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Variations in ZNF469 have been associated with Brittle Cornea Syndrome that presents with bluish sclera, loss of vision after trivial trauma, arachnodactyly, and joint laxity. Detailed medical and family history, physical examination, and molecular analysis. A 21-year-old female presented with bluish discoloration of sclera, diminution of vision following trivial trauma in childhood along with hearing loss and systemic features of arachnodactyly and joint laxity. Clinical diagnosis of brittle cornea syndrome was made which was molecularly proven using next-generation sequencing which identified compound heterozygosity in ZNF469 for pathogenic and likely pathogenic nonsense variants. One variant namely NM_001367624.2:c.5882dup was identified in the exon 3 which was novel and classified as likely pathogenic according to American College of Medical Genetics (ACMG) criteria for variant classification. Another variant NM_001367624.2:c.8992C>T in the exon 2 was classified as pathogenic for Brittle Cornea Syndrome 1. The report adds to the allelic heterogeneity in ZNF469 causative of Brittle Cornea Syndrome 1 and shall acquaint the physicians about this potentially vision threatening, underdiagnosed, rare syndrome. [ABSTRACT FROM AUTHOR]

Abstract Purpose Blue sclera is a characteristic and common clinical sign of Osteogenesis Imperfecta (OI). However, there is currently no widely accepted, objective method for assessing and grading blue sclera in individuals with OI. To address this medical need, this study is aimed to design and validate a new method called ‘BLUES’ (BLUe Eye Sclera) to objectively identify and quantify the blue color in the sclera of patients affected by OI. Methods Sixty-two patients affected by OI and 35 healthy controls were enrolled in the present prospective study, for a total of 194 eyes analyzed. In the 'BLUES' procedure, eye images from patients with OI and control subjects were analyzed to assess and grade the blue level of the sclera using Adobe Photoshop Software. The validation process then involved comparing the results obtained with the ‘BLUES’ procedure to the judgement of experienced ophthalmologists (JEO). A receiver-operating characteristic (ROC) curve analysis was used to examine the overall discriminatory power. The sensitivity and specificity levels and the Cohen's Kappa (K) indexes of ‘BLUES’ and ‘JEO’ were estimated versus the standard OI diagnosis. The K indexes of ‘BLUES’ versus ‘JEO’ were also evaluated. Results The optimal cut-off point of the scleral blue peak was calculated at 17%. Our findings demonstrated a sensitivity of 89% (CI95%: 0.835–0.945) and specificity of 87% (CI95%: 0.791–0.949) for the ‘BLUES’ procedure with an agreement versus the diagnosis of OI of 0.747. In comparison, the sensitivity and specificity of ‘JEO’ ranged from 89 to 94% and 77% to 100%, respectively, with an agreement ranging from 0.663 to 0.871 with the diagnosis of OI. The agreement between ‘BLUES ‘and ‘JEO’ evaluations ranged from 0.613 to 0.734. Conclusions Our findings demonstrated an 89% sensitivity and an impressive 87% specificity of our method to analyze the blue sclera in OI. The results indicated high agreement with disease diagnosis and were consistent with evaluations by experienced ophthalmologists. The ‘BLUES’ procedure appears to be a simple, reliable and objective method for effectively identify and quantify the blue color of the sclera in OI.

Purpose: Blue sclera is a characteristic and common clinical sign of Osteogenesis Imperfecta (OI). However, there is currently no widely accepted, objective method for assessing and grading blue sclera in individuals with OI. To address this medical need, this study is aimed to design and validate a new method called 'BLUES' (BLUe Eye Sclera) to objectively identify and quantify the blue color in the sclera of patients affected by OI. Methods: Sixty-two patients affected by OI and 35 healthy controls were enrolled in the present prospective study, for a total of 194 eyes analyzed. In the 'BLUES' procedure, eye images from patients with OI and control subjects were analyzed to assess and grade the blue level of the sclera using Adobe Photoshop Software. The validation process then involved comparing the results obtained with the 'BLUES' procedure to the judgement of experienced ophthalmologists (JEO). A receiver-operating characteristic (ROC) curve analysis was used to examine the overall discriminatory power. The sensitivity and specificity levels and the Cohen's Kappa (K) indexes of 'BLUES' and 'JEO' were estimated versus the standard OI diagnosis. The K indexes of 'BLUES' versus 'JEO' were also evaluated. Results: The optimal cut-off point of the scleral blue peak was calculated at 17%. Our findings demonstrated a sensitivity of 89% (CI95%: 0.835–0.945) and specificity of 87% (CI95%: 0.791–0.949) for the 'BLUES' procedure with an agreement versus the diagnosis of OI of 0.747. In comparison, the sensitivity and specificity of 'JEO' ranged from 89 to 94% and 77% to 100%, respectively, with an agreement ranging from 0.663 to 0.871 with the diagnosis of OI. The agreement between 'BLUES 'and 'JEO' evaluations ranged from 0.613 to 0.734. Conclusions: Our findings demonstrated an 89% sensitivity and an impressive 87% specificity of our method to analyze the blue sclera in OI. The results indicated high agreement with disease diagnosis and were consistent with evaluations by experienced ophthalmologists. The 'BLUES' procedure appears to be a simple, reliable and objective method for effectively identify and quantify the blue color of the sclera in OI. [ABSTRACT FROM AUTHOR]

Abstract Background A report of a Brittle cornea syndrome (BCS) case with bluish scleral discoloration, keratoglobus, and myopia based on multimodal imaging modalities including in vivo confocal microscopy (IVCM), high-definition optical coherence tomography (HD-OCT) and scheimpflug corneal densitometry analysis. Case presentation A 36-year-old Chinese female patient presented with significant bluish discoloration of the sclera in both eyes, extreme corneal thinning with increased corneal curvature, increased central corneal densitometry, and nystagmus. She also had scoliosis, severe osteoporosis, and thyroid disease. Conclusions Timely diagnosis, early detection, and detailed follow-up are essential for BCS. There has been no report of a BCS evaluation performed by IVCM and corneal densitometry methods thus far in the literature. Furthermore, multimodal imaging can offer a more comprehensive view of BCS and contribute to a deeper understanding of the disease. Interestingly, this is a rare case of BCS in an adult with good vision, an intact cornea, and nystagmus.

Osteogenesis imperfecta (OI) is an inherited disorder characterized by bone fragility. Type I OI is the most common type of OI, and is autosomal dominantly-inherited. Type I OI develops due to pathogenic variants in the collagen 1 Alpha 1 (COL1A1) gene on chromosome 17. Collagen proteins are important components of the extracellular matrix of the trabecular meshwork, Schlemm's canal, and lamina cribrosa, which play a role in the development of glaucoma. To report a father and his daughter who were diagnosed with glaucoma and OI type I. Case report A 58-year-old man and his 31-year-old daughter were diagnosed with OI type 1 [NM_000088.4 (COL1A1): c.3008del (p.Pro1003fs)]. In addition, both subjects had glaucomatous optic neuropathy. In this report, we presented a pathogenic variant in a father and his daughter with OI and coexisting glaucoma. The abnormalities in collagen may contribute to the risk of glaucoma development in patients with COL1A1-associated OI. Therefore, screening for glaucoma may be indicated when caring for patients with this diagnosis. [ABSTRACT FROM AUTHOR]

Background: A report of a Brittle cornea syndrome (BCS) case with bluish scleral discoloration, keratoglobus, and myopia based on multimodal imaging modalities including in vivo confocal microscopy (IVCM), high-definition optical coherence tomography (HD-OCT) and scheimpflug corneal densitometry analysis. Case presentation: A 36-year-old Chinese female patient presented with significant bluish discoloration of the sclera in both eyes, extreme corneal thinning with increased corneal curvature, increased central corneal densitometry, and nystagmus. She also had scoliosis, severe osteoporosis, and thyroid disease. Conclusions: Timely diagnosis, early detection, and detailed follow-up are essential for BCS. There has been no report of a BCS evaluation performed by IVCM and corneal densitometry methods thus far in the literature. Furthermore, multimodal imaging can offer a more comprehensive view of BCS and contribute to a deeper understanding of the disease. Interestingly, this is a rare case of BCS in an adult with good vision, an intact cornea, and nystagmus. [ABSTRACT FROM AUTHOR]

Brittle cornea syndrome (BCS) is a genetic connective tissue disorder with discernible ocular features such as blue scleral and thin cornea that predominantly presents in younger children. We herein describe cases of three siblings with BCS, two of whom presented to us with open globe injuries following trivial trauma. Clinical examination of the other eye in both showed diffusely thin corneas and blue sclera. A systemic evaluation revealed sensorineural hearing loss and hyperextensible joints. The third sibling was screened and found to have features concurrent with BCS. This report highlights the challenges faced in the management of ocular injuries and consecutive complications in these patients.

Purpose: Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, hypotrichosis, microphthalmia, dental anomalies, and cutaneous atrophy. Because of the presence of a characteristic facial appearance, severe visual disturbance, and/or upper airway obstruction, most patients with HSS are diagnosed as having a congenital anomaly as a newborn or early in life. We report a case of HSS that was first recognized when the patient was in her seventh decade of life. Observations: A 68-year-old woman presented to our department for decreased vision in both eyes (OU). Her ocular medical history included “ocular injections” in her left eye (OS); laser iridotomies OU, cataract surgery OS, and removal of corneal opacity OU; she did not have a remarkable systemic medical history. At the initial visit to our department, her best-corrected visual acuity was 0.5 in her right eye (OD) and 0.1 OS with +4.0-diopter hyperopic correction OU, corneal opacity due to calcification OU, a shallow anterior chamber and iridotrabecular contact OD were observed. During the surgical intervention OD, the surgeon recognized a “blue sclera,” and the physicians initially suspected an underlying systemic malformation. Although mild, she presented with a thin beak-like nose and receding chin. In combination with the ocular features, the proportionate short stature, and a characteristic facial appearance, she was diagnosed with HSS. Conclusions and importance: Patients with HSS who had no clinically significant cosmetic, visual, and respiratory problems early in life may not be recognized as having HSS. The presence of corneal opacity, short axial length, and a blue sclera recognized by ophthalmologists can lead to the correct diagnosis of this congenital disorder.

Brittle cornea syndrome (BCS) is a genetic connective tissue disorder with discernible ocular features such as blue scleral and thin cornea that predominantly presents in younger children. We herein describe cases of three siblings with BCS, two of whom presented to us with open globe injuries following trivial trauma. Clinical examination of the other eye in both showed diffusely thin corneas and blue sclera. A systemic evaluation revealed sensorineural hearing loss and hyperextensible joints. The third sibling was screened and found to have features concurrent with BCS. This report highlights the challenges faced in the management of ocular injuries and consecutive complications in these patients. [ABSTRACT FROM AUTHOR]

Brittle cornea syndrome is among the few special scenarios in ophthalmology that are a nightmare not only for the operating surgeon but also for the patient. Here, the thin and fragile corneas are unable to maintain the shape and structural integrity of the globe and are more prone to minor traumatic or spontaneous corneal perforations. Suturing a brittle cornea and closure of the corneal perforation in a brittle cornea are very challenging requiring the utmost care and special precautions. If proper measures are not taken during the surgery, it may be difficult to salvage the eye. Hence, it is imperative to diagnose appropriately, suture effectively, taking necessary preventive measures in salvaging these corneas. This manuscript aims at providing tips for handling brittle corneal perforations. It will also discuss the problems encountered during surgery, highlight the suturing techniques that can be customized, and finally give an insight into postoperative care.

A 3-year-old girl presenting with blue sclera, hyperlaxity and developmental dysplasia of hip was found to have bilateral corneal thinning with astigmatism and keratoconus. By clinical exome sequencing, a frameshift mutation c.713_716 del TTTG p.(Val238Alafs*35) in PRDM5 gene causing brittle cornea syndrome 2 and a novel frameshift mutation c.401dup p.(Ser135Glufs*53) in SLC6A5 gene causing Hyperekplexia 3 were identified. No features of hyperekplexia were identified in proband. The novel homozygous mutation of SLC6A5 gene in the proband was presently asymptomatic but they were apprised of the possibility of developing neurological symptoms in the later years.

Brittle cornea syndrome is a rare generalized connective tissue disorder associated with extreme corneal thinning and other features such as blue sclera, keratoconus, keratoglobus, and high myopia. In this report, the mother and both the children had blue sclera of varying intensity along with corneal thinning in the children which was measurable only in the elder sibling.

Abstract Background To report a patient who presented with bluish scleral discoloration, keratoconus, and progressive high myopia. Case presentation A 6-year-old Chinese female patient presented with a significant bluish discoloration of the sclera in both eyes and extreme corneal thinning with anterior corneal protrusion. General pediatric physical examination was normal for all systems and no genetic disorders known were observed. Conclusions We aim to highlight the importance of diagnosis and treatment of patients suffering from Brittle cornea syndrome. Timely diagnosis and early provision of protective glasses seem to be the most important step in treating BCS. To our knowledge, this is the first case of BCS being reported in the Asia area.

Brittle cornea syndrome is among the few special scenarios in ophthalmology that are a nightmare not only for the operating surgeon but also for the patient. Here, the thin and fragile corneas are unable to maintain the shape and structural integrity of the globe and are more prone to minor traumatic or spontaneous corneal perforations. Suturing a brittle cornea and closure of the corneal perforation in a brittle cornea are very challenging requiring the utmost care and special precautions. If proper measures are not taken during the surgery, it may be difficult to salvage the eye. Hence, it is imperative to diagnose appropriately, suture effectively, taking necessary preventive measures in salvaging these corneas. This manuscript aims at providing tips for handling brittle corneal perforations. It will also discuss the problems encountered during surgery, highlight the suturing techniques that can be customized, and finally give an insight into postoperative care. [ABSTRACT FROM AUTHOR]

The sclera is a dense poorly vascularized connective tissue structure composed of Types I, III, IV, V, VI, and VIII collagen. The characteristic blue sclera is caused by thinness and transparency of the collagen fibers of the sclera that allow visualization of the underlying uvea. The sclera may be thinned in congenital diseases such as osteogenesis imperfecta or in acquired diseases such as iron deficiency anemia.

It concerns three siblings (two 28 year old twin boys and a 25 year old woman) who presented a previous history of rupture of eyeball in one eye and very poor vision in the other. At the first ophthalmoscopic and instrumental evaluation, three patients presented with bluish sclera and keratoglobus in the intact eye. A genetic analysis with whole exome sequencing was then performed on the three siblings, identifying a biallelic variant of the PRDM5 gene that led to the diagnosis of Brittle Cornea Syndrome (BCS), a rare autosomal recessive disorder characterized by corneal thinning and blue sclera. To preserve the only intact eye from possible breakage, the three siblings were trained in using protective measures (polycarbonate goggles etc.) to carry out close monitoring of symptoms and were asked to continue with follow-up visits for ocular and systemic diseases associated with BCS. Given the poor best corrected visual acuity achievable with glasses and contact lenses, penetrating keratoplasty was performed, achieving good visual acuity maintained in the 2-year follow-up in two of the three patients. Knowledge of this pathology and its clinical manifestations is essential for early diagnosis and correct management of this rare but very debilitating pathology. To our knowledge, this is the first case series of BCS reported in an Albanian population., Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Copyright of Turkish Journal of Trauma & Emergency Surgery / Ulusal Travma ve Acil Cerrahi Dergisi is the property of KARE Publishing 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.)

Copyright of Der Ophthalmologe is the property of Springer Nature 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.)

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.

Pellucid marginal corneal degeneration (PMCD) is a progressive corneal ectasia that ultimately results in high regular astigmatism and correction of this astigmatism is always challenging. However, when a PMCD patient develops a cataract, it provides a golden opportunity to treat this coexisting astigmatism with toric intraocular lens (IOL) implantation. Regular toric IOLs would correct astigmatism only up to 6 diopters in the IOL plane but higher astigmatism would require customization of such IOLs. Our case report describes the long term outcomes of customized toric IOL to tackle this high astigmatism during cataract surgery in PMCD cases. [ABSTRACT FROM AUTHOR]

A 3-year-old girl presenting with blue sclera, hyperlaxity and developmental dysplasia of hip was found to have bilateral corneal thinning with astigmatism and keratoconus. By clinical exome sequencing, a frameshift mutation c.713_716 del TTTG p.(Val238Alafs*35) in PRDM5 gene causing brittle cornea syndrome 2 and a novel frameshift mutation c.401dup p.(Ser135Glufs*53) in SLC6A5 gene causing Hyperekplexia 3 were identified. No features of hyperekplexia were identified in proband. The novel homozygous mutation of SLC6A5 gene in the proband was presently asymptomatic but they were apprised of the possibility of developing neurological symptoms in the later years. [ABSTRACT FROM AUTHOR]

Purpose: The purpose was to evaluate choroidal thickness via spectral domain optical coherence tomography (SD-OCT) and to compare the data with those of 24-h blood pressure monitoring, elastic features of the aorta, and left ventricle systolic functions, in patients with systemic hypertension. Materials and Methods: This was a case-control, cross-sectional prospective study. A total of 116 patients with systemic hypertension, and 116 healthy controls over 45 years of age, were included. Subfoveal choroidal thickness (SFCT) was measured using a Heidelberg SD-OCT platform operating in the enhanced depth imaging mode. Patients were also subjected to 24-h ambulatory blood pressure monitoring (ABPM) and standard transthoracic echocardiography (STTE). Patients were divided into dippers and nondippers using ABPM data and those with or without left ventricular hypertrophy (LVH+ and LVH-) based on STTE data. The elastic parameters of the aorta, thus aortic strain (AoS), the beta index (BI), aortic distensibility (AoD), and the left ventricular mass index (LVMI), were calculated from STTE data. Results: No significant difference in SFCT was evident between patients and controls (P ≤ 0.611). However, a significant negative correlation was evident between age and SFCT in both groups (r = −0.66/−0.56, P ≤ 0.00). No significant SFCT difference was evident between the dipper and nondipper groups (P ≤ 0.67), or the LVH (+) and LVH (-) groups (P ≤ 0.84). No significant correlation was evident between SFCT and any of AoS, BI, AoD, or LVMI. Discussion : The choroid is affected by atrophic changes associated with aging. Even in the presence of comorbid risk factors including LVH and arterial stiffness, systemic hypertension did not affect SFCT.

Purpose: The effect of hypothyroidism on the choroidal thickness (CT) was investigated in patients with subclinical hypothyroidism and overt hypothyroidism, and biochemically and clinically euthyroid patients receiving levothyroxine treatment. The patients were compared with healthy subjects. Materials and Methods: One eye of 71 hypothyroid and 22 healthy subjects between 20 and 40 years of age were included in this study. CT measurements were taken at the fovea and at 2 points that were 1500 μm nasal and temporal to the fovea using spectral-domain optical coherence tomography. Independent sample t-test′s and was used for statistical analysis of the data. Results: The CT was significantly thicker in hypothyroid patients compared to healthy subjects (P values were 0.013 for subfoveal, 0.015 for temporal and 0.020 for nasal segments). The intraocular pressure (IOP) and body mass index (BMI) were also significantly higher in hypothyroid patients (P values were 0.021 and 0.003, respectively). There was not a statistically significant difference in the BMI and IOP measurements between healthy subjects and euthyroid patients (P > 0.05). However, there was a statistically significant difference in the subfoveal, temporal and nasal CT measurements between healthy subjects and euthyroid patients (P values were 0.006, 0.031 and 0.013, respectively). Conclusions: All subgroups of hypothyroid patients had thicker CT compared to healthy subjects. Euthyroid patients receiving levothyroxine treatment had lower IOP, BMI levels, and serum lipid levels than patients with subclinical hypothyroidism and overt hypothyroidism.

An 18-year-old Indian girl with upper lip deformity presented with on and off painless swelling of her both upper eyelids for 3 years. Clinical evaluation revealed bilateral blepharochalasis, narrowing of horizontal palpebral fissure, decreased outer intercanthal distance, iris coloboma, cleft soft palate, bifid uvula, sensorineural deafness and double upper lip. Clinical examination of the thyroid, thyroid hormone assay and ultrasonography revealed normal thyroid gland structure and function. Ascher′s syndrome was diagnosed. To our knowledge, this is the first reported case of Ascher′s syndrome associated with iris coloboma, heterochromia iridum, and narrowing of horizontal palpebral fissure and decreased outer intercanthal distance secondary to lengthening of lateral canthal ligament.

Background/Aims: Information on eye diseases in blind school children in Allahabad is rare and sketchy. A cross-sectional study was performed to identify causes of blindness (BL) in blind school children with an aim to gather information on ocular morbidity in the blind schools in Allahabad and in its vicinity. Study Design and Setting: A cross-sectional study was carried out in all the four blind schools in Allahabad and its vicinity. Materials and Methods: The students in the blind schools visited were included in the study and informed consents from parents were obtained. Relevant ocular history and basic ocular examinations were carried out on the students of the blind schools. Results: A total of 90 students were examined in four schools of the blind in Allahabad and in the vicinity. The main causes of severe visual impairment and BL in the better eye of students were microphthalmos (34.44%), corneal scar (22.23%), anophthalmos (14.45%), pseudophakia (6.67%), optic nerve atrophy (6.67%), buphthalmos/glaucoma (3.33%), cryptophthalmos (2.22%), staphyloma (2.22%), cataract (2.22%), retinal dystrophy (2.22%), aphakia (1.11%), coloboma (1.11%), retinal detachment (1.11%), etc. Of these, 22 (24.44%) students had preventable causes of BL and another 12 (13.33%) students had treatable causes of BL. Conclusion: It was found that hereditary diseases, corneal scar, glaucoma and cataract were the prominent causes of BL among the students of blind schools. Almost 38% of the students had preventable or treatable causes, indicating the need of genetical counseling and focused intervention.

Introduction: Superior oblique split lengthening (SOSL) is done for weakening of superior oblique. It corrects the superior oblique overaction (SOOA) and A pattern. Its effect on the torsion of the eye is not known. We present our data on the effect of this particular procedure on torsion. Materials and Methods: We did a study of 16 patients (32 eyes) who underwent bilateral SOSL and compared the disc foveal angle (DFA) preoperatively and postoperatively. The split lengthening was done from 4 mm to 7 mm depending upon the overaction of superior oblique. Results: The mean age was 15.3 ± 8.4 years. Mean preoperative DFA in the right eye (RE) was −3.9° and in the left eye (LE) was −2.9°. Mean postoperative DFA in RE was 0.2° and in LE was 0.9°. The mean change in the DFA for RE was 4.1° ± 1.3° and for LE was 3.8° ± 1.2°. All the patients were aligned horizontally within 6 prism diopter and no pattern and no diplopia postoperatively. The A pattern was corrected in all the patient postsurgery. For each mm of surgery, an improvement of 0.8° was seen in the DFA. Conclusion: We report the effect of SOSL on torsion. The SOSL reduces intorsion postsurgery and is, therefore, a valuable procedure in SOOA where both pattern and in torsion needs to be corrected.

Context: This study was carried out as a part of an internal audit and is the largest series of patients having keratoglobus, published in the literature. Poor visual acuity of the patients indicates the blinding nature of the disease. Aims: We report our experience with patients having keratoglobus at a tertiary eye care center in India. Settings and Design : Retrospective study. Materials and Methods: We analyzed adults and pediatric patients (20/40 in 6/42 (14.3%) pediatric eyes and 15/53 (28.30%) adults. Visual acuity ranging from counting of fingers to no light perception was noted in 20/53 (37.74%) adults and 21/42 (50%) pediatric patients; 13/20 (65%) with blue sclera and 8/22 eyes (36.37%) without blue sclera. Vernal keratoconjunctivitis was present in one pediatric patient. Choroidal osteoma, retinitis pigmentosa, and retinal detachment were present in adults. Surgeries performed were corneal tear repair (5 eyes), tissue adhesive application (2 eyes), descematopexy (4 eyes) and penetrating keratoplasty (PK - 8 eyes: Three had post-PK glaucoma, graft failure-one eye, 4 patients wore scleral lens - prosthetic replacement of the ocular surface ecosystem). Conclusions: About 50% of pediatric eyes (65% having blue sclera) had no functional vision. Trivial trauma was responsible for corneal rupture indicating need for protective glasses. About 50% patients had post-PK glaucoma though grafts were clear.

Aim: To research ocular findings in patients with osteogenesis imperfecta (OI). Methods: Patients were grouped according to the type of OI. Age and gender data were noted. Refraction, intraocular pressure (IOP), and central corneal thickness (CCT) values were measured. Corneal topography images were obtained. Fundus examinations were made in all patients. Best corrected visual acuity (BCVA) and spherical equivalent (SE) values were recorded. Data about patients' scleral color changes were noted. Results: In this study, 30 eyes from 15 patients were examined. Of the 15 patients, 8 had OI Type 1, 5 had OI Type 4, and 2 couldn't be classified by Sillence's classification. One of these patients had a FKBP10 and the other a WNT1 mutation. The minimum CCT was 397 µm and maximum was 588 µm. Average CCT was 492±67.49 µm. Corneal apex keratometry (K) and corneal astigmatism values were higher for the OI Type 4 group than Type 1 (p<0.01, p<0.05, respectively). BCVA values were significantly higher in the OI Type 1 group than the OI Type 4 (p=0.002) Out of 30 eyes, 8 had blue sclera (26.7%). All of the patients with blue sclera had OI Type 1. There was no significant difference in terms of CCT, posterior elevation values, or corneal astigmatism values between patients with and without blue sclera (p>0.05). Corneal apex K value was statistically lower in the patients with blue sclera (p<0.05). Conclusion: Our findings in patients with OI included thinner CCT, blue sclera, steep K values especially in Type 4 group. So patients should be followed regularly for keratoconus. Because of corneal thinning, physicians must be aware of underestimation of IOP. Patients and their relatives should be advised to use protective glasses for probable trauma. [ABSTRACT FROM AUTHOR]

Dislocation of intraocular lens (IOL) is a serious complication of blunt ocular trauma in pseudophakic eyes. Here, a 72-year-old male patient with subconjunctival dislocation of an IOL (pseudophacocele) secondary to bull horn injury was reported. In this case report, a new sign named as "golden half ring sign" was described for easy identification and localization of subconjunctival dislocation of IOL in patient with open globe injury (surgical wound dehiscence) associated dense subconjunctival hemorrhage.

Fibromas are benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchymal tissue (a type of loose connective tissue). The term "fibroblastic" or "fibromatous" is used to describe tumors like the fibroma. This 69-year-old male presented to us with giant, multiple, very slowly progressive, painless, noninflammatory, soft, trans-illuminant, pedunculated lid swellings with a two decade history. There were no other swellings on the body. He was clinically normal on systemic examination except for the immature cataracts in both eyes. The diagnosis was confirmed on histopathology. Simple excision removed all the soft fibromas virtually leaving no scar. A review of literature world-wide using Medline Plus/PubMed revealed this to be the only reported case of multiple giant soft fibromas of the lid.

Spontaneous intraocular lens (IOL) dislocation is uncommon in the absence of any ocular areas with zonular weakness or trauma. There have been no reports of spontaneous capsular bag dislocation into the anterior chamber without an IOL. We report a rare, interesting case of spontaneous capsular bag anterior dislocation, without an IOL, into the anterior chamber with no history of genetic disease, ocular trauma, or pseudoexfoliation that might predispose to a zonular abnormality.

Pyomyositis is a primary bacterial infection of striated muscles nearly always caused by Staphylococcus aureus. Development of the intramuscular abscess involving the extra-ocular muscles (EOMs) remains an extremely rare process. We herein present a case of isolated EOM pyomyositis involving superior rectus muscle in a 2-year male child who was referred with complaints of swelling in left eye (LE) and inability to open LE since last 1-month. Orbital computed tomography (CT) scan showed a well-defined, hypo-dense, peripheral rim-enhancing lesion in relation to left superior rectus muscle suggestive of left superior rectus abscess. The abscess was drained through skin approach. We concluded that pyomyositis of EOM should be considered in any patient presenting with acute onset of orbital inflammation and characteristic CT or magnetic resonance imaging features. Management consists of incision and drainage coupled with antibiotic therapy.

A relatively simple and inexpensive technique to train surgeons in phacoemulsification using a goat′s eye integrated with a human cataractous nucleus is described. The goat′s eye is placed on a bed of cotton within the lumen of a cylindrical container. This is then mounted on a rectangular thermocol so that the limbus is presented at the surgical field. After making a clear corneal entry with a keratome, the trainer makes a 5-5.5 mm continuous curvilinear capsulorhexis in the anterior lens capsule, creates a crater of adequate depth in the cortex and inserts the human nucleus within this crater in the goat′s capsular bag. The surgical wound is sutured, and the goat′s eye is ready for training. Creating the capsulorhexis with precision and making the crater of adequate depth to snugly accommodate the human nucleus are the most important steps to prevent excessive wobbling of the nucleus while training.

We report a case of the primary deep orbital venous varix treated by endovascular coil embolization procedure by transfemoral catheterization. This method of treatment has the advantage of image-guided localization of the pathology, real-time management and confirmation of the success of the procedure in the sitting.

The trabectome is a novel form of ab interno trabeculectomy that ablates and remove the trabecular meshwork and the inner wall of Schlemm′s canal and subsequently expose the natural drainage pathway (the collector channels) to aqueous humor. Complications associated with the trabectome are few and among them is transient hypotony. We report a case of a prolonged ciliochoroidal effusion with hypotony after ab interno trabeculectomy using the trabectome with cyclodialysis cleft detected by 80 MHz ultrasound biomicroscopy in a previously neither nonoperated nor traumatized eye. Transient hypotony has been reported after the trabectome surgery. Very few cases were associated with inadvertent intraoperative cyclodialysis, but there are no cases of prolonged hypotony with ciliochoroidal effusion with cyclodialysis. In our case, associated transient intraoperative and postoperative hypotony with a history of chronically high pressure along with the possible contribution of low-grade postoperative inflammation may have precipitated the ciliochoroidal effusion with prolonged hypotony associated with cyclodialysis.

Internet is used by many patients to obtain relevant medical information. We assessed the impact of "Google" search on the knowledge of the parents whose ward suffered from squint. In 21 consecutive patients, the "Google" search improved the mean score of the correct answers from 47% to 62%. We found that "Google" search was useful and reliable source of information for the patients with regards to the disease etiopathogenesis and the problems caused by the disease. The internet-based information, however, was incomplete and not reliable with regards to the disease treatment.

We report a case of Benson′s Syndrome, a form of occipital Alzheimer′s disease, with posterior cortical atrophy on magnetic resonance imaging, in a 62-year-old male, who presented with visual problems, ascribed to the eyes, and had even undergone cataract/intraocular lens surgery in the right eye; and change of glasses 21 times over the past 2 years, with no apparent benefit. This case is of interest both on account of its rarity, and to highlight its features since the diagnosis may be missed in an ophthalmological setting where such patient may go for first consult.

Neoplasms of the lacrimal drainage system are uncommon, but potentially life-threatening and are often difficult to diagnose. Among primary lacrimal sac tumors, benign mixed tumors are extremely rare. Histologically, benign mixed tumors have been classified as a type of benign epithelial tumor. Here we report a case of benign mixed tumor of the lacrimal sac.

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. [ABSTRACT FROM AUTHOR]

Keratoglobus is a rare condition of bilateral corneal ectasia, which results in high myopia, irregular astigmatism, scarring, and rarely spontaneous globe rupture. Globoid protrusion of a clear, diffusely thin cornea is the pathology. The congenital form has been associated with blue sclera in which there is a systemic connective tissue disorder with abnormal collagen synthesis like Ehlers-Danlos syndrome, Marfan syndrome, and osteogenesis imperfecta. Some concomitant abnormalities reported with kertoglobus include joint hypermobility, dental and skeletal abnormalities, osteal fragility, and deafness. Acquired forms have been reported to be associated with vernal keratoconjunctivitis and thyroid ophthalmopathy. We report the case of a 16-year-old boy with keratoglobus who presented with a history of photophobia and a low vision in both eyes since birth. He has been followed up by our pediatric cardiology department due to multiple cardiac anomalies. He had hypermobility of large joints, easy bruising, thin and hyperextensible skin with visible veins, which were also described in his elder brother. We aimed to discuss the etiology and the association of keratoglobus with some systemic abnormalities caused by collogen tissue disturbance, and make a brief review about the recent literature concerning the management of keratoglobus patients. [ABSTRACT FROM AUTHOR]

Context: This study was carried out as a part of an internal audit and is the largest series of patients having keratoglobus, published in the literature. Poor visual acuity of the patients indicates the blinding nature of the disease. Aims: We report our experience with patients having keratoglobus at a tertiary eye care center in India. Settings and Design: Retrospective study. Materials and Methods: We analyzed adults and pediatric patients (<16 years) with keratoglobus, seen during 2008-2012. The age, gender, consanguinity, presenting ocular signs, ocular and systemic associations, visual acuity, corneal topography, and surgeries were documented. Results: Forty-eight patients (mean age 22 ± 15 years, 31 males) having keratoglobus were analyzed. 21 patients (42 eyes) were <16 years. Twelve eyes (16 events) had positive history of trauma. The presenting clinical signs were corneal scars/scars of tear repair (15 eyes), hydrops, healed and acute (14 eyes) and corneal or globe rupture (9 eyes). Best-corrected visual acuity was >20/40 in 6/42 (14.3%) pediatric eyes and 15/53 (28.30%) adults. Visual acuity ranging from counting of fingers to no light perception was noted in 20/53 (37.74%) adults and 21/42 (50%) pediatric patients; 13/20 (65%) with blue sclera and 8/22 eyes (36.37%) without blue sclera. Vernal keratoconjunctivitis was present in one pediatric patient. Choroidal osteoma, retinitis pigmentosa, and retinal detachment were present in adults. Surgeries performed were corneal tear repair (5 eyes), tissue adhesive application (2 eyes), descematopexy (4 eyes) and penetrating keratoplasty (PK - 8 eyes: Three had post-PK glaucoma, graft failure-one eye, 4 patients wore scleral lens - prosthetic replacement of the ocular surface ecosystem). Conclusions: About 50% of pediatric eyes (65% having blue sclera) had no functional vision. Trivial trauma was responsible for corneal rupture indicating need for protective glasses. About 50% patients had post-PK glaucoma though grafts were clear. [ABSTRACT FROM AUTHOR]

A 5-year-old boy was presented with a recurrent history of fractures since the age of 3 years. He had 2–3 admissions per year due to fall and had a history of fractures at his right ankle, left femur and three times at his left elbow. On further questioning, it was found that he was born via spontaneous vaginal delivery. Antenatal and postnatal periods were uneventful and neonatal and development histories were similar to other siblings. No similar illnesses, history of osteoporosis, recurrent fractures or eye problem were found in the family. Examination showed that he was a thin-built boy with a normal gait, vision, speech and hearing. It was noted he had an eye abnormality (Figure 1), but the ear, nose, throat and dentition were normal. The cranial nerve and other neurological tests were also normal. There was no joint hypermobility and the other systems and pure tone audiogram were normal.

The article presents a case study of a 31-year-old woman was admitted to the emergency department due to an accidental injury to her left thumb. Topics discussed include Hemoglobin level was found to be very low in routine examinations; and Gynecological disorder was considered as the etiological factor in the patient who had excessive menstrual bleeding, and she was directed to gynecology by arranging oral iron replacement.

Brittle cornea syndrome (BCS) is an autosomal recessive disorder characterised by extreme corneal thinning and fragility. Corneal rupture can therefore occur either spontaneously or following minimal trauma in affected patients. Two genes, ZNF469 and PRDM5, have now been identified, in which causative pathogenic mutations collectively account for the condition in nearly all patients with BCS ascertained to date. Therefore, effective molecular diagnosis is now available for affected patients, and those at risk of being heterozygous carriers for BCS. We have previously identified mutations in ZNF469 in 14 families (in addition to 6 reported by others in the literature), and in PRDM5 in 8 families (with 1 further family now published by others). Clinical features include extreme corneal thinning with rupture, high myopia, blue sclerae, deafness of mixed aetiology with hypercompliant tympanic membranes, and variable skeletal manifestations. Corneal rupture may be the presenting feature of BCS, and it is possible that this may be incorrectly attributed to non-accidental injury. Mainstays of management include the prevention of ocular rupture by provision of protective polycarbonate spectacles, careful monitoring of visual and auditory function, and assessment for skeletal complications such as developmental dysplasia of the hip. Effective management depends upon appropriate identification of affected individuals, which may be challenging given the phenotypic overlap of BCS with other connective tissue disorders. [ABSTRACT FROM AUTHOR]

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