Ocular prosthesis: a brief review and fabrication of an ocular prosthesis for a geriatric patient

Objective: A review of literature for ocular prosthesis is presented along with a case report of a geriatric patient. Review of literature: The evolution of ocular prosthesis, materials and methods, fabrication techniques for custom and stock eye prosthesis, delivery and after care for the ocular prosthesis are reviewed. Case report: A 74‐year‐old female patient who had undergone enucleation of her right eye was restored with a stock ocular prosthesis. Conclusion: The use of stock ocular prosthesis of appropriate contour, size and colour can provide an acceptable aesthetic result.     

Influence of artificial accelerated ageing on the colour stability of paints used for ocular prosthesis iris painting

doi: 10.1111/j.1741‐2358.2010.00473.x
Influence of artificial accelerated ageing on the colour stability of paints used for ocular prosthesis iris painting Objectives: To evaluate the colour stability of paints used for ocular prosthesis iris painting submitted for accelerated artificial ageing (AAA). Materials and methods: Forty specimens of acrylic resin for sclera (16 × 2 mm) were made and separated into eight groups (n = 10) according to the type of paint (gouache, GP; oil, OP; acrylic AP; and composite resin for characterisation, CR) and the colours used (blue/brown). After drying (72 h), a new layer of colourless acrylic resin was applied and the initial colour readout was performed (Spectrophotometer PCB 6807). New colour readouts were performed after AAA, and ΔE was calculated. Results: Statistical analysis (two‐way anova –Bonferroni, p < 0.05) demonstrated that the brown colour showed lower ΔE means in comparison with the blue colour, with statistically significant difference for AP only. Blue colour showed no statistically significant difference with regard to the type of paint used. Brown AP showed lower ΔE than the other groups, with significant difference for OP and GP. GP showed greater alteration in ΔE for the brown colour, being statistically similar only to OP. Conclusions: Only the AP group for brown pigment shows clinically acceptable values for colour stability after AAA.     

Microbiological analysis of conjunctival secretion in anophthalmic cavity,contralateral eye and ocular prosthesis of patients with maxillofacial abnormalities

The purpose of this study was to identify and analyse the micro‐organisms present in the conjunctival secretion in anophthalmic cavities of wearers of ocular prostheses, as well as on the prostheses used by them, correlating them with the microbiota of the contralateral eye. Nine patients with maxillofacial abnormalities, wearers of an acrylic resin ocular prosthesis participated in the study. Collections of conjunctival secretions and biofilm were performed on the prosthesis, anophthalmic cavity and contralateral eye for the mycological and bacterial analyses. The data were submitted to statistical analysis, performing a Kendall correlation test to identify the correlation between the collection site and the identified micro‐organism (P < 0·05). It was verified that the most prevalent micro‐organisms were the Staphylococcus aureus and Staphylococcus epidermidis, independent of the collection site, and that negative cultures for fungi were encountered in 85·2% of collections, independent of the region. It was not possible to establish a correlation among the types of micro‐organisms and the collection sites.

Significance and Impact of the Study

Some evidence suggests that the surface roughness of ocular prostheses can influence interactions with micro‐organisms, with greater prejudicial consequences, such as the establishment of biofilms, which could lead to infections. Thus, it becomes extremely important to identify the micro‐organisms present on the acrylic surfaces of ocular prostheses, as well as the microbiota of the anophthalmic cavity and contralateral eye of wearers of the same, so that subsequent control measures promote the homeostatic maintenance of the ocular region.     

Effect of different disinfectants on the microhardness and roughness of acrylic resins for ocular prosthesis

Background: Ocular prosthesis materials should have specific properties for their indication and durability; therefore, it is important to investigate their physical behaviour when affected by several disinfectants. Objectives: This study evaluated the influence of different disinfecting solutions on the microhardness and surface roughness of acrylic resins for ocular prosthesis. Materials and Methods: Fifty samples simulating ocular prostheses were fabricated with N1 resin and colourless resin and divided (n = 10) according to the disinfectant used: neutral soap, Opti‐free, Efferdent, 1% hypochlorite (HYC) and 4% chlorhexidine (CHX). Samples were stored in saline solution at 37°C and disinfected during 120 days. Both microhardness and roughness were investigated before, after 60 days and 120 days of disinfection and storage. Microhardness was measured using a microhardner and the roughness with a roughness device. Results: N1 resin showed lower microhardness when compared with colourless resin (p < 0.05). HYC and CHX groups exhibited the highest change of microhardness and roughness values (p < 0.05). An increase in roughness and reduction in microhardness of ocular acrylic resins were observed after both periods of disinfection and storage (p < 0.05). Conclusion: Both disinfection/storage periods affected the microhardness and roughness values of the samples.     

Notch signaling in the pigmented epithelium of the anterior eye segment promotes ciliary body development at the expense of iris formation

The ciliary body and iris are pigmented epithelial structures in the anterior eye segment that function to maintain correct intra‐ocular pressure and regulate exposure of the internal eye structures to light, respectively. The cellular and molecular factors that mediate the development of the ciliary body and iris from the ocular pigmented epithelium remain to be fully elucidated. Here, we have investigated the role of Notch signaling during the development of the anterior pigmented epithelium by using genetic loss‐ and gain‐of‐function approaches. Loss of canonical Notch signaling results in normal iris development but absence of the ciliary body. This causes progressive hypotony and over time leads to phthisis bulbi, a condition characterized by shrinkage of the eye and loss of structure/function. Conversely, Notch gain‐of‐function results in aniridia and profound ciliary body hyperplasia, which causes ocular hypertension and glaucoma‐like disease. Collectively, these data indicate that Notch signaling promotes ciliary body development at the expense of iris formation and reveals novel animal models of human ocular pathologies.     

Delineating the role of MITF isoforms in pigmentation and tissue homeostasis

MITF, a gene that is mutated in familial melanoma and Waardenburg syndrome, encodes multiple isoforms expressed from alternative promoters that share common coding exons but have unique amino termini. It is not completely understood how these isoforms influence pigmentation in different tissues and how the expression of these independent isoforms of MITF is regulated. Here, we show that melanocytes express two isoforms of MITF, MITF‐A and MITF‐M. The expression of MITF‐A is partially regulated by a newly identified retinoid enhancer element located upstream of the MITF‐A promoter. Mitf‐A knockout mice have only subtle changes in melanin accumulation in the hair and reduced Tyr expression in the eye. In contrast, Mitf‐M‐null mice have enlarged kidneys, lack neural crest‐derived melanocytes in the skin, choroid, and iris stroma, yet maintain pigmentation within the retinal pigment epithelium and iris pigment epithelium of the eye. Taken together, these studies identify a critical role for MITF‐M in melanocytes, a minor role for MITF‐A in regulating pigmentation in the hair and Tyr expression in the eye, and a novel role for MITF‐M in size control of the kidney.     

Metamorphic pitx2 expression in the left habenula correlated with lateralization of eye‐sidedness in flounder

The bilateral symmetry of flounder larvae changes through the process of morphogenesis to produce external asymmetry at metamorphosis. The process is characterized by the lateral migration of one eye and pigmentation at the ocular side. Migration of the left or right eye to produce either dextral or sinistral forms, respectively, is usually fixed within a species. Here we propose a mechanism for the mediation of lateralization by the nodal‐lefty‐pitx2 (NLP) pathway in flounders, in which pitx2, the final left‐right determinant of the NLP pathway, is re‐expressed in the left habenula at pre‐metamorphosis. After the initiation of left‐sided pitx2 re‐expression, the eye commences migration, when the habenulae shift their position on the ventral diencephalon rightwards in sinistral flounder (Paralichthys olivaceus) and leftwards in dextral flounder (Verasper variegatus). In addition, the right habenula increases in size relative to the left habenula in both species. Loss of pitx2 re‐expression induces randomization of eye‐sidedness, manifesting as normal, reversed or bilateral symmetry, with laterality of the structural asymmetry of habenulae being entirely inverted in reversed flounders compared with normal ones. Thus, flounder pitx2 appears to be re‐expressed in the left habenula at metamorphosis to direct eye‐sidedness by lateralizing the morphological asymmetry of the habenulae.     

Determination of optical parameters of the porcine eye and development of a simulated model

The eye is a very sophisticated system of optical elements for the preeminent sense of vision. In recent years, the number of laser surgery to correct the optical aberration such as myopia or astigmatism has significantly increased. Consequently, improving the knowledge related to the interactions of light with the eye is very important in order to enhance the efficiency of the surgery. For this reason, a complete optical characterization of the porcine eye is presented in this study. Kubelka‐Munk and Inverse Adding‐Doubling methods were applied to spectroscopy measurement to determine the absorption and scattering coefficients. Furthermore, the refractive index has been measured by ellipsometry. The different parameters were obtained for the cornea, lens, vitreous humor, sclera, iris, choroids and eyelid in the visible and infrared region. Thereafter, the results are implemented in a COMSOL Multiphysics® software to create an eye model. This model gives a better understanding of the propagation of light in the eye by adding optical parts such as the iris, the sclera or the ciliary bodies. Two simulations show the propagation of light from the cornea to the retina but also from the sclera to the retina. This last possibility provides a better understanding of light propagation during eye laser surgery such as, for example, transscleral cyclophotocoagulation. Figure: Eye simulation models allow the development of new laser treatments in a simple and safe way for patients. To this purpose, the creation of an eye simulated model based on optical parameters obtained from experimental data is presented in this study. This model will facilitate the understanding of the light propagation inside the porcine eye.     

Implant‐retained thumb prosthesis with anti‐rotational attachment for a geriatric patient

doi:10.1111/j.1741‐2358.2009.00283.x
Implant‐retained thumb prosthesis with anti‐rotational attachment for a geriatric patient This report presents the use of a dental implant with an anti‐rotational attachment for the retention of a thumb prosthesis. A retention system was manufactured with an attachment (UCLA) screwed into the implant with a two‐bar system that was cast in metallic silver palladium. A substructure made from heat‐cured acrylic resin was joined to the retention system by clips to join the thumb to the finger (bar clip) in the cast with implant rejoinder. The silicone material, Silastic‐MDX 44210, was used to achieve function and aesthetics. Following osseointegration, no skin problems were observed. Whilst the implant‐retained digital prosthesis presented some motor limitations, it allowed the patient to return to entertainment and achieve social conviviality.     

Genetic mapping of a mouse ocular malformation locus, tcm, to chromosome 4

The Tcm mutation in the mouse is an autosomal dominant ocular malformation manifesting as microphthalmia, iris dysplasia, cataract, and coloboma. As a first step to cloning the Tcm gene, we report the localization of the Tcm mutation with respect to known microsatellite markers. Backcross progeny carrying the Tcm mutation were produced by mating Tcm/+ heterozygous mice to normal C57BL/6 partners. Genomic DNA from each mouse was subjected to PCR analysis to identify simple sequence length polymorphisms. Our results locate Tcm to Chr 4 and suggest candidate genes responsible for the Tcm phenotype. Finally, ocular histopathology was done in 3-week-old animals to define the extent of the malformation. Received: 14 April 1996 / Accepted: 13 October 1996     

Description of a new cryptic,shallow‐water tonguefish (Pleuronectiformes: Cynoglossidae: Symphurus) from the western North Pacific Ocean

Combined results based on morphological characters and analyses of partial sequences of the 16s rRNA and coI genes confirm the validity of a new, cryptic, symphurine tonguefish from the western North Pacific Ocean. Symphurus leucochilus n. sp., a diminutive species reaching sizes to c. 67 mm standard length, is described from nine specimens that were collected from fish‐landing ports and from trawls made at c. 150 m off Taiwan and Japan. Symphurus leucochilus shares many similar features with those of Symphurus microrhynchus and that of several undescribed species that are morphologically similar to S. microrhynchus. Symphurus leucochilus has also been misidentified as Symphurus orientalis in fish collections because of shared similarities in some aspects of their morphology. The new species differs from all congeners by the following combination of meristic, morphological and pigmentation features: a predominant 1–2–2–2–2 pattern of interdigitation of proximal dorsal‐fin pterygiophores and neural spines; 12 caudal‐fin rays; 89–92 dorsal‐fin rays; 76–80 anal‐fin rays; 49–51 total vertebrae; four hypurals; 75–83 longitudinal scale rows; 32–35 transverse scales; 15–17 scale rows on the head posterior to the lower orbit; absence of a fleshy ridge on the ocular‐side lower jaw and a membranous connection between the anterior nostril and lower part of the eye; a narrow interorbital space and dorsal‐fin origin anterior to the vertical through the anterior margin of the upper eye; absence of both dermal spots at bases of anterior dorsal‐fin rays and melanophores on the isthmus; uniformly yellow to light‐brown ocular‐side colouration without bands; dorsal and anal fins with alternating series of dark rectangular blotches and unpigmented areas; a uniform white blind side and a bluish‐black peritoneum. Despite overall similarities in morphology between S. leucochilus and S. orientalis, as well as between two of the nominal species morphologically similar to S. microrhynchus, analyses of partial 16s rRNA and coI gene sequences show that S. leucochilus, S. orientalis and the two other nominal species represent three distinct lineages within the genus Symphurus.     

Genome-wide association studies for iris pigmentation and heterochromia patterns in Large White pigs

Eye colour genetics have been extensively studied in humans since the rediscovery of Mendel’s laws. This trait was first interpreted using simplistic genetic models but soon it was realised that it is more complex. In this study, we analysed eye colour variability in a Large White pig population (n = 897) and report the results of GWASs based on several comparisons including pigs having four main eye colour categories (three with both pigmented eyes of different brown grades: pale, 17.9%; medium, 14.8%; and dark, 54.3%; another one with both eyes completely depigmented, 3.8%) and heterochromia patterns (heterochromia iridis – depigmented iris sectors in pigmented irises, 3.2%; heterochromia iridum – one whole eye iris of depigmented phenotype and the other eye with the iris completely pigmented, 5.9%). Pigs were genotyped with the Illumina PorcineSNP60 BeadChip and GEMMA was used for the association analyses. The results indicated that SLC45A2 (on chromosome 16, SSC16), EDNRB (SSC11) and KITLG (SSC5) affect the different grades of brown pigmentation of the eyes, the bilateral eye depigmentation defect and the heterochromia iridis defect recorded in this white pig population respectively. These genes are involved in several mechanisms affecting pigmentation. Significant associations for the eye depigmented patterns were also identified for SNPs on two SSC4 regions (including two candidate genes: NOTCH2 and PREX2) and on SSC6, SSC8 and SSC14 (including COL17A1 as candidate gene). This study provided useful information to understand eye pigmentation mechanisms, further valuing the pig as animal model to study complex phenotypes in humans.     

Knowledge of prosthodontic treatment among denture-wearers and non-denture-wearers attending a dental institute in India: a survey report

Objective: Knowledge of subjects regarding prosthodontic treatment may play a role in their acceptance of the prostheses. The purpose of this survey was to assess the knowledge of prosthodontic treatment among the denture‐wearers and non‐denture‐wearers reporting to the Institute of Dental Sciences, Belgaum. Methods: A self‐designed closed‐ended questionnaire containing 14 questions was designed. Four‐hundred and nineteen subjects aged between 25 and 65 years were surveyed over a period of 2 months. Collected data were statistically analysed using chi‐squared test at a significance level of p < 0.05. Results: From the 419 subjects surveyed, 140 subjects (33.4%) were dentate and 279 subjects (66.6%) were edentulous either in the maxillary, mandibular or both arches. Among the 279 edentulous subjects, 143 (51.3%) did not use any kind of prosthesis. There was a statistically significant difference in knowledge regarding the replacement of teeth by artificial means, the number of visits required for the provision of a complete denture, problems with dentures among subjects using and not using them (p < 0.001) whereas no significant difference was found among the subjects regarding aesthetics with dentures and socializing with friends. Conclusion: Attempts should be made to raise the level of knowledge of both denture‐wearers and non‐denture‐wearers reporting to the Institute for any dental treatment.     

Label‐Free Quantitative Proteomics Distinguishes General and Site‐Specific Host Responses to Pseudomonas aeruginosa Infection at the Ocular Surface

Mass spectrometry‐based proteomics enables the unbiased and sensitive profiling of cellular proteomes and extracellular environments. Recent technological and bioinformatic advances permit identifying dual biological systems in a single experiment, supporting investigation of infection from both the host and pathogen perspectives. At the ocular surface, Pseudomonas aeruginosa is commonly associated with biofilm formation and inflammation of the ocular tissues, causing damage to the eye. The interaction between P. aeruginosa and the immune system at the site of infection describes limitations in clearance of infection and enhanced pathogenesis. Here, the extracellular environment (eye wash) of murine ocular surfaces infected with a clinical isolate of P. aeruginosa is profiled and neutrophil marker proteins are detected, indicating neutrophil recruitment to the site of infection. The first potential diagnostic markers of P. aeruginosa‐associated keratitis are also identified. In addition, the deepest murine corneal proteome to date is defined and proteins, categories, and networks critical to the host response are detected. Moreover, the first identification of bacterial proteins attached to the ocular surface is reported. The findings are validated through in silico comparisons and enzymatic profiling. Overall, the work provides comprehensive profiling of the host–pathogen interface and uncovers differences between general and site‐specific host responses to infection.     

The presence of HIV infection in a hospital-based primary care setting

Background: The incidence of HIV infection in the general population continues to grow as a cure is yet to be found. Fortunately, great strides have been made in treating this multifactorial disease so patients are living longer and more productive lives. As a result, there is a growing demand from all health care disciplines, including optometry, to provide care for patients with HIV infection. Methods: From June 1, 1994 through May 30, 1995, HIV seropositive patients presenting to the primary care optometry clinic at the Bascom Palmer Eye Institute were identified from the total clinic population. All patients presented to the clinic as part of a routine eye exam or were referred by a primary physician. All abnormal findings were recorded in a log in addition to the CD4⁺ T-cell count. Results: One hundred and fifty HIV seropositive patients were identified from the clinic population. Fifty percent were ocularly abnormal including 31 patients (20.7%) with HIV microangiopathy, and nine patients (6%) with CMV retinitis. One hundred and eighteen patients (78.7%) knew their CD4 count. There was a correlation between HIV-related ocular findings and low CD4 counts. Similarly 65.6% of the patients who did not know or did not share their CD4 counts had abnormalities in their eye exam with 52.4% being HIV related. Conclusion: Optometrists play an important part of the health care team since patients with HIV infection present to primary care optometrists for comprehensive eye care as demonstrated in this study. The optometrist must be aware of the status of their CD4 count as this helps determine the risk for having HIV-related problems. Many patients will be able to provide this information as shown. Caution must be displayed with patients who do not know their CD4 count as this may be a poor prognostic sign. Finally, optometrists must educate patients about the risk for developing ocular complications from HIV as part of their eye care as both HIV microangiography and CMV retinitis were the most common AIDS-related ocular findings.     

Neural crest derivatives in ocular development: Discerning the eye of the storm

Neural crest cells (NCCs) are vertebrate‐specific transient, multipotent, migratory stem cells that play a crucial role in many aspects of embryonic development. These cells emerge from the dorsal neural tube and subsequently migrate to different regions of the body, contributing to the formation of diverse cell lineages and structures, including much of the peripheral nervous system, craniofacial skeleton, smooth muscle, skin pigmentation, and multiple ocular and periocular structures. Indeed, abnormalities in neural crest development cause craniofacial defects and ocular anomalies, such as Axenfeld‐Rieger syndrome and primary congenital glaucoma. Thus, understanding the molecular regulation of neural crest development is important to enhance our knowledge of the basis for congenital eye diseases, reflecting the contributions of these progenitors to multiple cell lineages. Particularly, understanding the underpinnings of neural crest formation will help to discern the complexities of eye development, as these NCCs are involved in every aspect of this process. In this review, we summarize the role of ocular NCCs in eye development, particularly focusing on congenital eye diseases associated with anterior segment defects and the interplay between three prominent molecules, PITX2, CYP1B1, and retinoic acid, which act in concert to specify a population of neural crest‐derived mesenchymal progenitors for migration and differentiation, to give rise to distinct anterior segment tissues. We also describe recent findings implicating this stem cell population in ocular coloboma formation, and introduce recent evidence suggesting the involvement of NCCs in optic fissure closure and vascular development. Birth Defects Research (Part C) 105:87–95, 2015. © 2015 Wiley Periodicals, Inc.     

Teaching cases: Heterochromia

Abstract: A patient was noted to have 2 different eye colours and miosis in her left eye. She ultimately received a diagnosis of congenital Horner syndrome. Determinants of eye colour and possible clinical significance are discussed.The case: A 35-year-old woman with a hypertensive emergency and confusion presented to the emergency department. Incidentally, we noted that she had 2 different coloured eyes (heterochomia) and miosis of her left eye (Figure 1). The patient reported that her eyes had been different colours since very early in her childhood.Open in a separate windowFigure 1: This 35-year-old woman had different coloured eyes since birth. The entire iris of her right eye is brown, and the iris of the left eye is greenish brown. Her left pupil is smaller than the right, which is consistent with the diagnosis of congenital Horner syndrome.Although some patients have pigment changes involving only 1 segment of the iris (segmental heterochromia or heterochromia iridium),¹ our patient''s entire iris was involved (complete heterochromia or heterochromia iridis). Heterochromia iridis is rare, affecting fewer than 200 000 people in the United States.² Although uncommon in humans, it is common in some breeds of cats, dogs and horses.Eye colour is determined by the concentration and distribution of melanin in the iris, with both genetic and physiologic factors affecting determination and maintenance of iris colour. Most human cases of heterochromia are sporadic and benign, and they occur without any detectable underlying abnormality. Congenital heterochromia occurs in a variety of syndromes, including Sturge–Weber syndrome, Waardenburg syndrome and Parry–Romberg syndrome (3Table 1Open in a separate windowDisruption of the sympathetic stimulation of the melanocytes in the superficial stroma of the iris (especially as a child) can lead to heterochromia. Horner syndrome from the unilateral impairment of sympathetic nerves leads to ptosis, miosis, a lag in pupil dilation, enopthalmos (the impression of a sunken eye) and facial anhidrosis (decreased sweating on 1 side of the face). Acquired heterochromia can occur in adults in rare cases as a result of acquired Horner syndrome. In contrast to patients with acquired Horner syndrome, patients with congenital Horner syndrome, such as our patient, often lack several features of the syndrome.In adults with acquired heterochromia and miosis, Fuchs heterochromic cyclitis and sympathetic heterochromia must be considered. Unilateral sympathetic nerve lesions such as paravertebral neurilemmoma and neuroblastoma should also be considered. Our patient''s clinical presentation was inconsistent with any of these causes. Sympathetic heterochromia was suspected but investigations, including urinary catecholamines and an MIBG (iodine-131-meta-iodobenzylguanidine) scan, did not reveal excess catecholamine secretion or a sympathetic tumour.The patient''s blood pressure was managed with appropriate medication, and she was ultimately discharged from our care with a reversal of her confusion. There was no further follow-up with regard to her eye colour.Habib Ur Rehman MBBS Department of Internal Medicine Regina General Hospital Qu''Appelle Health Region Regina, Sask.     

Telocytes and stem cells in limbus and uvea of mouse eye

The potential of stem cell (SC) therapies for eye diseases is well‐recognized. However, the results remain only encouraging as little is known about the mechanisms responsible for eye renewal, regeneration and/or repair. Therefore, it is critical to gain knowledge about the specific tissue environment (niches) where the stem/progenitor cells reside in eye. A new type of interstitial cell–telocyte (TC) ( www.telocytes.com ) was recently identified by electron microscopy (EM). TCs have very long (tens of micrometres) and thin (below 200 nm) prolongations named telopodes (Tp) that form heterocellular networks in which SCs are embedded. We found TCs by EM and electron tomography in sclera, limbus and uvea of the mouse eye. Furthermore, EM showed that SCs were present in the anterior layer of the iris and limbus. Adhaerens and gap junctions were found to connect TCs within a network in uvea and sclera. Nanocontacts (electron‐dense structures) were observed between TCs and other cells: SCs, melanocytes, nerve endings and macrophages. These intercellular ‘feet’ bridged the intercellular clefts (about 10 nm wide). Moreover, exosomes (extracellular vesicles with a diameter up to 100 nm) were delivered by TCs to other cells of the iris stroma. The ultrastructural nanocontacts of TCs with SCs and the TCs paracrine influence via exosomes in the epithelial and stromal SC niches suggest an important participation of TCs in eye regeneration.     

Ghrelin in ocular pathophysiology: From the anterior to the posterior segment

Ghrelin is a 28 amino acid acylated peptide produced in several organs that binds the growth hormone secretagogues receptor type 1a (GHSR-1a). It acts over a wide range of systems, e.g. the endocrine, cardiovascular, musculoskeletal and immune systems and the eye. The aim of this work is to review the physiologic and pathologic implications of the ghrelin-GHSR-1a in the eye. A systematic revision of studies published between 2000 and 2013 in English, Spanish or Portuguese in MEDLINE, EMBASE and Scopus was performed. Search words used included: ghrelin, GHSR-1a, ocular production, iris muscular kinetics, ciliary body, glaucoma, retinopathy and uvea. The production of ghrelin by the ocular tissue has been detected both in the anterior and posterior segments, as well as the presence of GHSR-1a. This peptide promotes the relaxation of the iris sphincter and dilator muscles, being this effect independent from GHSR-1a and dependent on prostaglandins release in the first case and dependent on GHSR-1a in the second. Regarding ocular pathology, ghrelin levels in the aqueous humor appear to be decreased in individuals with glaucoma. Moreover, ghrelin has been shown to decrease the intraocular pressure in animal models of ocular hypertension through GHSR-1a. In the posterior segment, the ghrelin-GHSR-1a system interferes with the development of oxygen-induced retinopathy, being protective in the vaso-obliterative phase and deleterious in the vaso-proliferative stage of the disease. Thus, the ghrelin-GHSR-1a system presents as a possible local regulatory mechanism in the eye, with pathophysiological implications, constituting a target for future clinical and therapeutic research and interventions.     

<Emphasis Type="Italic">CHX10</Emphasis> mutations cause non-syndromic microphthalmia/anophthalmia in Arab and Jewish kindreds

Microphthalmia/anophthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. The genetic defect underlying isolated autosomal recessive microphthalmia/anophthalmia is yet unclear. We studied four families (two of Arab origin, one of Bedouin origin, and one of Persian-Jewish origin) with autosomal recessive microphthalmia/anophthalmia and no associated eye anomalies, and one Syrian–Jewish family with associated colobomas. Assuming a founder effect in each of the families, we performed homozygosity mapping using polymorphic markers adjacent to human homologues of genes known to be associated with eye absence in various species, namely EYA1, EYA2, EYA3, SIX4, SIX6, PAX6 and CHX10. No association was found with EYA1, EYA2, EYA3, SIX6 or PAX6. In two families, linkage analysis was consistent with possible association with SIX4, but no mutations were found in the coding region of the gene or its flanking intron sequences. In three of the five families, linkage analysis followed by sequencing demonstrated that affected individuals in each family were homozygous for a different CHX10 aberration: a mutation in the CVC domain and a deletion of the homeobox domain were found in two Arab families, and a mutation in the donor-acceptor site in the first intron in the Syrian-Jewish family. There was phenotypic variation between families having different mutations, but no significant phenotypic variation within each family. It has been previously shown that mutations in a particular nucleotide in CHX10 are associated with an autosomal recessive syndrome of microphthalmia/anophthalmia with iris colobomas and cataracts in two families. We now show that different mutations in other domains of the same gene underlie isolated microphthalmia/anophthalmia.