Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care.

Marfan syndrome (MIM: # 154700; MFS) is an autosomal dominant disease representing the most common form of heritable connective tissue disorder. The condition presents variable multiorgan expression, typically involving a triad of cardiovascular, eye, and skeletal manifestations. Other multisystemic features are often underdiagnosed. Moreover, the disease is characterized by age related penetrance. Diagnosis and management of MFS in the adult population are well-described in literature. Few studies are focused on MFS in the pediatric population, making the clinical approach (cardiac and multiorgan) to these cases challenging both in terms of diagnosis and serial follow-up. In this review, we provide an overview of MFS manifestations in children, with extensive revision of major organ involvement (cardiovascular ocular and skeletal). We attempt to shed light on minor aspects of MFS that can have a significant progressive impact on the health of affected children. MFS is an example of a syndrome where an early personalized approach to address a dynamic, genetically determined condition can make a difference in outcome. Applying an early multidisciplinary clinical approach to MFS cases can prevent acute and chronic complications, offer tailored management, and improve the quality of life of patients.

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.].

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.

ULTRASOUND MEASUREMENTS OF THE DISTANCE BETWEEN LIMBUS AND RETINAL BREAK IN EYES WITH MEDIA OPACITIES.

PURPOSE: To assess the reproducibility and accuracy of ultrasound (US) measurements in determining the distance between corneoscleral limbus and retinal break and its relation with the distance measured by indirect ophthalmoscopy, in patients undergoing a laser retinopexy procedure. METHODS: Forty-four patients with a single retinal break, scheduled for laser a retinopexy procedure (26 phakic patients and 18 pseudophakic patients), underwent 5 repeated measurements by high-resolution US and 3 measurements (at the time of the laser procedure, 1 and 3 months) by indirect ophthalmoscopy with scleral indentation of the corneoscleral limbus-retinal break distance with a caliper. RESULTS: In the phakic patients group, measurements ranged from 8.75 mm to 14.45 mm (12.56 ± 1.24, mean ± SD) and from 9.5 mm to 15 mm (12.35 ± 1.32) with US and indirect ophthalmoscopy, respectively. In the pseudophakic patients group, measurements ranged from 9.04 mm to 13.95 mm (11.88 ± 1.33) and from 8.5 mm to 13.2 mm (11.93 ± 0.99) with US and indirect ophthalmoscopy, respectively. The correlation coefficient was greater than 0.97. Measurement variability was very small. In phakic eyes, it was 0.13 ± 0.08 mm and 0.13 ± 0.07 mm with US and indirect ophthalmoscopy, respectively. In pseudophakic eyes, it was 0.12 ± 0.05 mm and 0.14 ± 0.05 mm with US and indirect ophthalmoscopy, respectively. US and indirect ophthalmoscopy measurements were not statistically different (Student's t-test, P = 1.71). The analysis of the variance among phakic and pseudophakic patients confirmed that measurements of the two groups do not differ significantly (Fisher's exact test, P = 0.16). The univariate analysis showed no significant difference in both US and indirect ophthalmoscopy measurements (ANOVA, P = 0.09) and between the two types of measurements and patient groups (ANOVA, P = 0.38). CONCLUSION: This study suggests relevant accuracy and reliability of US readings and provides the possibility of using this technique for localizing tears in eyes with media opacities by identifying the meridian and corneoscleral limbus-retinal break distance.

Successful long-term management of choroidal neovascularization secondary to angioid streaks in a patient with pseudoxanthoma elasticum: a case report.

INTRODUCTION: We describe the long-term effectiveness and tolerability of intravitreal vascular endothelial growth factor inhibitor ranibizumab in a patient with pseudoxanthoma elasticum with bilateral macular choroidal neovascularization secondary to angioid streaks. CASE PRESENTATION: A 54-year-old Caucasian man with history of heart disease presented with visual loss in his right eye. An examination revealed choroidal neovascularization and reduced visual acuity, while no abnormalities were seen in his left eye. He was diagnosed with angioid streaks associated with pseudoxanthoma elasticum. Off-label treatment with intravitreal bevacizumab once a month initiated in December 2007 was discontinued after 3 months due to lack of efficacy. In September 2008, the patient reported reduced visual acuity in his left eye and an examination revealed changes. Left eye treatment was initiated in October 2008 with a loading dose (three consecutive monthly intravitreal injections of ranibizumab 0.5mg/50 µL) followed by 0.5mg/50 µL followed by treatment as needed until May 2014. After 21 ranibizumab injections, an examination revealed angioid streaks and choroidal neovascularization in both eyes. His right eye showed retinal layer deterioration with outer limiting membrane and photoreceptor inner/outer segment junction involvement. His left eye had a smaller foveal scar, with other areas preserved. Visual acuity was stable in his treated left eye, but had deteriorated in his right eye. Ranibizumab treatment was well tolerated with no adverse events reported. CONCLUSIONS: In the present case, an as-needed regimen of ranibizumab after an initial loading dose, achieved maintenance of visual function and was well tolerated over a period of almost 6 years in a patient with pseudoxanthoma elasticum and high cardiovascular risk. As anti-vascular endothelial growth factor agents are associated with increased risk of systemic effects, particularly arterial thromboembolic events, following intravenous administration, the absence of serious thromboembolic or cardiovascular adverse events throughout the 6-year treatment period is particularly encouraging considering our patient's high cardiovascular risk status.

Sequential spectral domain optical coherence tomography imaging of an eye after successful removal of subfoveal perfluorcarbon liquid collection.

PURPOSE: To evaluate retinal restoration after subfoveal perfluorcarbon liquid (PFCL) bubble removal by means of autofluorescence, infrared, and spectral domain optical coherence tomography over 2 years of follow-up. METHODS: A 62-year-old patient underwent two 23-gauge vitrectomies in attempt to remove subretinal PFCL retained under the fovea secondary to retinal detachment surgery in the left eye. We assessed best-corrected visual acuity, fundus biomicroscopy, retinal imaging by autofluorescence, infrared, and spectral domain optical coherence tomography at the first observation of retained PFCL, 1 day after the first attempt of PFCL removal, and 1, 30, 90, and 180 days, and 2 years after the second successful removal surgery. RESULTS: The best-corrected visual acuity improved from 5 to 45 Early Treatment of Diabetic Retinopathy Study letters (1.0 to 0.2 logMAR units) at the end of follow-up. Spectral domain optical coherence tomography scans showed progressive reorganization of the outer limiting membrane and significant restoration of the inner/outer segment photoreceptors junction 2 years after surgery. CONCLUSION: Subfoveal PFCL is believed to cause photoreceptor damage in some eyes, probably because of mechanical compression. Innovative methods of imaging such as spectral domain optical coherence tomography and confocal scanning laser ophthalmoscope with infrared and autofluorescence, allow early and clear detection of subfoveal retained PFCL, as well as careful follow-up and easy differential diagnosis. Surgical removal leads to prompt retinal morphologic restoration and functional improvement enduring over time.

Spectral-domain optical coherence tomography in Irvine-Gass syndrome.

PURPOSE: To report longitudinal evaluation of morphology and function, by spectral-domain optical coherence tomography and Early Treatment Diabetic Retinopathy Study visual acuity, respectively, in patients with cystoid macular edema after cataract surgery (Irvine-Gass syndrome). METHODS: Fifteen eyes (15 patients) with a diagnosis of cystoid macular edema related to Irvine-Gass syndrome underwent ocular ophthalmologic examinations including Early Treatment Diabetic Retinopathy Study visual acuity and macular morphology assessment by spectral-domain optical coherence tomography. An observational period of 3 months after surgery was considered before starting therapy with oral acetazolamide and topical indomethacin. Patients' eyes were tested at baseline and at 3, 6, and 12 months posttreatment by spectral-domain optical coherence tomography and Early Treatment Diabetic Retinopathy Study visual acuity. Repeated measures analysis of variance was used to compare mean values. RESULTS: Mean (±SD) central macular thickness by spectral-domain optical coherence tomography was 530 (±98.1), 385.6 (±55.1), 339 (±32.3), and 316.2 (±27.0) µm at baseline, 3, 6, and 12 months of follow-up, respectively (P < 0.001). Mean (±SD) Early Treatment Diabetic Retinopathy Study visual acuity was 0.6 (±0.2), 0.2 (±0.1), 0.16 (±0.1), and 0.09 (±0.07) logarithm of the minimum angle of resolution at baseline, 3, 6, and 12-month follow-up, respectively (P < 0.001). Macular thickness changes were positively correlated (r = 0.75; P < 0.001) with visual acuity changes. Eyes with interruption of inner segment/outer segment junction at baseline (n = 3, 20%) showed a persistent damage of the photoreceptor junction and incomplete visual acuity recovery at the end of follow-up. CONCLUSION: Spectral-domain optical coherence tomography detects retinal findings, including photoreceptor inner segment/outer segment junction abnormalities that are correlated with visual acuity changes in treated patients with Irvine-Gass syndrome.