Search

Winchester syndrome (WS) is a rare genetic disorder with a handful of cases reported to date. We report a 14‐year‐old male who presented with growth retardation, contracture of left lower limb due to thick indurated skin, hypertrichosis, and bilateral corneal opacity. There was complete improvement in joint contracture with oral betamethasone pulse and weekly oral methotrexate. [ABSTRACT FROM AUTHOR]

Background: Anterior segment dysgenesis (ASD) is an ocular malformation that can lead to childhood blindness. Although ASD prevalence is rare, it is potentially devastating for children and caretakers. We aim to report the clinical features of ASD patients in a tertiary referral center in Indonesia. Methods: We conducted a retrospective review of medical records of ASD patients in the Pediatric Ophthalmology clinic in Cipto Mangunkusumo National Central Public Hospital, Jakarta, Indonesia between January 1, 2018, and December 31, 2021. Results: A total of 172 eyes of 107 children with ASD were included in this study. Most of the patients were male, aged 3.4 years ±5.0 SD at first examination, 67.3% patients came from outside Jakarta, and 75.6% of eyes had bilateral ASD. Most common clinical manifestations was congenital corneal opacities (CCO), microcornea, and congenital glaucoma. The most common visual acuity (VA) was fixation and following light/object. Intraocular pressure (IOP) increased in 41% eyes. The most common surgery performed was glaucoma surgery, which was performed in 6.4% of eyes in the study. Conclusion: ASD has a devastating impact on children's VA, along with its poor prognosis despite surgery thus contributes largely to childhood blindness. ASD detection and management is highly challenging in children, and increased awareness on ASD is pivotal in earlier referral and treatment of ASD.

Copyright of Acta Medica Colombiana is the property of Acta Medica Colombiana and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Corneal scarring, a significant cause of global blindness, results from various insults, including trauma, infections, and genetic disorders. The conventional treatment to replace scarred corneal tissues includes partial or full-thickness corneal transplantation using healthy donor corneas. However, only 1 in 70 individuals with treatable corneal scarring can undergo surgery, due to the limited supply of transplantable donor tissue. Our research focuses on cell-based strategies, specifically ex vivo-expanded corneal stromal stem cells (CSSCs), to address corneal scarring. Preclinical studies have demonstrated the efficacy of CSSC treatment in reducing corneal inflammation and fibrosis, inhibiting scar formation, and regenerating native stromal tissue. Mechanisms include CSSC differentiation into stromal keratocytes and the expression of regenerative cytokines. Here, we present a good manufacturing practice (GMP)-compliant protocol to isolate and expand human CSSCs. This method paves the way to produce clinical-grade CSSCs for transplantation and clinical trials. Key features • This protocol utilizes surgical skills to dissect human corneal tissues for CSSC isolation. • The yield and features of CSSCs rely on donor tissue quality (freshness) and have donor-to-donor variability. • Up to 0.5 billion CSSCs can be generated from a single cornea specimen, and cells at passage 3 are suitable for treatment uses., Competing Interests: Competing interestsThe authors declare that they have no competing interests., (©Copyright : © 2024 The Authors; This is an open access article under the CC BY license.)

Corneal opacities are a major source of corneal morbidity in Africa and many resource-limited parts of the world. Unfortunately, there is a dearth of specialist corneal services either from lack of manpower or non-availability of materials and tools. This makes penetrating keratoplasty inaccessible from prohibitive cost or lack of donors. The index case was a 45-year-old indigent female farmer who presented with a right atrophic eye and defective vision on the left eye due to stick injury from farm work. Examination revealed a 2/60 eccentric vision and extensive adherent leukoma on the left eye. Superonasal optical iridectomy was done and vision improved to 6/18 with correction at sixth postoperative week. In conclusion, optical iridectomy, in selected patients, can restore useful vision., Competing Interests: There are no conflicts of interest., (Copyright: © 2024 Journal of the west African college of surgeons.)

Purpose: We report our findings of a patient with a definitive diagnosis of familial lecithin-cholesterol acyltransferase deficiency (FLD), whose corneal thickness was measured using swept-source optical coherence tomography (OCT) and who underwent an ophthalmologic therapeutic intervention. Observations: The patient was a 78-year-old Japanese man diagnosed with FLD at the age of 52 years. This was his first ever visit to an ophthalmology clinic. Slit lamp microscopy revealed bilateral diffuse corneal opacities and cataracts, angioid streaks of the retina, and macular atrophy in the fundus. The central corneal thickness, measured with swept-source OCT, was within the normal range in both eyes. Deep lamellar keratoplasty, phacoemulsification, and intraocular lens insertion were performed simultaneously for the left eye. The right eye was treated only using deep lamellar keratoplasty. Conclusions and importance: As seen in patients with fish-eye disease, the central corneal thickness in this patient with FLD was within the normal range. Since FLD is a rare disease, it is essential to collect and examine further data on corneal thickness.

Purpose: To evaluate long-term visual and refractive outcomes of corneal wavefront-guided transepithelial photorefractive keratectomy (t-PRK) with mitomycin C for the treatment of corneal opacities secondary to adenoviral epidemic keratoconjunctivitis. Methods: Records of patients who underwent corneal wavefront-guided t-PRK with excimer laser from January 2012 to December 2018 were retrospectively reviewed. Preoperative and postoperative uncorrected visual acuity, best-spectacle corrected visual acuity, slit-lamp biomicroscopic examination findings, manifest refraction, and corneal aberrations and fundus examination findings were evaluated. Results: Twenty-two eyes of 22 patients comprising 12 male (55%) and 10 female (45%) were treated. The mean age was 34.5 ± 10.8 years (range 19–55). The mean follow-up time was 34.4 ± 17.50 months (range 13–61 months). There was a statistically significant improvement in UCVA and BSCVA (p < 0.001 and p = 0.02), and there was a significant decrease in total higher-order aberrations, spherical, coma and trefoil aberration at postoperative first year (p < 0.001 in each). In two eyes of two patients, minimal haze formation was observed after the procedure, and both eyes were treated with topical steroid. No recurrence was observed in subepithelial infiltrates in any patient during long-term follow-up. Conclusion: In long-term clinical follow-up, corneal wavefront-guided t-PRK treatment is an effective and reliable treatment method for rehabilitation of visual impairment due to corneal scars following adenoviral infections, in properly selected patients. [ABSTRACT FROM AUTHOR]

Penetrating keratoplasty (PK) in children is a complex and ultifacetedproblem that has been experiencing pediatric ophthalmology for several decades With all its radicality and with all its therapeutic potential, most surgeons prefer, nevertheless, to refuse to transplant the cornea in childhood, and transfer it to a later date, especially in infants (up to a year). In the absence of alternative interest in this operation did not fade, the practice of corneal transplantation in children continued and improved. The desirability of PK in corneal opacities (CO) in children is no longer discussed as such. On the agenda is another question: how to make this operation a truly effective way of treatment. This is not an easy task in itself, with many problems. Among them – the complexity of communication with a young patient, a special plasticity of the tissues of the child’s eye, heavy, as a rule, the combined nature of the pathology, predisposition to violent inflammatory reactions, etc. In many years of practice, for the most part, by trial and error, these problems are gradually finding their solution. An empirical experience always precedes the understanding of the problem and the search for its solution, no matter how unsuccessful it may seem at the very beginning. This work is devoted to generalization of such experience.Objective. To Evaluate the immediate and long-term results ofpenetrating keratoplasty in children. Material and methods. Retrospectively and prospectively analyzed the medical history and hospital records of children operated in the Department of pathology of eyes in children, Moscow Helmholtz Research Institute of Eye Diseases in the period from 1997 to 2017. The total sample consisted of 208 cases of the PK, was performed in 185 children on 208 eyes. By the nature of the disease, all observations were divided into congenital and acquired CO. Among the latter, turbidity of traumatic and non-traumatic nature was distinguished. Biological and functional results of PK were evaluated. The biological result of the operation was evaluated in terms of graft survival (Kaplan-Mayer model). The functional result was estimated approximately: by tracking the child’s toys from a certain distance and by the method of pr eferred gaze.Results. The first 6 months after the surgery, the transplants, with rare exceptions, remained transparent. By the end of the 1st year, 72% of transplants remained transparent, by the end of the 2nd year not less than 65%, by the end of the 3rd year-not less than 55%, by the end of the 5th year not less than 45% of transplants. In search of a more rigorous determination of the results, PK assessed the impact of particular clinical circumstances on the engraftment of transplants. It turned out that regardless of the etiology of the disease graft survival is significantly lower if keratoplasty is carried out in a vascularized couch, if simultaneously with corneal transplantation are other optical-reconstructive surgery: cataract extraction, vitrectomy, plastic iris, if the diameter of the transplant >8 mm, in the eyes with glaucoma in history. Transparency of transplants is significantly reduced in complicated postoperative course: recurrent rejection crises, increased IOP or the appearance of synechiae. In at least 80% of patients, corneal transplants have resulted in improved visual aquity (VA). In most of these cases, VA increased from light perception to 0.1-0.3. Satisfactory results, when VA after surgery reached 0.6-0.8, were in patients with keratoconus and congenital hereditary corneal dystrophy. Among those who have measured hundredth of VA dominated children with severe congenital malformations of the cornea and anterior segment of the eye.Conclusion. PK in children today is a very successful surgical intervention, the therapeutic potential of which can be realized with proper consideration of risk factors, impeccable technique and careful postoperative monitoring.

Abstract Background Investigating the efficacy and safety of phacoemulsification with intraocular lens (IOL) implantation in corneal opacities. Methods This retrospective study was conducted in a tertiary medical center. Twenty-three eyes of 19 patients with cataracts and corneal opacities obscuring the pupillary center having received phacoemulsification with IOL insertion without any ancillary techniques were enrolled. The primary study outcome measures were uncorrected and best corrected visual acuity (BCVA), and complications. Backscatters of corneal scar lesions were evaluated by slit lamp-based haze grading, Scheimpflug Pentacam and anterior segment optical coherence tomography (ASOCT). Visual outcomes after cataract surgeries and improvement range were used to determine the safety and efficacy of cataract surgery for our patients. Results All patients underwent uneventful capsulorhexis and phacoemulsification. The mean age was 72.22 ± 10.1 years, and the mean follow-up period was 18.57 ± 15.42 months. The mean BCVA significantly improved from 1.45 ± 0.65 preoperatively to 0.94 ± 0.55 logMAR postoperatively (p

Clinical instruments using Scheimpflug image-based methods to obtain optical sectional images of the cornea have been introduced in recent years along with proposals that it should be possible to routinely and reliably measure the optical density (referred to as the densitometry) of the human cornea in situ. Such a concept is reviewed from the perspective of what might be considered as the basic principles underlying the understanding of corneal transparency (from the 1950's) and the progressive changes in these ideas from subjective slitlamp-based clinical observations from the late 1960's, especially in contact lens wearers. Much more has been learned about the overall macrostructure (including corneal thickness) and the ultrastructure of the cornea from contemporary studies in the 1990's, and these aspects of the cornea will be reviewed alongside consideration of the methods of assessing the optical characteristics of the cornea in the living eye. From these perspectives, in this review systematic consideration will be given to what objective (quantitative) output one of these Scheimpflug-based systems provides and how this information might be actually related to corneal transparency characteristics that might be observed clinically, particularly after long-term contact lens wear. [ABSTRACT FROM AUTHOR]

Purpose: We compared Visual attention of normal hearing students and congenitally deaf students, Deaf students are visually depended; respective study help us to find out visual attention of Deaf as compared with age matched hearing students. Method: Total 118 deaf students aged from 6 to 25 years were screened from School for the Deaf Children, Kitchlu Nagar, Ludhiana Punjab 141001. 30 students were randomly selected from age group 8.5 to 11.11 years. All 30 deaf students where compared with age-matched hearing students from Peace Public School NH 95, Ferozepur - Ludhiana Road, Ludhiana, Punjab 141102. Informed consent was taken from all students pears, all the participants where having best corrected distance visual acuity 6/6 (snellen chart) and near visual acuity N6. Anterior and Posterior eye examination where evaluated in Sankara Eye Hospital Ludhiana, prior to the test; Visual attention was evaluated using two different test type, SDMT Symbol digit Modality test and Attention Blink by Visual attention Brain Baseline App. Result: Symbol Digit Modality Test; didn't show significant difference between. Deaf (N= 30) and Hearing students (N=30), Deaf students (Mean 0.97, S.D 2.57 and SEM 0.47), Hearing students (Mean 0.47, S.D 0.97, SEM 0.18) T-ratio 1 and P-Value 0.32 there was no difference between deaf and hearing impaired group. Visual attention- Brain Baseline App, the attention blink showed significant difference between Deaf and hearing impaired students. Deaf students (Mean 0.09, S.D 0.08 and SEM 0.02), Hearing students (Mean 0.22, S.D 0.18, SEM 0.03) T-ratio 3.41 and P-Value 0.001. Conclusion: Deaf group had made less error, deaf showed better attention as compare with hearing group. This finding indicates that deaf students are having better attention in the central visual attention. It can be one of the factors for peripheral distraction of deaf students. [ABSTRACT FROM AUTHOR]

Purpose: Optical iridectomy creates a defect in the iris to allow an alternative clear visual axis in cases of central corneal opacities occluding the pupillary axis. The purpose of this study is to evaluate the outcomes of optical sector iridectomy in children with Peters anomaly.Methods: Retrospective case series. The medical records of all patients diagnosed with Peters anomaly who underwent optical iridectomy during the years 2002-2014 were reviewed. Data collection included surgical and visual acuity outcomes.Results: Twenty-nine eyes (22 patients) were included in the study. Mean age at the time of surgery was 15.6 ± 26.3 months. Eighteen (81.8%) patients had bilateral disease. No intraoperative complications occurred. A red reflex was obtained in 28 (96.6%) eyes after surgery. Mean visual acuity improved from 2.5 ± 0.3 to 1.8 ± 0.6 in logMAR (p < 0.001). Vision improved in 21 (72.4%) eyes, remained stable in 5 (17.2%) eyes, and deteriorated in 3 (10.3%) eyes. Postoperatively visual acuity improved significantly in the patients with the bilateral disease (p < 0.05), but not in the unilateral group (p = 0.056). Mean follow-up time was 41.6 ± 43.8 months. During the follow-up period, five (17.2%) eyes were diagnosed with glaucoma, two (6.9%) eyes underwent PK, one (3.4%) eye underwent an additional sector iridectomy, and one (3.4%) eye underwent keratoprosthesis.Conclusions: In this largest series published of optical iridectomy for Peters anomaly, it was found to be a safe procedure. Improvement in visual acuity is expected, particularly in bilateral cases. The utility of optical iridectomy in unilateral cases necessitates further studies. [ABSTRACT FROM AUTHOR]

Background: Corneal opacities are the common causes of corneal blindness. So, this study is to know the etiology of the corneal opacities. Objective: This study was to evaluate the etiology of corneal opacities, a common cause of corneal blindness. Methods: This was a hospital based observational study of 100 Patients of corneal opacities, who attended the outpatient department of Cornea, Sarojini Devi Eye Hospital, Osmania Medical College, Hyderabadover a period of 2yrs from August 2012 to August 2014. The patients were evaluated with a detailed history and comprehensive ophthalmic examination by slit lamp, Goldman applanation / Non Contact Tonometer, Indirect Ophthalmoscopy and Β scan mainly to know the etiology of the corneal opacities. The details of age and sex, laterality, literacy, socioeconomic status, occupation and complications were collected. The data was evaluated by simple statistical methods. Results: This study data analysis of 100 patients of corneal opacities showed that the causes were Trauma in 37 patients (37%), Infections in 33 patients (33%), congenital and developmental in 15 patients (15%) and degenerations and dystrophies in 15 patients (15%). The Age wise distribution was 27 patients (27%) in 0-20yrs, 39 patients (39%) in 20-40yrs, 29 patients (29%) in 40-60yrs and 5 patients (5%) above 60yrs. Laterality showed involvement of right eye in 43 patients (43%), both eyes in 35 patients (35%) and left eye in 22 patients (22%). 67 patients (67%) were males and 33 patients (33%) were females. 67 patients (67%) were from the Rural areas and 33 patients were from urban. 53 patients were Illiterate and 47 patients (47%) were literate. 53 patients (53%) were in Agricultural occupation, and 19 patients (19%) had complications like adherent leucoma. Complicated cataract. Secondary Glaucoma and Bullous keratopathy. Conclusions: The most frequent causes of corneal opacities were, trauma (37%) and infections (33%). Nearly 70% of all the causes of corneal opacities were avoidable. The prevalence of corneal opacities was significantly higher with illiteracy, rural agricultural background, decreasing socioeconomic status and with increasing age.

Pur po se: Evaluation of the corneal high-order aberrations and visual quality changes after application of silicone hydrogel contact lenses in patients with corneal opacities due to various etiologies. Ma te ri al and Met hod: Fifteen eyes of 13 patients with corneal opacities were included in the study. During the ophthalmologic examination before and after contact lens application, visual acuity was measured with Snellen acuity chart and contrast sensitivity - with Bailey-Lowie Charts in letters. Aberrations were measured with corneal aberrometer (NIDEK Magellan Mapper) under a naturally dilated pupil. Spherical aberration, coma, trefoil, irregular astigmatism and total high-order root mean square (RMS) values were recorded. Measurements were repeated with balafilcon A lenses (PureVision 2 HD, B&L) on all patients. Re sults: Patient age varied between 23 and 50 years. Two eyes had subepithelial infiltrates due to adenoviral keratitis, 1 had nebulae due to previous infections or trauma, and 2 had Salzmann’s nodular degeneration. We observed a mean increase of 1 line in visual acuity and 5 letters in contrast sensitivity with contact lenses versus glasses in the patients. Mean RMS values of spherical aberration, irregular astigmatism and total high-order aberrations decreased significantly with contact lenses. Dis cus si on: Silicone hydrogel soft contact lenses may improve visual quality by decreasing the corneal aberrations in patients with corneal opacities. (Turk J Ophthalmol 2012; 42: 97-102

In order to determine the prevalence of ocular lesions in HTLV-1 infected patients in Salvador Bahia, a transversal study was conducted on 140 HTLV-1 infected patients (90 asymptomatic and 50 tropical spastic paraparesis/HTLV-1-associated myelopathy) between June 2004 and November 2005. The ophthalmological examination included visual acuity measurement, ocular motility, biomicroscopy of the anterior and posterior chambers, intraocular pressure and evaluation of lachrymal secretion. Observation verified 4 (2.8%) out of 140 patients with uveitis (two patients had intermediate uveitis and two had pan-uveitis) and 39 (36.4%) out of 107 patients with keratoconjunctivitis sicca. The prevalence of Keratoconjunctivitis sicca was significantly higher among the TSP/HAM patients (OR age adjusted=3.64; 95%CI 1.59-8.32). Uveitis and corneal opacities were also important findings, indicating the strong need for periodic ophthalmological follow-up in all HTLV-1 subjects.Com o objetivo de determinar a prevalência de lesões oculares, em portadores de HTLV-1 em Salvador, Bahia, foi realizado um estudo transversal em 140 pacientes (90 assintomático e 50 com paraparesia espática tropical/mielopatia associada ao vírus linfotrópico de células T humanas) entre junho de 2004 e novembro de 2005. O exame oftalmológico incluiu medida da acuidade visual, exame da motilidade ocular, biomicroscopia anterior e posterior, pressão intraocular e avaliação do filme lacrimal. Observamos 4.0 (2.8%) pacientes com uveites (dois com uveíte intermediária e dois com panuveíte) e 39 (36,4%) pacientes com ceratoconjuntivite seca. A prevalência de Ceratoconjuntivite seca foi significantemente mais elevada entre os pacientes com TSP/HAM (RC ajustada para idade = 3,64; IC 95% 1,59-8,32). As uveítes e opacidades corneanas foram também, patologias importantes, indicando a necessidade de acompanhamento oftalmológico periódico nos portadores de HTLV-1.

The cornea represents the external part of the eye and consists of an epithelium, a stroma and an endothelium. Due to its curvature and transparency this structure makes up approximately 70 % of the total refractive power of the eye. This function is partly made possible by the particular organization of the collagen extracellular matrix contained in the corneal stroma that allows a constant refractive power. The maintenance of such an organization involves other molecules such as type V collagen, FACITs (fibril-associated collagens with interrupted triple helices) and SLRPs (small leucine-rich proteoglycans). These components play crucial roles in the preservation of the correct organization and function of the cornea since their absence or modification leads to abnormalities such as corneal opacities. Thus, the aim of this review is to describe the different corneal collagens and proteoglycans by highlighting their importance in corneal transparency as well as their implication in corneal visual disorders. [ABSTRACT FROM AUTHOR]

Purpose: Evaluation of the corneal high-order aberrations and visual quality changes after application of silicone hydrogel contact lenses in patients with corneal opacities due to various etiologies. Material and Method: Fifteen eyes of 13 patients with corneal opacities were included in the study. During the ophthalmologic examination before and after contact lens application, visual acuity was measured with Snellen acuity chart and contrast sensitivity - with Bailey-Lowie Charts in letters. Aberrations were measured with corneal aberrometer (NIDEK Magellan Mapper) under a naturally dilated pupil. Spherical aberration, coma, trefoil, irregular astigmatism and total high-order root mean square (RMS) values were recorded. Measurements were repeated with balafilcon A lenses (PureVision 2 HD, B&L) on all patients. Results: Patient age varied between 23 and 50 years. Two eyes had subepithelial infiltrates due to adenoviral keratitis, 1 had nebulae due to previous infections or trauma, and 2 had Salzmann's nodular degeneration. We observed a mean increase of 1 line in visual acuity and 5 letters in contrast sensitivity with contact lenses versus glasses in the patients. Mean RMS values of spherical aberration, irregular astigmatism and total high-order aberrations decreased significantly with contact lenses. Discussion: Silicone hydrogel soft contact lenses may improve visual quality by decreasing the corneal aberrations in patients with corneal opacities [ABSTRACT FROM AUTHOR]

Purpose: This study aimed to evaluate the effectiveness of phototherapeutic keratectomy (PTK) as an alternative treatment to keratoplasty using the Pentacam to assess depth of dense opacities. Methodology: PTK was performed in eleven eyes of ten patients with superficial corneal opacities after assessment by Scheimpflug images of the Pentacam for central corneal thickness (CCT) and opacity level and depth. Results: The best-corrected spectacle visual acuity (BCSVA) significantly improved. The preoperative mean logMAR was 0.85 (0.14 decimal equivalent, 6/42 Snellen's equivalent), and the final postoperative mean logMAR was 0.58 (0.26 decimal equivalent, 6/23 Snellen's equivalent). The mean preoperative CCT was 465.64 ± 71.94 μm. The mean programmed ablation depth was 142.09 ± 47.58 μm. The programmed ablation depth was correlated to mean logMAR early (1 month) and not correlated later (6 months). None of the eyes lost lines of BCSVA or developed serious complications, such as keratectasia, delayed epithelialization, or corneal melting. Conclusion: Corneal scars extending beyond the anterior one-fifth of the cornea can be treated safely and effectively by PTK due to the smoothing effect, with reduction of the cylinder rather than complete opacity removal. This can decrease the need for keratoplasty. [ABSTRACT FROM AUTHOR]

Purpose: Compare the effectiveness of Phototherapeutic keratectomy (PTK) in treatment corneal dystrophies versus superficial corneal scars: visual outcomes, recurrence rate and safety profile. Methods: PTK was performed in 51 eyes of 51 patients. Data regarding the indications for PTK, ablation depth, symptomatic relief, pre-and postoperative best spectacle-corrected visual acuity (BSCVA), spherical equivalent changes, recurrence and complications were analyzed. The indications for PTK in our study were classified into two categories - group A: patients with corneal dystrophies (n = 23) and the other group B (n = 28) with other indications. Results: The average age of the patients was 47 years (±16.4). The mean follow up period was 15.16 months (±10.01 months). Post operatively, there were no significant complications. While the overall BSCVA in the patients improved from 20/41 (0.484) to 20/32 (0.645), group A showed improvement from 20/35 (0.561) to 20/29 (0.687), as compared to group B in which BSCVA improved from 20/47 (0.421) to 20/33 (0.611). The most common indication in group A was granular corneal dystrophy (n = 10) and the most common indication in group B was post traumatic/infectious corneal scar or opacity (n = 10). Eighty-six percent (n = 44) of all patients had alleviation of symptoms. Recurrence of symptoms was seen in 3 eyes of recurrent corneal erosions which required retreatment. Conclusion: PTK is a safe and effective procedure. The outcome of this study suggests that PTK improves BSCVA. PTK appears to improve ocular surface health. Furthermore, PTK can be recommended to most patients with corneal dystrophies as a treatment modality prior to other more invasive procedure (viz. penetrating keratoplasty). [ABSTRACT FROM AUTHOR]

Purpose: To describe the phenotype of an autosomal-dominant corneal dystrophy with an early onset of recurrent corneal erosions and development of subepithelial fibrosis in the cornea, and also to exclude genetic linkage to known corneal dystrophies with autosomal-dominant inheritance and clinical resemblance. Methods: We describe the medical history and clinical findings in individuals from a seven-generation family with recurrent corneal erosions. A total of 43 individuals were evaluated by ophthalmological examination. Genomic DNA was prepared from peripheral blood and polymorphic microsatellite markers were analysed to study haplotypes surrounding genes causing corneal dystrophies with similar phenotypes. Results: Erosive symptoms usually lasted for between 1 and 10 days. By the age of 7 almost all of the affected individuals suffered from recurrent corneal erosions. The attacks generally declined in frequency and intensity from the late 20s, but all examined individuals had developed subepithelial fibrosis by the age of 37. The fibrosis generally started in the mid periphery and was followed in some family members by central fibrosis and the development of gelatinous superficial elevations. Only a marginal reduction of visual acuity was seen in a few individuals. The affected individuals did not share haplotypes for genetic microsatellite markers surrounding genes that are known to cause autosomal-dominant corneal dystrophies. Conclusion: We describe a new type of autosomal-dominant corneal disorder with recurrent corneal erosions and subepithelial fibrosis not significantly affecting visual acuity. [ABSTRACT FROM AUTHOR]

Corneal transplantation in a pediatric patient population poses special challenges that are not encountered in adults. The surgical procedure is technically more complex because of the small size of the globe, reduced rigidity of the cornea and sclera, and positive vitreous pressure with frequent anterior displacement of the lens-iris diaphragm. Severe inflammatory reaction, secondary glaucoma and immunological graft rejection are also much more likely to occur after surgery. Postoperative visual rehabilitation and amblyopia therapy are crucial but complex in a pediatric patient population. The combination of a dedicated multispecialty transplant team and the education and cooperation of the patient's family are imperative for a successful outcome. [ABSTRACT FROM AUTHOR]

We present six patients with typical Hallermann-Streiff syndrome. All have microphthalmia and were operated for congenital cataract. Three of the patients developed a severe glaucoma and one patient presented repeated uveal effusions. Five of our patients have the same pattern of corneal stromal opacities. The opacities are ill defined and bilateral; the stroma between the opacities is clear. The opacities are observed in two children around the age of 5. Follow up of 10 years did not reveal a manifest increase of the lesions. The authors believe that corneal stromal opacities are a feature of the Hallermann-Streiff syndrome and they would urge ophthalmologists to look for this. [ABSTRACT FROM AUTHOR]

A 15-year-old male presented with ichthyosis since infancy with panhypopituitarism, short stature and knock-knees, delayed puberty, high scrotal retractile testes, mental retardation and corneal opacities. He developed recurrent tinea capitis and tinea corporis. The clinical symptomatology indicates that this case cannot be considered as a subtype of inherited ichthyosis group, but suggests a new syndrome as a separate nosologic entity. Two previously reported cases with possibly the same syndrome also had ichthyosis associated with variable endocrinopathy. Thorough endocrinological evaluation and appropriate intervention in patients of ichthyosis with short stature may reduce the morbidity associated with retarded skeletal growth and gonadal maturation. [ABSTRACT FROM AUTHOR]

Background: Trachoma is one of the leading causes of blindness worldwide, resulting from conjunctival scarring, upper lid entropion and trichiasis, leading to corneal scarring and opacification. This study was designed to investigate the current prevalence of cicatricial trachoma in an indigenous population within Central Australia and help determine whether trachoma remains a public health issue.Methods: Participants aged 40 and over were recruited from patients attending one of 16 remote ophthalmology clinics held at indigenous communities in Central Australia within the Northern Territory. Once informed consent had been obtained, each patient underwent examination for evidence of trachomatous scarring, trachomatous trichiasis and corneal opacities. Results were collated and compared with previous prevalence surveys.Results: Among the sample (n = 181), there were 97 patients (54%; 95% CI 46.7–61.3) with trachomatous scarring, 15 patients (8%; 95% CI 2.8–13.2) with trichiasis and 5 patients (3%; 95% CI 0.5–5.5) with corneal opacities.Conclusion: This study suggests that, although the prevalence of the cicatricial and blinding consequences of trachoma may be decreasing in patients aged 40 years or greater, when compared with the current prevalence in other areas of Australia, trachoma still remains a public health issue in Central Australia. [ABSTRACT FROM AUTHOR]

Purpose: To describe a keratopathy in patients with the human immunodeficiency virus (HIV) infection. Methods: Retrospective review of ophthalmic and medical records, including laboratory evaluations, of seven patients with HIV infection and posterior intracorneal opacities. Results:Each patient had a bilateral peripheral keratopathy located at the level of the Descemet membrane that was unassociated with intraocular inflammation. All patients were receiving highly active antiretroviral therapy (HAART). All patients had elevations in their CD4+ T-lymphocyte counts due to HAART prior to presenting with the corneal opacities. Five of the seven patients had elevated serum cholesterol, triglycerides, or both. Best-corrected visual acuity was 20/25 or better in six of the seven patients at the time of diagnosis, and vision remained stable through the follow-up period in all patients (median follow-up: 25 months; range: 14–82 months). The corneal opacities remained unchanged in all seven over the follow-up period. Conclusion:These patients have a bilateral keratopathy that appears to be non-progressive and has no effect on visual acuity. [ABSTRACT FROM AUTHOR]

Familial HDL deficiency (FHD) is a rare autosomal dominant lipoprotein disorder. We describe a novel genetic variant of the apolipoprotein A-I (apoA-I) gene resulting in FHD. The proband is a 51-year-old woman who was hospitalized due to severe heart failure. Her plasma HDL-cholesterol (C) and apoA-I concentrations were 0.08 mmol/l and 1 mg/dl, respectively. She exhibited corneal opacities and planar xanthomas on eyelids and elbows. Coronary angiography demonstrated extensive obstructions in two major vessels. Genomic DNA sequencing of the patient’s apoA-I gene revealed a homozygosity for a GC deletion between 5 GC repeats in exon 4, creating a frameshift and a stop codon at residue 178. We designated this mutation as apoA-I Shinbashi. The proband’s father, son, and daughter were found to be heterozygous for this mutation and their HDL-C and apoA-I levels were about half of normal levels, demonstrating a gene dosage effect. The father underwent coronary bypass surgery at age of 70 years. Lecithin–cholesterol acyltransferase (LCAT) activity was decreased by 63% in the homozygote and 31% in heterozygotes, respectively. This new case of apoA-I deficiency, apoA-I Shinbashi, is the first case involving a single gene defect of the apoA-I gene to develop all the characteristics for apoA-I deficiency, including premature coronary heart disease. [Copyright &y& Elsevier]

Although the presence of central corneal opacities could limit the visual prognosis, Descemet Membrane Endothelial Keratoplasty (DMEK) was performed and completely resolved corneal edema and opacities on the visual axis. A rigid contact lens fitting was necessary to treat irregular astigmatism postoperatively. [ABSTRACT FROM AUTHOR]

We encountered 2 siblings with corneal opacities, anemia, decreased concentration of plasma esterified cholesterol, chronic renal failure and markedly reduced levels of plasma lecithin:cholesterol acyltransferase. Renal biopsy in 1 patient showed clear lacunae containing characteristic dense bodies in the glomerular and tubular basement membranes and the interstitium. One of the 2 siblings received a kidney transplant and is doing well after 9 years. This is the first report of this rare metabolic disease from India. [ABSTRACT FROM AUTHOR]

Clinically visible corneal opacities were observed in a patient with an extremely severe form of mucopolysaccharidosis II. In a second patient with an unusually mild form of mucopolysaccharidosis II, discrete corneal opacities were detected by slit-lamp examination. Thus clear corneae can no longer be regarded as a hallmark of mucopolysaccharidosis II. [ABSTRACT FROM AUTHOR]

Seven patients (14 eyes) diagnosed with X-linked ichthyosis were studied using the Schirmer test, biomicroscopy, tonometry, endothelial count, optical coherence tomography, Pentacam®, ocular surface analyser, and confocal microscopy. The mean age was 33.83±20.17 years (range: 7-64 years). The most frequent findings in biomicroscopy were Meibomian glands dysfunction (83.3%) and stromal corneal opacities (33%). The tear break-up time was found shortened in 25% of the eyes. Confocal microscopy (both eyes) revealed activated keratocytes with hyper-reflective particles inside them in the anterior stroma and outside them in the posterior stroma. It is believed that the inclusion of the use of confocal microscopy will help in a better understanding of the corneal pathology associated with ichthyosis X, as well as new characteristics of these patients., (Copyright © 2020 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.)