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 (L0.33, 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.

To develop a reproducible ex vivo model of corneal endothelial cell injury using phacoemulsification in porcine eyes and evaluate the effects of mesenchymal stromal cell secretome in this injury model.

Purpose To define the natural history,genotype‐phenotype correlation and differential diagnosis of the Brittle Cornea Syndrome (BCS),or Ehlers Danlos Syndrome (EDS) type VIB,caused by mutations in ZNF469 and PRDM5 Methods We evaluated one family in which 5 out of 8 siblings suffered from BCS. We performed complete eye and systemic evaluations of the siblings and their parents. We sequenced the candidate gene,ZNF469 Results On ocular evaluation we found keratoglobus and thinned corneas that tended to perforate spontaneously,as well as refractive errors caused by high myopia and irregular astigmatism. Progressive thinning of the corneas with keratoglobus led to visual deterioration due to spontaneous perforations and scarring. K readings were above 60 D and corneal thickness below 300um in 4 eyes that had not developed perforation. Systemic manifestations included joint hypermobility,increased elasticity of the skin but no cigarette paper scars, kyphoscoliosis,and progressive conductive hearing loss. Cardiovascular disease was not observed.The systemic findings overlap the kyphoscoliotic type of EDS VIA,the ocular manifestations of which consist of flattened corneal curvatures,fluid vitreous,radial perivascular lattice. Patients with BCS are often diagnosed as having the Marfan syndrome,even though spontaneous perforation of the cornea is not a feature of the latter condition. A 14bp insertion was found in exon 2 of ZNF469 Conclusion EDS VIB is a connective tissue disease referred to as BCS; it is characterized by keratoglobus,thinned corneas and Marfanoid body habitus. Two causative genes for BCS have been identified to date,ZNF469 and PRDM5. A 14bp insertion was found in exon 2 of ZNF469. It is possible to provide genetic counseling in the extended family

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 ophthalmlologic examination findings in a patient with Wolf-Hirschhorn syndrome, including external photography, RetCam3 (Clarity Medical Systems, Pleasonton, CA) goniography and fundus photography. We also 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.