Congenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature.

BACKGROUND: Wolf-Hirschhorn syndrome is a rare genetic syndrome caused by a heterozygous deletion on chromosome 4p16.3 and is characterized by a "Greek warrior helmet" facies, hypotonia, developmental delay, seizures, structural central nervous system defects, intrauterine growth restriction, sketelal anomalies, cardiac defects, abnormal tooth development, and hearing loss. A variety of ocular manifestations may occur in up to 40% of patients. MATERIALS/METHODS: We report the genetic testing results, systemic findings, and complete ophthalmologic examination findings in a patient with Wolf-Hirschhorn syndrome, including external photography, RetCam3 (Clarity Medical Systems, Pleasonton, CA) goniography, and fundus photography. In addition, we review the literature on ocular manifestations of Wolf-Hirschhorn syndrome. RESULTS: Microarray analysis revealed an unbalanced translocation between 4p16.3-15.3 and Xp22.33-p22.2. Systemic findings included "Greek warrior helmet" facies, hypotonia, cleft palate, neonatal tooth eruption, talipes equinovarus, bilateral clinodactyly, clitoromegaly, partial agenesis of the corpus callosum, bilateral renal hypoplasia, and two atrial septal defects. Ocular findings included normal intraocular pressures and corneal diameters, large-angle exotropia, downward slanting of the palpebral fissures, absent eyelid creases, upper and lower eyelid retraction with shortage of the anterior eyelid lamellae, euryblepharon, lagophthalmos with poor Bell's reflex and exposure keratopathy, hypertelorism, Axenfeld's anomaly, megalopapillae, and cavitary optic disc anomaly. CONCLUSIONS: We describe the ocular phenotype of a patient with Wolf-Hirschhorn syndrome, including the rare descriptions and photographs of Axenfeld's anomaly, megalopapilla, and cavitary optic disc anomaly in this condition.

Biometry Characteristics in Adults and Children With Marfan Syndrome: From the Marfan Eye Consortium of Chicago.

PURPOSE: To report on the biometric findings of adults and children with Marfan syndrome (MFS) recruited from 2 annual National Marfan Foundation conferences (2012 and 2015). DESIGN: Cross-sectional study. METHODS: Subjects diagnosed with MFS by Ghent 2 nosology were included for analysis. Subjects were divided into "adults" (≥16 years of age) and "children" (5-15 years of age). Biometric data included values for refractive error, axial length (AL), corneal curvature, anterior chamber depth, lens thickness, and central corneal thickness. RESULTS: Of the 117 subjects evaluated, 74 (35 adults, 32 children, and 7 children <5 years of age) had a definite diagnosis of MFS and were included in the study. The AL was longer (25.25 ± 0.32 mm vs 24.24 ± 0.33 mm, P = .03) and the lens was thicker (3.94 ± 0.09 mm vs 3.62 ± 0.10 mm, P = .03) in adults. Both groups had flat corneas (average keratometry [Kmed] of 41.59 ± 0.35 diopters [D] in adults vs 40.89 ± 0.36 D in children, P = .17). A negative correlation was found between AL and Kmed (-0.33, P < .001). The corneas of patients with MFS with ectopia lentis (EL) were significantly flatter and with higher degree of corneal astigmatism compared to patients without EL (Kmed of 40.68 ± 0.31 D vs 41.75 ± 0.28 D, P < .01 and corneal astigmatism of 1.68 ± 0.16 D vs 1.13 ± 0.14 D, P = .01). CONCLUSIONS: Children with established MFS have flat corneas at least to the same degree as adults. Corneas of patients with MFS with EL are flatter and have a higher degree of corneal astigmatism. We strongly suggest that corneal parameters should be measured if MFS is suspected, especially in children that may not yet have developed EL.

Proteomic analysis of the hyaloid vascular system regression during ocular development.

We describe a proteomic approach to investigate the differential protein expression patterns and identify the physiologically relevant angiogenic and antiangiogenic factors involved in the hyaloid vascular system regression. Differentially expressed proteins were identified using two-dimensional gel electrophoresis followed by nanoflow chromatography coupled with tandem mass spectrometry. These proteins are expected to provide insight as to their function in the early maintenance and eventual regression of the hyaloid vascular system.

The characteristics and surgical outcomes of medial rectus recessions in Graves' ophthalmopathy.

PURPOSE: To evaluate the clinical characteristics and surgical outcomes of medial rectus (MR) recessions in patients with Graves' ophthalmopathy. PATIENTS AND METHODS: The clinical records of 32 patients with Graves' ophthalmopathy who underwent MR recessions with adjustable sutures for restrictive esotropia were reviewed. The clinical characteristics of patients, the size of the esodeviations, the limitations of ductions, the surgical doses, and observed responses to surgery were recorded and analyzed. Main outcome measures included the ratio of predicted to observed correction for MR recessions, improvement in ductions, and restoration of binocular status. RESULTS: The mean age of the 32 patients (20 women, 12 men) at surgery was 54.1+/-11.4 years. The mean duration of thyroid eye disease was 4.3+/-5.4 years (range, 1 to 24 years). The ratios of predicted to observed correction for esodeviations at distance and near, respectively, were 2.21+/-1.24 and 2.16+/-1.81 at the time of adjustment and 1.61+/-0.37 and 1.84+/-0.90 at final follow-up. The limitation of abduction improved from -2.3+/-1.3 to -0.75 +/-0.98. Binocular single vision was achieved in 73% of patients, and a further 10% of patients were able to fuse with prisms. A history of decompression was present in 75% of cases. Patients with a history of decompression had more restriction in abduction (-2.49 vs -1.78, P =.061), more frequently required bilateral surgery (75% vs 62.5%), and had a higher ratio of predicted to observed correction (1.71 -0.37 vs 1.37+/-0.28, P = .043). CONCLUSIONS: Patients with Graves' ophthalmopathy who undergo MR recession for restrictive esotropia are prone to undercorrection. A history of decompression is associated with a less favorable clinical outcome. Augmented surgery, adjustable sutures, or both are recommended for improved surgical outcomes.

Orbital dermoids in children.

Orbital dermoid cysts are benign congenital choristomas. They are common in pediatric population, developing adjacent to suture lines, most commonly located in antero-lateral fronto-zygomatic suture, and are slowly progressive. Complete surgical excision without rupture of cyst is the standard of care. Deep orbital cysts cause proptosis, require imaging, and may present a surgical challenge with a difficult approach. Rupture of the cyst leads to severe inflammatory reaction in surrounding tissues. Overall prognosis remains good with isolated reports of malignancy masquerading as dermoid cysts.

Amniotic membrane transplantation for the repair of severe conjunctival dehiscence after strabismus surgery with adjustable sutures.

PURPOSE: To evaluate the outcome of amniotic membrane transplantation (AMT) for the repair of severe conjunctival dehiscence that occurred during or after fornix-incision strabismus surgery with adjustable sutures. DESIGN: Retrospective, interventional case series. METHODS: Four patients in whom severe conjunctival dehiscence developed during or after strabismus surgery were treated with amniotic membrane grafts. The extent of conjunctival reepithelization over sclera, range of ocular motility, and patient comfort were evaluated immediately after the surgery and at 1, 2, and 4 weeks. RESULTS: The mean follow-up period was 16 weeks (range 4 to 28 weeks). Conjunctival dehiscence was detected 0 to 14 days after surgery. AMT was performed 0 to 14 days later. The conjunctival defect was reepithelized in all patients by the fourth postoperative week without evidence of scarring or restriction of motility. CONCLUSIONS: In the treatment of large conjunctival defects that may follow strabismus surgery, AMT may be an alternative to conservative management or primary conjunctival closure.

Mechanisms of disease: cataracts.

Studying the mechanisms that are responsible for the transparency of the lens we see that multiple factors are involved in the maintenance of lens clarity as well as in cataractogenesis. Is there a unifying mechanism? Since the function of the lens is the transmission of electromagnetic radiation in the visible spectrum, fundamental physical laws should apply. Attenuation of a light beam that passes through a medium happens by two major processes: absorption and scattering. In absorption, light energy is dissipated into heat as the result of energy-absorbing electronic transitions. In scattering, radiation is redirected away from the incident pathway, thereby reducing the transmitting power. Depending on the angular dependence of the scattered light, the wave front of the transmitted light is distorted. In the case of cataract, the primary factor is turbidity secondary to scattering. A perfectly uniform medium exhibits no light scattering; thus a continuous medium can scatter light only when it contains spatial fluctuations around the mean density governed by specific equations. These equations simply state that the amplitude of scattering is proportional to the Fourier amplitude of the density fluctuations in the medium [12]. Electron micrograph analysis using Fourier transformation has shows an increase in the fluctuation of spatial density of the opaque fiber [12,26,37,93]. Thus, all transparency mechanisms and all cataractogenic factors can be thought of as opposing effectors of spatial density fluctuation affecting scatter and antithetical producers of light absorbing moieties.