagnosis of OPG, established on neuro-ophthalmologic and brain/orbit magnetic resonance imaging (MRI) criteria, were enrolled. The examination protocol included determination of visual acuity (VA), fundus examination, retinal nerve fiber layer (RNFL) measurement with spectral-domain optical coherence tomography (SD-OCT) and photopic ERG. Fifteen normal children served as control group. Ten of the 17 OPG patients were retested 1 to 3 months after the first examination. Photopic ERGs were recorded after 10 minutes of light adaptation in response to a Ganzfeld flash presented on a steady light-adapting background. Amplitude and peak-time of b-wave and PhNR were measured. RESULTS: Compared with normal values, PhNR amplitude was significantly reduced (P < 0.0001) in the OPG group. Peak-time of PhNR as well as b-wave amplitude and peak-time were similar in both patients and controls. Losses of PhNR were found in patients with involvement of either anterior or retro-chiasmatic optic pathways. Linear regression analysis showed significant positive correlation between RNFL thickness and PhNR amplitude (r2 = 0.34, P = 0.008). Mean percentage test-retest difference for PhNR amplitude and peak-time was 12% and 6%, respectively. CONCLUSIONS: These findings indicate that flash ERG PhNR can detect a loss of inner retinal function in childhood OPGs supporting the use of this technique, as an adjunct to standard psychophysical and electrophysiological tests, to monitor visual function in OPG.

Improved sensory status and quality-of-life measures in adult patients after strabismus surgery.

PURPOSE: To evaluate the change in sensory status and quality-of-life measures in adults with long-standing childhood-onset constant strabismus. METHODS: Consecutive patients with childhood-onset, long-term constant strabismus were enrolled. Sensory status was examined with Bagolini striated glasses test and Worth 4-dot test. Stereopsis was tested with the Lang and TNO stereopsis tests. Quality of life was studied with 2 different questionnaires (Short Form Health Survey [SF-36] and the Amblyopia and Strabismus Questionnaire [A&SQ]), which patients completed before and 3 months after strabismus surgery. RESULTS: A total of 20 patients (age range, 18-63 years) were included, 10 of whom were esotropic and 10 of whom were exotropic. Of these, 13 obtained a satisfactory postoperative alignment and demonstrated an increase of sensory status with Bagolini striated glasses. Six patients who demonstrated suppression preoperatively achieved fusion and stereopsis postoperatively. The mean score in all domains of the A&SQ improved significantly, particularly with regard to social contact and cosmesis (P = 0.00067), distance estimation (P = 0.000312), and visual disorientation (P = 0.004777). Similarly, the mean score in 7 of 8 areas in the SF-36 improved significantly, particularly with regard to physical function (P = 0.000564), general health (P = 0.002296), vitality (P = 0.002891), social function (P = 0.004234), and mental health (P = 0.000334). The overall mean score of both questionnaires improved in all patients with a satisfactory postoperative alignment and increase of sensory status. CONCLUSIONS: Surgical treatment of strabismus in adults with long-standing childhood-onset constant strabismus can result in patients feeling that their quality of life has improved and can restore binocular sensory function.

Prevalence of neurological involvement and malformative/systemic syndromes in A- and V-pattern strabismus.

PURPOSE: To evaluate the prevalence of neurological involvement and malformative/systemic syndromes in A- and V-patterns with respect to other kinds of infantile concomitant strabismus. METHODS: A retrospective comparative study of 14,006 consecutive patients examined in the Pediatric Ophthalmology and Strabismus Unit at the Catholic University of Rome between January 2002 and February 2010 was carried out. A total of 2.72% (385) of patients presented with concomitant constant infantile strabismus associated with A- and V- patterns (study group; mean age 8 years; range: 8 months - 37 years; male 211, female 174). Another 377 consecutive patients affected by infantile concomitant strabismus without A- or V- patterns were used as controls (control group; mean age 9 years, range: 1-34 years; male 194, female 183). All patients underwent a complete ophthalmologic and orthoptic examination with ocular motility evaluation and prism cover test or the Hirschberg test in primary, up and down gaze positions, as well as cycloplegic retinoscopy. The angle of deviation was evaluated at near (33 cm) and distance fixation (6 m) with full correction of refraction. RESULTS: Neurological involvement and malformative/systemic syndromes were observed in 30.4% of the study group and in 19.8% of patients in the control group (P < 0.001). Patients with A-pattern showed a greater prevalence of neurological impairment, hydrocephalus and meningomyelocele, while those affected by V-pattern exhibited a greater prevalence of craniosynostosis and malformative syndromes. CONCLUSIONS: Neurological involvement and malformative/systemic syndromes seem to be more evident in patients presenting with A- and V-pattern strabismus.

Measurement of retinal nerve fiber layer thickness, macular thickness, and foveal volume in amblyopic eyes using spectral-domain optical coherence tomography.

Although the changes in the anatomy of the visual cortex and lateral geniculate nucleus as the result of amblyopia have been well documented, retinal involvement is still controversial. Time-domain optical coherence tomography with an axial resolution of 10 µm has been used to evaluate retinal and peripapillary tissues in amblyopic eyes with contradictory results. Spectral domain optical coherence tomography has a greater resolution (5-10 µm) and can determine retinal layers more precisely. Our purpose was assess by means of spectral domain optical coherence tomography whether the retinal nerve fiber layer thickness, macular thickness, and foveal volume of the amblyopic and the fellow eyes differ in patients with unilateral amblyopia. Intereye differences in these parameters were found to be insignificant.

A morpho-functional study of amblyopic eyes with the use of optical coherence tomography and microperimetry.

PURPOSE: To determine whether retinal nerve fiber layer thickness (RNFLT), macular thickness, foveal volume, macular sensitivity, and fixation in patients with amblyopia differ between the amblyopic eye and the fellow eye. METHODS: Optical coherence tomography (OCT) and microperimetry (MP-1) were used to evaluate patients with unilateral amblyopia. Patients were divided into 2 groups, those with strabismic amblyopia and those with refractive amblyopia. OCT maps were used to calculate foveal volume, macular thickness, and RNFLT; MP-1 was used to determine macular sensitivity and fixation. RESULTS: A total of 30 patients were included (13 males; mean age 19.7 years [range, 10-38 years]), 15 in each group. Mean best-corrected visual acuity was 20/35 (range, 20/50 to 20/32) in the amblyopic eye and 20/21 (range, 20/20 to 20/25) in the fellow eye. In both groups, mean foveal volume and RNFLT did not differ significantly between eyes. Only macular thickness in the strabismic group differed significantly between the amblyopic and fellow eyes (P = 0.03). Macular sensitivity was significantly greater in the fellow eye in both groups (strabismic group, P = 0.002; refractive group, P = 0.013), whereas fixation did not change significantly between the amblyopic and fellow eye. RNFLT and macular sensitivity was found to be significantly correlated (strabismic group, r = 0.84, P = 0.002; refractive group, r = 0.66, P = 0.02). CONCLUSIONS: Our data suggest that although RNFLT does not vary between eyes, macular sensitivity is reduced in patients with amblyopia.

Effect of vertical transposition of the medial rectus muscle on primary position alignment in infantile esotropia with A- or V-pattern strabismus.

PURPOSE: To determine the effect of vertical displacement of muscle insertions on the surgical dose-response relationship in patients undergoing bilateral medial rectus recessions. METHODS: Retrospective chart review of patients undergoing bilateral medial rectus recessions for correction of congenital esotropia with or without vertical displacement for A or V patterns. Patients were clustered into A pattern, V pattern, and "simple" (no pattern) groups. Strabismus angle at distance and near before and after surgery was recorded. Surgical dose-response relationships (in prism diopters/mm) were determined at the 6-month follow-up visit and compared. RESULTS: A total of 55 patients (28 male and 27 female patients; mean age, 6.9 years; range, 2-17 years) were included. Of these, 28 had either A pattern (18) or V pattern (10), and 27 were in the simple group. Mean preoperative angle of deviation was 34Δ at distance and 40Δ at near. The surgical dose-response relationship was significantly greater (at both distance and near) in the A pattern group (2.43Δ/mm, distance [p=0.005]; 2.76Δ/mm, near [p=0.04]) than in the simple group (1.56Δ/mm, distance; 2.03Δ/mm, near). The surgical response in the V pattern group (1.96Δ/mm, distance [p=0.34]; 2.03Δ/mm, near [p=0.94]) was not significantly different from the simple group. CONCLUSIONS: Upward displacement of the medial rectus muscles increased the surgical dose/response relationship in patients with A-pattern esotropia. A similar effect was not observed with downward displacement in patients with V-pattern strabismus. Surgeons should be aware of this enhanced response when planning surgery for A-pattern esotropia.

Ocular manifestations in Wolf-Hirschhorn syndrome.

INTRODUCTION: Wolf-Hirschhorn syndrome (WHS) multiple congenital anomalies/mental retardation is caused by partial deletion of the short arm of chromosome 4 and can be considered a contiguous gene syndrome, characterized by typical facial appearance, mental retardation, growth delay, and seizures. METHODS: We investigated the ocular defects in a population of 10 patients with WHS and analyzed the relationship between ocular findings and the extent of deletion on chromosome 4. RESULTS: The ocular abnormalities found included hypertelorism, strabismus, refractive errors, epicanthal folds, proptosis, downslanting palpebral fissures, microphthalmos, microcornea, iris coloboma, optic nerve coloboma, ocular cyst, ptosis, glaucoma, and nystagmus. Different breakpoints of the chromosomal rearrangement were observed in individual patients, ranging from 4p15.1 to 4p16.3, and the size of chromosomal deletion ranged from 2.6 to 26 million base pairs. CONCLUSIONS: Congenital glaucoma and colobomatous ocular cysts have rarely been described in WHS patients that were previously reported. In all cases exhibiting strabismus, an exodeviation was present. Comparing genotype with ocular phenotype, a relationship between the size of deletion and the severity of the ocular involvement was observed in all cases but one.