Sclera color enhances gaze perception in humans.

Gaze perception is an essential behavior that allows individuals to determine where others are directing their attention but we know relatively little about the ways in which eye morphology influences it. We therefore tested whether eyes with conspicuous morphology have evolved to facilitate gaze perception. During a visual search task, we recorded the eye movements of human participants (Homo sapiens) as they searched for faces with directed gaze within arrays of faces with averted gaze or the reverse; the faces were large and upright, small and upright, or large and inverted. The faces had sclera that were conspicuous (white or colored lighter than the iris color) or inconspicuous (colored the same or darker than the iris color). We found that participants were fastest and most accurate in finding the faces with conspicuous sclera versus inconspicuous sclera. Our results demonstrate that eyes with conspicuous morphology facilitate gaze perception in humans.

A review of syndromes associated with blue sclera, with inclusion of malformations of the head and neck.

Blue sclera is attributed to a diversity of mechanisms, mostly arising in genetic syndromes and, to a lesser extent, in nongenetic disorders and may occur as a side effect of medication intake. A literature search was conducted to establish a database of blue scleral associations. This article represents the most comprehensive assemblage of etiopathologies coincidental with blue sclera, comprising 66 genetic syndromes, 8 disorders, and 4 pharmacologically induced pigmentations. To increase the knowledge regarding the clinical significance of blue sclera, summaries of the systemic and oral maxillofacial comorbidities are provided. Recognition of the presence of blue sclera is important as it could prompt a timelier and more thorough diagnostic evaluation of possible systemic and dental malformations, potentially improving clinical outcomes.

SCLERAL PITS IN CHOROIDEREMIA: Implications for Retinal Gene Therapy.

PURPOSE: We report a novel finding on spectral domain optical coherence tomography in patients with choroideremia, which we describe as scleral pits (SCPs). METHODS: Cross-sectional observational case series of 36 patients with choroideremia, who underwent ophthalmic examination and multimodal imaging, including optical coherence tomography of the macula. Optical coherence tomography images were reviewed for SCP, which were defined as discrete tracts of hyporeflectivity that traverse the sclera with or without the involvement of Bruch membrane, retinal pigment epithelium, and retina. Unpaired two-tailed t-test with Welch correction was used for statistical analysis. RESULTS: Of the 36 patients, 19 had SCP in at least one eye. Scleral pits were confined to areas of advanced chorioretinal degeneration and never involved the foveola. Type 1 SCP affected only the sclera, whereas Type 2 SCP also involved the Bruch membrane and the retinal pigment epithelium. Type 3 SCP additionally had a full-thickness retinal defect. Patients with SCP were significantly older (51 ± 2 vs. 33 ± 4 years; P < 0.05) and had lower best-corrected visual acuity (20/160 vs. 20/30 or 0.9 ± 0.2 vs. 0.2 ± 0.07 logarithm of the minimum angle of resolution; P < 0.05) than patients without SCP. Patients with SCP had a greater myopic refractive error compared with patients without SCP (-2.6 ± 0.5 vs. -0.3 ± 0.5D; P < 0.05), but there was no significant correlation between the number of SCPs with refraction. Short posterior ciliary arteries were observed to enter the eye through one Type 3 SCP. CONCLUSION: Scleral pits are, to the best of our knowledge, a novel optical coherence tomography finding in advanced choroideremia that likely represents the abnormal juxtaposition of penetrating short posterior ciliary arteries with the retina.

Congenital keratoglobus with blue sclera in two siblings with overlapping Marshall/Stickler phenotype.

We aimed to describe congenital keratoglobus with blue sclera in two siblings with overlapping Marshall/Stickler phenotype. Two sisters (ages four and six) with bilateral high astigmatism were evaluated by slit-lamp microscopy. Corneal topography and pachymetry maps were also obtained. Slit-lamp examination revealed that both corneas were globular in shape with peripheral corneal thinning. Pachymetry maps showed diffuse corneal thinning. Two siblings had in common the features of keratoglobus, blue sclera, atypical face, hearing loss, and hypermobile joints. We tentatively diagnosed the sisters as having an overlapping Marshall-Stickler phenotype based on clinical and radiological findings. Marshall-Stickler syndrome may exist in the differential diagnosis of keratoglobus with blue sclera.

Escleritis posterior: a propósito de un caso / Posterior scleritis: a propos of a case

Las enfermedades inflamatorias de la esclera son infrecuentes. Involucran tanto la esclera como la epiesclera y se caracterizan por su cronicidad, dolor y por ser una causa potencial de ceguera. Su asociación con enfermedades sistémicas, frecuentemente de causa autoinmune, y la aparición de graves complicaciones oculares, conllevan una terapia sistémica agresiva con antinflamatorios no esteroideos, corticoesteroides y agentes inmunosupresores, los cuales se pueden utilizar solos o combinados. Presentamos el caso de un paciente masculino de 37 años de edad quien acudió al Cuerpo de Guardia por dolor ocular intenso, asociado a ojo rojo, disminución de la agudeza visual y cifras elevadas de tensión ocular del ojo derecho, a quien le fue diagnosticada una escleritis posterior(AU)

The inflammatory diseases of the sclera are uncommon. They involve both the sclera and the episclera and are characterized by chronic nature, pain and potential cause of blindness. Their association with systemic diseases, frequently autoimmune ones, and the occurrence of serious ocular complications lead to applying aggressive systemic therapy with non-steroid antinflammatory drugs, corticosteroids and immunosuppressive agents, which can be administered alone or combined. This is a 37 years-old patient who went to the emergency service because he suffered intense ocular pain associated to red eyes, reduction of visual acuity and high ocular pressure values in his right eye. He was finally diagnosed with posterior scleritis(AU)

Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations.

Osteogenesis imperfecta (OI) type I is a hereditary disorder of connective tissue (HDCT) characterized by blue or gray sclerae, variable short stature, dentinogenesis imperfecta, hearing loss, and recurrent fractures from infancy. We present four examples of OI type I complicated by valvular heart disease and associated with tissue fragility. The diagnosis of a type I collagen disorder was confirmed by abnormal COL1A1 or COL1A2 gene sequencing. One patient was investigated with electrophoresis of collagens from cultured skin fibroblasts, showing structurally abnormal collagen type I, skin biopsy showed unusual histology and abnormal collagen fibril ultra-structure at electron microscopy. The combined clinical, surgical, histological, ultra-structural, and molecular genetic data suggest the type I collagen defect as contributory to cardiac valvular disease. The degree of tissue fragility experienced at cardiac surgery in these individuals, also reported in a small number of similar case reports, suggests that patients with OI type I need careful pre-operative assessment and consideration of the risks and benefits of cardiac surgery.

Dysfunctional uveoscleral pathway in a rat model of congenital glaucoma.

UNLABELLED: The purpose of the study was to investigate the presence of the uveoscleral pathway in the normotensive rat (NR) and in a rat model of congenital glaucoma (CGR). We injected the fluorescent tracer 70-kDa dextran rhodamine B in the anterior chamber of four NRs and four CGRs. At 10 and 60 minutes after injection, rats were euthanized by CO2 inhalation and eyes were enucleated. Cryosections were prepared and analyzed using fluorescent microscopy. Hematoxylin-eosin staining and electron microscopy of the anterior chamber angle (ACA) were performed. At 10 minutes after injection, fluorescent tracer was detected in the iris root and ciliary processes of NRs and CGRs. At 60 minutes, NRs showed prominent signal in the suprachoroidal, whereas, in the CGRs, tracer was barely detectable. Histology of the anterior chamber revealed the presence of an open ACA and electron microscopy confirmed the normal structure of the ciliary body in CGRs. CONCLUSIONS: Our results document the presence of an uveoscleral pathway in the normotensive rat. The rat model of congenital glaucoma shows severe impairment of the uveoscleral pathway, suggesting that alterations of the uveoscleral outflow might play a role in the pathogenesis of CG.

Morning glory disc anomaly: characteristic MR imaging findings.

SUMMARY: Establishing the diagnosis of morning glory disc anomaly is crucial to appropriate patient treatment. Although typically made clinically, the diagnosis is not always straightforward, especially in circumstances where physical examination is limited. The goal of this study was to define the spectrum and frequency of orbital findings in a series of patients with funduscopically-confirmed morning glory disc anomaly by using MR imaging. MR imaging demonstrated 3 findings in all patients: 1) funnel-shaped morphologic pattern of the posterior optic disc with elevation of the adjacent retinal surface; 2) abnormal tissue associated with the distal intraorbital segment of the ipsilateral optic nerve, with effacement of the regional subarachnoid spaces; and 3) discontinuity of the uveoscleral coat. These findings were not observed in any of the unaffected globes of the study patients. In summary, these consistent and characteristic findings of morning glory disc anomaly should allow for accurate differentiation from other ocular anomalies and have the potential to guide appropriate management of this patient population.

Flt1 and Flk1 mediate regulation of intraocular pressure and their double heterozygosity causes the buphthalmia in mice.

Flt1 and Flk1 are receptor tyrosine kinases for vascular endothelial growth factor-A which play a crucial role in physiological and pathological angiogenesis. To study genetic interaction between the Flt1 and Flk1 genes, we crossed between Flt1 and Flk1 heterozygous (Flt1(+/-) and Flk1(+/-)) mice. We found that Flt1; Flk1 double heterozygous (Flt1(+/-); Flk1(+/-)) mice showed enlarged eyes similar to the buphthalmia detected in human congenital glaucoma with elevation of intraocular pressure (IOP). Actually, IOP was elevated in Flt1(+/-); Flk1(+/-) mice and also in Flt1 or Flk1 single heterozygous mice. However, none of these mutants showed hallmarks of glaucoma such as ganglion cell death and excavation of optic disc. To clarify the pathological causes for enlarged eyes and elevated IOP, we investigate the mice from matings between Flt1(+/-) and Flk1(+/-) mice. Flt1(+/-) mice showed enlarged Schlemm's canal and disordered collagen fibers in the sclera, whereas Flk1(+/-) mice showed atrophied choriocapillaris in the choroid. These tissues are a part of the main outflow and alternative uveoscleral outflow pathway of the aqueous humor, suggesting that these pathological changes found in Flt1(+/-) and Flk1(+/-) mice are associated with the buphthalmia in Flt1(+/-); Flk1(+/-) mice.

Brown syndrome with bifid scleral insertion of the superior oblique.

The authors describe a patient with bilateral congenital Brown syndrome who had bifid scleral insertion of the superior oblique muscle of both eyes. They considered bifid scleral insertion of the superior oblique muscle as a possible cause of congenital Brown syndrome.

Clinical and research applications of anterior segment optical coherence tomography - a review.

Optical coherence tomography (OCT) is being employed more and more often to image pathologies and surgical anatomy within the anterior segment, specifically in anterior chamber biometry, corneal pachymetric mapping, angle evaluation and high-resolution cross-sectional imaging. The cross-sectional imaging capability of OCT is similar to ultrasound, but its higher resolution allows OCT to measure and visualize very fine anatomic structures. No contact is required. In this review, we describe the utility and limitations of anterior segment OCT.

Indian hedgehog signaling from endothelial cells is required for sclera and retinal pigment epithelium development in the mouse eye.

The development of extraocular orbital structures, in particular the choroid and sclera, is regulated by a complex series of interactions between neuroectoderm, neural crest and mesoderm derivatives, although in many instances the signals that mediate these interactions are not known. In this study we have investigated the function of Indian hedgehog (Ihh) in the developing mammalian eye. We show that Ihh is expressed in a population of non-pigmented cells located in the developing choroid adjacent to the RPE. The analysis of Hh mutant mice demonstrates that the RPE and developing scleral mesenchyme are direct targets of Ihh signaling and that Ihh is required for the normal pigmentation pattern of the RPE and the condensation of mesenchymal cells to form the sclera. Our findings also indicate that Ihh signals indirectly to promote proliferation and photoreceptor specification in the neural retina. This study identifies Ihh as a novel choroid-derived signal that regulates RPE, sclera and neural retina development.

Corneal pathology in microphthalmia with linear skin defects syndrome.

PURPOSE: To describe the histopathology of the cornea in microphthalmia with linear streaks (MLS) syndrome. METHODS: Two patients with MLS syndrome underwent penetrating keratoplasty. This study describes the histopathology and investigates immunophenotype of the corneal extracellular matrix by using keratan sulfate and collagen type III antibodies. RESULTS: Clinical examination revealed bilateral sclerocornea and characteristic skin changes. By light microscopy, central corneal stroma in both patients showed vascularization and irregular thick collagen lamellae typical of sclerocornea. In addition, corneal thinning, anterior synechiae, and the absence of the Descemet membrane were noted, which was suggestive of Peters anomaly. Diffuse and intense anti-keratan sulfate staining and minimal anti-collagen type III stromal staining were seen in both corneal buttons. CONCLUSIONS: The cornea in MLS may clinically resemble sclerocornea. Histologic features resemble those previously described in sclerocornea and also seen in anterior segment dysgeneses. Keratan sulfate and collagen type III labeling suggests that the corneal extracellular matrix resembled cornea and not sclera.