UNASSIGNED: This case report delineates the intricacies and challenges encountered in cataract surgery in Ehlers-Danlos syndrome type VI presenting with advanced Keratoglobus (KG), severe cataract and brittle cornea.
UNASSIGNED: Despite meticulous planning and intraoperative precautions, including phacoemulsification with reduced intraocular pressure (low bottle height), the patient experienced corneal ruptures necessitating a shift to Extra Capsular Cataract Extraction (ECCE). Postoperative management involved corneal suturing and vigilant follow-up.
UNASSIGNED: Cataract surgery in patients with brittle cornea poses significant challenges due to extreme corneal fragility. Exhaustive pre-operative assessment, careful intraoperative techniques, and vigilant postoperative care are paramount for successful outcomes in these complex cases.

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.
METHODS: 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.

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.

OBJECTIVE: Alike keratoconus (KC), keratoglobus (KG) and pellucid marginal degeneration (PMD) belong to ectatic corneal diseases. While there are numerous studies on keratoconus pathophysiology, there is no exact knowledge on genetic and pathophysiological background of KG and PMD, so far. It is not yet clarified, whether KG and PMD are independent clinical entities or represent different stages of the same disease. Our purpose was to investigate key parameters concerning collagen synthesis, intracellular LOX expression and inflammation in corneal stromal cells of KG and PMD subjects, in vitro.
METHODS: Normal human keratocytes of corneas from the LIONS Cornea Bank Saar-Lor-Lux, Trier/Westpfalz and human keratocytes of KG and PMD patients were isolated and cultured as keratocytes. To examine Collagen I and V (Col I, Col V), heat shock protein 47 (Hsp47), Lysyl Oxidase (LOX), nuclear factor kappa B (NF-κB) mRNA and protein expression in all cell types, quantitative PCR and Western blot analysis has been performed.
RESULTS: Col5A1 mRNA expression was significantly lower in KG and PMD keratocytes and LOX mRNA expression was significantly higher in KG-keratocytes, compared to controls. Col1A1, Hsp47 and NF-κB mRNA expression and the analyzed protein expressions did not differ from controls, in KG or PMD.
CONCLUSIONS: Col5A1 mRNA expression is decreased in KG and PMD and LOX mRNA expression is increased in KG. Therefore, the pathophysiology of KG and PMD differs from KC and these seem to be from KC independent entities. The explanation of the peripheral corneal thinning in KG and PMD must be investigated in further studies.

Megalocornea and anterior megalophthalmos (megalocornea spectrum) disorders are typically defined by corneal diameter > 12.5 mm in the absence of elevated intraocular pressure. Clinical features overlap with keratoglobus but are distinct from buphthalmos and severe (globus) keratoconus. Megalocornea spectrum disorders and keratoglobus are primarily congenital disorders, often with syndromic associations; both can present with large and thin corneas, creating difficulty in diagnosis, however, only keratoglobus is typically progressive. Molecular genetics provide significant insight into underlying aetiologies. Nonetheless, careful clinical assessment remains intrinsic to diagnosis. Surgical management can be challenging due to the enlarged ciliary ring and weakened zonules in megalocornea spectrum disorders and the extreme corneal thinning of keratoglobus. In this review, the established literature on measurement of corneal diameter, diagnosis of megalocornea, anterior megalophthalmos and keratoglobus, differentiation from severe keratoconus, recent molecular genetics research and key surgical modalities in the management of these rare disorders are outlined and discussed.

Concomitant corneal ectasia and posterior lamellar corneal opacification is rare, and the genetic relationship between these two conditions is unclear. We report the genetic and clinical characterization of this phenotype in three unrelated individuals.
One previously reported affected individual and two unreported, unrelated, affected individuals were recruited for the study. Subjects and unaffected relatives underwent slit lamp examination, refraction, and multi-modal imaging. Saliva samples were obtained from two of the three affected individuals, from which DNA was extracted. Sanger sequencing was performed to identify mutations in genes associated with posterior amorphous corneal dystrophy (PACD), brittle cornea syndrome (BCS), and posterior polymorphous corneal dystrophy (PPCD), while copy number variation (CNV) analysis was used to identify CNV in the PACD locus.
Affected individuals demonstrated bilateral corneal steepening, stromal thinning and lamellar posterior corneal opacification. Corneal topography and tomography revealed conical or globular corneal steepening and decreased thickness. Anterior segment optical coherence tomography demonstrated hyperreflectivity of the posterior stroma in each of the affected individuals. Genetic testing did not detect a heterozygous deletion involving the PACD locus on chromosome 12 or a pathogenic mutation in the genes associated with BCS or PPCD.
Corneal ectasia may be associated with posterior lamellar stromal opacification that appears consistent with PACD. However, genetic testing for PACD as well as BCS and PPCD in affected individuals fails to reveal pathogenic deletions or mutations, indicating that other genetic factors are involved.

UNASSIGNED: To report how to manage a specific type of Descemet\'s membrane (DM) rupture during manual DALK with a concurrent donor-recipient disparity of curvature.
UNASSIGNED: Case report of two patients that had DM rupture during manual DALK with a concurrent donor-recipient disparity of curvature; the recipient bed was flatter (post-infectious scar, case 1) and steeper (keratoglobus, case 2) than the donor. Preoperative diagnosis, clinical exam, and best spectacle correct visual acuity (BSCVA) have been reported. A subtotal full-thickness circular cut of the recipient bed was performed to resolve a persistent double AC in case 1 (recipient flatter than donor). A total full-thickness circular cut of the recipient bed, creating a graft made by a DALK allograft and a \"DSEK autograft,\" was performed to avoid a refractory double AC in case 2 (recipient steeper than donor). Evaluated outcomes included postoperative BSCVA, endothelial cell count (ECC), graft clarity, rejection, and presence/absence of double AC.
UNASSIGNED: Surgery was successful in resolving/avoiding double AC. VA improved in both cases. No episodes of rejection were recorded. Graft remained clear at the last follow-up (6 years for case 1 and 4 years for case 2).
UNASSIGNED: The existence of a donor-recipient curvature disparity should be investigated as a possible underlying mechanism of refractory double AC. Total or subtotal full thickness recipient bed cut may be considered to repair donor-recipient curvature disparity in cases of DM rupture occurring during manual DALK. Repairing the DM rupture and avoiding a conversion to PK in high-risk transplant cases are crucial.

Pellucid marginal degeneration (PMD) is a non-inflammatory ectatic corneal disease characterized by a narrow band of corneal thinning separated from the limbus by a relatively uninvolved area 1-2 mm in width. It is a rare corneal disorder that shares many clinical characteristics with other corneal ectasias, such as keratoconus, keratoglobus or Terrien marginal degeneration. PMD usually starts later in life than keratoconus and progresses slower than keratoconus. Slit-lamp examination is very useful to distinguish PMD from other corneal ectatic disorders with inflammatory nature. Corneal topographic indices and the classical crab-claw topographic pattern cannot be used as the main tool to distinguish between PMD and keratoconus. New Scheimpflug imaging-based devices have shown the importance and usefulness of the pachymetric map for an appropriate diagnosis of PMD. In addition, biomechanical and densitometric properties have been studied as complementary techniques to help in the diagnosis of PMD.

We report the case of a 3-year-old boy presenting with bilateral keratoglobus and blue sclera in addition to hallux valgus, arachnodactyly, small joint hypermobility, mitral valve dysfunction and a history of generalized muscular hypotonia in early infancy. Molecular genetics provided evidence of two pathogenic mutations in the ZNF469 gene (compound heterozygosity) leading to the diagnosis of brittle cornea syndrome type 1. In addition to neuropediatric care, spectacles were prescribed to correct refractive error and for ocular protection. Owing to the thin cornea and sclera, eye injuries are the main cause for irreversible visual loss in this disease.

Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disease hallmarked by tortuosity, stenosis, and aneurysm development of large- and medium-sized arteries. Mutations in SLC2A10, a gene that encodes the facilitative glucose transporter GLUT10, cause ATS. Several case reports have noted associated ophthalmic findings such as keratoconus, keratoglobus, and myopia without detailed descriptions or standardized examinations. We report the ophthalmic findings in a cohort of compound heterozygous ATS patients and heterozygous carriers of SLC2A10 mutations.
Five ATS patients and three carriers were identified through an ATS specialty clinic at the Arkansas Children\'s Hospital in Little Rock, Arkansas. Patients underwent complete eye examinations, including corneal pachymetry, topography, and optical coherence tomography when indicated.
All five patients with ATS had myopia and thin corneas with an average central corneal thickness of 426 µm, and three had corneal ectasia, two with early keratoconus and one with keratoglobus and deep stromal corneal opacities. One patient had bilateral high irregular astigmatism, and one had unilateral high regular astigmatism. All carriers had myopia, one had corneal thinning, and one developed keratectasia in one eye many years after laser-assisted in situ keratomileusis (LASIK) surgery.
We document a spectrum of ophthalmic manifestations of ATS with universal findings of myopia, corneal thinning, and a propensity for corneal ectasia leading to keratoconus or keratoglobus. Heterozygous carriers may develop keratectasia after corneal refractive surgery. Our data support regular eye examinations for all patients carrying SLC2A10 mutations with follow-up tailored to clinical findings.