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Dandy-Walker Syndrome (D-WS) is a rare disorder with an incidence of 1%–2% of all central nervous system anomalies. The diagnosis can be challenging, especially in the prenatal period. Here, we present an extremely rare case of D-WS associated with bilateral congenital cataracts. A 36 weeks and 6 days old male baby presented with a Dandy-Walker variant associated with bilateral congenital cataract. Ophthalmological examination revealed microphthalmos and congenital cataracts present in both eyes with sclerocornea, iris coloboma, and zone 3 retinopathy of prematurity involving only the right eye. However, the right eye was salvageable. Skull transillumination was negative with no cranial bruit. He was admitted to the neonatal intensive care unit with breathing difficulties, maintained SpO2 with oxygen through prongs, and noninvasive continuous positive airway pressure for 7 days. He had two episodes of hypoglycemia with hypothermia. There was no significant finding in sepsis evaluation. The abdominal ultrasonography was normal. Echocardiogram was suggestive of patent foramen ovale. Mother's torch panel tested positive for cytomegalovirus immunoglobulin G antibodies. Magnetic resonance imaging brain suggested variant D-WS with dilation of cerebellar fossa and occipital lateral ventricle horn and lack of usual corpus callus structure. Intravenous antibiotics cefotaxime and amikacin were administered along with fluid supplementation. He was shifted to mother feed. The neonate was referred to the pediatric surgery department for further management.

Objective: In this retrospective single institution study, we investigated the clinicopathologic features and treatment characteristics of 90 patients with congenital corneal opacities (CCO) (117 eyes) who were 3 years and younger and treated at our hospital. Subject and Methods: We reviewed the clinical data of patients with CCO who presented for the first time for treatment at our hospital between January 1, 2017, and December 31, 2017. CCO were classified using the “STUMPED” (Sclerocornea, Tears in Descement’s membrane, Metabolic, Peters, Endothelial dystrophy and Dermoid) method and confirmed by pathological examination. ­Results: Seventy percent of the patients had unilateral CCO. Iridocorneal adhesions (61 eyes, 52.1%) and cataracts (22 eyes, 18.8%) were the 2 most common ocular abnormalities. Systemic abnormalities were present in 5 patients (5.6%), including growth retardation (4 patients) and congenital brain defects (1 patient). Eighty-five eyes (72.6%) underwent penetrating keratoplasty (PK), and lamellar keratoplasty (LK) was performed in 30 (25.6%) eyes. Forty-seven (95.9%) eyes with Peters anomaly and all 16 eyes with sclerocornea received PK, and all 24 eyes with dermoids were treated with LK. Conclusion: Our study demonstrates that CCO has varied manifestations in infants and young children in China. A thorough medical history, careful clinical examination, and the use of accessory examinations such as ultrasound biomicroscopy are critical for the accurate diagnosis and classification of CCO and to provide guidance on therapeutic choices.

Congenital corneal clouding often causes diagnostic dilemma; hence, detailed evaluation and timely intervention are required to decrease the morbidity. Various genetic, developmental, metabolic, and idiopathic causes of congenital corneal clouding include Peters anomaly, sclerocornea, birth trauma, congenital glaucoma, mucopolysaccharidosis, and dermoids. We report a case series of four neonates with congenital corneal clouding admitted in our neonatal intensive care unit, over 5 years. Two cases were of Peters anomaly, one each of primary congenital glaucoma and glaucoma secondary to congenital rubella.

When a newborn exhibits dermal aplasia on the face and neck, especially if there are ocular anomalies, further investigation is needed to determine if they have MiDAS (microphthalmia, dermal aplasia, and sclerocornea) or other syndromes with associated skin findings. It is essential to diagnose MiDAS syndrome early in life to allow for thorough workup to determine if there are any associated abnormalities in the child that require treatment. While the skin lesions of MiDAS syndrome heal spontaneously, other associated abnormalities require early intervention and can be life threatening.

Patient: Male, 11-month-old Final Diagnosis: Microphthalmos with massive retinal gliosis Symptoms: Microphthalmos with no useful vision, left eye Medication: — Clinical Procedure: Enucleation, left eye Specialty: Ophthalmology • Pathology Objective: Congenital defects/diseases Background: Massive retinal gliosis (MRG) is a rare benign intraocular tumor that results from the proliferation of well-differentiated glial cells in response to long-standing pathological processes, including glaucoma, trauma, chronic inflammation, vascular disorders, and congenital anomalies. This lesion is considered to be nonneoplastic and occurs ≥10 years after the predisposing insult. It usually affects children and can mimic other conditions, including uveal melanomas, vasoproliferative tumors of the retina, astrocytic hamartomas, and retinal hemangioblastomas. Case Report: We present a case of infant MRG with severe left eye microphthalmia. An 11-month-old boy was presented by his parents in the Oculoplastic Unit of a teaching university hospital with bilateral incomplete cryptophthalmos and small globes. An enucleation of the left globe was carried out to stimulate orbital bone growth and to improve the cosmetic outcome. The histopathological examination revealed a microphthalmic globe with sclerocornea and disorganized intraocular anterior segment structures. The retina was dysplastic with proliferating spindle-shaped glial cells showing fibrillar eosinophilic cytoplasm and filled most of the vitreous cavity. The glial origin of the cells was confirmed by the immunohistochemical markers (glial fibrillary acidic protein and synaptophysin), supporting the diagnosis of MRG. The optic nerve was markedly hypoplastic. Conclusions: MRG is a rare intraocular tumor that is clinically difficult to diagnose. A definite diagnosis can be made only on the basis of a histopathological examination and immunohistochemical markers.

The concepts of pediatric keratoprosthesis (KPro) and more recently infant keratoprosthesis are relatively new. Our first case was performed in 2003..

PURPOSE: To report the customized approach of patients with anophthalmia or microphthalmia with bespoke ocular prosthesis. METHODS: Retrospective analysis of case series. RESULTS: The study included cases with anophthalmia with upper eyelid deformity (one patient), microphthalmia and contralateral corectopia (one patient), microphthalmia with contralateral corneal graft (one patient), and congenital clinical anophthalmia with contralateral sclerocornea (one patient). Using techniques of embedded autologous hair and coating of adhesive pigment emulsion in the ocular prosthesis, the physical appearance of, respectively, an upper eyelid, corectopia, corneal graft, and sclerocornea was reproduced. CONCLUSION: Tailoring the ocular prosthesis to the distinct condition of the anophthalmic socket and contralateral eye adds to the success of rehabilitative prosthetic treatment of the patient.

Background. Sclerocornea is a rare congenital disorder characterized with the opacification of the cornea. Here, we report a nonconsanguineous Chinese family with multiple peripheral sclerocornea patients spanning across three generations inherited in an autosomal dominant manner. Methods. This is a retrospective case series of a peripheral sclerocornea pedigree. Comprehensive ophthalmic examinations were conducted and assessed on 14 pedigree members. Whole-exome sequencing was used to identify the genetic alterations in the affected pedigree members. Lymphoblastoid cell lines (LCLs) were established using blood samples from the family members. Functional tests were performed with these cell lines. Results. Six affected and eight unaffected members of a family with peripheral sclerocornea were examined. All affected individuals showed features of scleralization over the peripheral cornea of both eyes. Mean horizontal and vertical corneal diameter were found significantly decreased in the affected members. Significant differences were also observed on the mean apex pachymetry between affected and unaffected subjects. These ophthalmic parameters did not resemble that of cornea plana. A RAD21C1348T variant was identified by whole-exome sequencing. Although this variant causes RAD21 R450C substitution at the separase cleavage site, cells from peripheral sclerocornea family members had no mitosis and ploidy defects. Conclusion. We report a family of peripheral sclerocornea with no association with cornea plana. A RAD21 variant was found cosegregating with peripheral sclerocornea. Our results suggest that RAD21 functions, other than its cell cycle and chromosome segregation regulations, could underline the pathogenesis of peripheral sclerocornea.

Sclerocornea is a cornea opacification disorder. Disorganized corneal stroma fibrils are observed in patients’ cornea. Previously we identified a RAD21C1348T variant that is associated with a peripheral sclerocornea pedigree. To explore whether this RAD21 variant can induce sclerocornea-related phenotype, and to investigate the possible mechanisms of such phenotype, the orthologous rad21 wild-type and variant mRNAs were injected into Xenopus laevis embryos and the developed eyes were subjected for histological examination. Transmission electron microscopy was applied for corneal stroma organization check. rad21 is highly expressed in the eye region during X. laevis development. Disrupted eye development was observed in the rad21 variant injected embryos. Disorganized corneal stroma and decreased diameters of collagen fibrils were observed in the rad21 variant injected X. laevis eyes. These eye defects can be rescued by overexpression of the wild-type rad21. Histological examination found stroma attracting center, a key structure in X. laevis corneal development, was impaired in rad21 variant injected embryos. Our results suggest a key role of RAD21 during corneal development. Our data indicates the RAD21R450C variant contributes to peripheral sclerocornea by disturbing collagen fibril organization in the corneal stroma.

To determine the antiseptic efficacy of timely intraoperative iodine irrigation during cataract surgery. A total of 198 eyes of 99 cataract surgery patients were studied. The eyes were randomly assigned to treatment with or without timely intraoperative iodine irrigation of the surgical field with an iodine compound equivalent to 0.33 % povidone-iodine. In eyes in the timely intraoperative iodine irrigation group, the ocular surface was irrigated twice intraoperatively—before the initial incision and before insertion of the intraocular lens (IOL). The efficacy of the antiseptic treatment was evaluated by culture tests using scrapings of the surface of the sclerocornea and conjunctiva to the left of the incision and by broad-range real-time PCR for bacterial 16S ribosomal DNA using scrapings from the right side of the incision. Following intraoperative application of the iodine, bacteria were not detected in cultures of the samples. For the control eyes without timely iodine irrigation, cultures of samples from five and two eyes were positive before the initial incision and before IOL insertion, respectively. The bacterial DNA copy number before the initial incision was 1.7 ± 0.5 × 103, which was significantly lower than that of the control eyes (1.7 ± 0.6 × 104). For both groups of eyes, the bacterial DNA copy number was significantly lower before the IOL insertion depending on the time course. When the antiseptic effect of the iodine irrigation and time course on bacterial DNA copy number was analyzed using generalized mixed linear regression, both were found to be significantly effective. No significant intraoperative epithelial defect was observed. The postoperative corneal endothelial cell count did not differ significantly between the two groups of eyes. Timely iodine irrigation can serve as a simple and useful adjunctive disinfection step in cataract surgery.

There are only few case reports of congenital anterior staphyloma, an extremely rare condition. We report a case of congenital anterior staphyloma presenting as corneal clouding. A preterm girl baby was noted at birth to have bilateral corneal opacity with left sided microcornea. Ophthalmological evaluation revealed anterior staphyloma in right eye &total leucomatous corneal opacity in left eye. Despite antiglaucoma treatment, right sided bupthalmos & corneal thinning worsened. Corneal transplant was done at 7 months of age & baby improved symptomatically.Congenital anterior staphyloma occurs due to developmental aberration or secondary to inflammation. There are various genetic, metabolic, developmental & idiopathic causes of congenital corneal clouding like congenital glaucoma, birth trauma, peters anomaly, dermoid tumors, sclerocornea, infectious/inflammatory processes, metabolic causes & excess prenatal maternal consumption of alcohol. Complete evaluation of congenital corneal clouding include slit lamp biomicroscopy, funduscopy, tonometry, gonioscopy, ultrasonography, photo screening, ultrasound biomicroscopy & CT scanning in selected cases. Treatment is primarily surgical followed by management of amblyopia & optical therapy. Early penetrating keratoplasty, primary combined trabeculotomy-trabeculectomy & corneal grafting are associated with a favorable visual outcome. Early identification of ophthalmological problems in infancy & prompt intervention is mandatory for conditions like congenital corneal clouding.

Purpose: To evaluate causes and management of congenital corneal opacities (CCO) diagnosed in a tertiary care eye center and to compare the data with a previous study at the same institution. Methods: Computerized medical records in all patients with congenital corneal opacities diagnosed in the Cornea Service at Wills Eye Hospital (Philadelphia, PA) between January 1, 2007, and December 31, 2015, were retrospectively reviewed. Children aged 12 years and younger at the first visit were included in the study. Patients’ demographics, ocular diagnosis, laterality, associated ocular abnormalities, other ocular surgery performed prior or subsequent to the first visit, and their treatment were extracted from the medical records. Results: A total of 77 eyes in 56 patients were examined. The mean age at presentation was 32.8 ± 44.2 months, with the mean follow-up period of 26.7 ± 30.1 months. The most frequent diagnosis was Peters anomaly (53.2%), followed by limbal dermoid (13.0%), aniridia with glaucoma and microphthalmos (6.5%), sclerocornea and congenital glaucoma (5.2%), idiopathic (3.9%), Axenfeld-Rieger anomaly and Hurler syndrome (2.6%), and microcornea (1.3%). Primary keratoplasty was performed in 26 eyes, with the outcome rate in the clear cornea of 76.0% during the follow-up. Conclusion: Peters anomaly is the most common cause of congenital corneal opacities encountered at our institution. Penetrating keratoplasty is the most frequent choice of corneal surgery to treat congenital corneal opacities. Additional interventions during penetrating keratoplasty were moderately positively correlated with graft failure. This study also shows the rates of some etiologies of that changed over the recent decades in our tertiary care Cornea Service. Although Peters anomaly remains the most common presenting reason for congenital corneal opacities, its rate appears to be increasing over the recent decade. Congenital corneal opacities due to birth trauma, which is one of the preventable causes, were observed in a previous study in our clinic; however, no new cases were noted in this study.

Purpose To describe 2 sporadic Mexican patients having congenital bilateral, total sclerocornea, aphakia, and microphthalmia associated with novel mutations in the FOXE3 gene. Methods Two affected individuals with congenital bilateral, total sclerocornea, aphakia, and microphthalmia underwent detailed examinations including slit-lamp examination, visual acuity, and intraocular pressure measurements. Ocular ultrasonography and ultrasound biomicroscopy were performed. Genomic DNA was isolated from blood leukocytes in each subject, and molecular analysis of the FOXE3 gene was performed. For cosegregation analysis, presumable pathogenic variants were tested by Sanger sequencing in parental DNA. Results Molecular screening of FOXE3 was performed in 2 cases with congenital bilateral, total sclerocornea, aphakia, and microphthalmia. In patient 1, genetic analysis demonstrated a novel homozygous c.291C>G (p.Ile97Met) FOXE3 pathogenic variant. In patient 2, compound heterozygosity for the novel c.387C>G (p.Phe129Leu) transversion and for the previously reported c.244A>G (p.Met82Val) transition, was recognized. Conclusions The sclerocornea-microphthalmia-aphakia complex is a severe malformative ocular phenotype resulting from mutations in the FOXE3 transcription factor. To date, patients from at least 14 families with this uncommon ocular disorder have been described. The identification of 2 novel pathogenic variants in our patients expands the mutational spectrum in FOXE3-related congenital eye disorders. In addition, we performed a review of the clinical and genotypic characteristics of all published patients carrying biallelic FOXE3 mutations.

Our objective is to evaluate the literature regarding selected genetic diseases of the cornea, including megalocornea, keratoglobus, keratoconus, cystinosis, the mucopolysaccharidoses, sclerocornea, Peters' anomaly, familial dysautonomia, and various corneal dystrophies. The transparency of the cornea is a consequence of uniformity in both size and spacing of the collagen lamellae. The cornea's clarity depends on a delicate biochemical and structural balance; consequently, genetic disorders that disrupt either its metabolic or anatomic function can cause opacity and vision loss. Many childhood corneal diseases have a genetic etiology and are associated with known syndromes. Each disorder has unique associated set of possible complications. Prognosis often depends on the extent of opacity and disorganization of the anterior segment. Corneal transplantation has been performed for these disorders with variable success.

To report on the use of endoscopic cyclophotocoagulation (ECP) to treat congenital glaucoma in a triple X female with microphthalmia, dermal aplasia, and sclerocornea (MIDAS) syndrome.The patient demonstrated linear streaks on the face and neck consistent with dermal aplasia. The corneas were scleralized with ectatic areas of corneal thinning, and the eyes were microphthalmic. Ultrasound biomicroscopy demonstrated congenital aphakia and iris stumps. The patient had elevated intraocular pressure (IOP) that responded to topical glaucoma therapy in the right but not the left eye. Intraoperative endoscopy of the posterior segment revealed multiple hypopigmented chorioretinal lacunae surrounding a pale, cupped optic nerve. ECP of the ciliary processes in the left eye led to marked improvement in IOP.Patients with MIDAS syndrome can develop congenital glaucoma secondary to angle dysgenesis. This is the first case report to demonstrate the safe and effective use of ECP to treat elevated IOP in a patient with MIDAS.

Anterior segment development involves important contributions from neural crest cells as well as surface ectoderm. Transcription factors and other genetic influences orchestrate proper morphogenesis. Several forms of anterior segment dysgenesis, such as sclerocornea and Peters anomaly, lead to corneal opacity. However, this traditional terminology allows neither genotype–phenotype correlations nor prediction of outcomes following surgical intervention. A descriptive classification is presented as more valuable alternative. Corneal dystrophies, epibulbar choristomas, peripheral sclerocornea, and CYP1B1 cytopathy are discussed as forms of primary neonatal corneal opacification. Secondary corneal opacification can be congenital, due to kerato-irido-lenticular or irido-trabecular dysgenesis, or acquired following infection, trauma, or metabolic disease. Peters anomaly, aniridia, and Axenfeld-Rieger syndrome are discussed separately. Finally, congenital anomalies of corneal size—microcornea and megalocornea—and shape—cornea plana and keratoglobus—are reviewed.

PURPOSE We aim to analyze the results of Boston type 1 keratoprosthesis from the Indian subcontinent, with particular emphasis on patient education and perioperative care. DESIGN Retrospective interventional case series. METHODS This was a retrospective study of patients operated on for Boston type 1 keratoprosthesis between January 2008 and April 2011. RESULTS Of 20 patients who underwent surgery, the indications included silicone oil-induced keratopathy (8 eyes; 40%), chemical injury (7 eyes; 35%), repeated graft failures (3 eyes, 15%), and 2 pediatric eyes (10%)-1 sclerocornea and 1 congenital anterior staphyloma. The mean follow-up was 21.8 months ranging from 6 to 45 months. Best corrected postoperative visual acuity was noted to be greater than 20/200 in 16 (80%) of 20 eyes. Anatomic integrity was maintained in 18 eyes (90%). Repeated corneal melt necessitated removal of the prosthesis with corneal transplant in 2 eyes. There was no infection or endophthalmitis in any of the 20 eyes. CONCLUSIONS The good anatomic and functional results, with no postoperative infection in our experience with Boston keratoprosthesis over a 3-year period, are encouraging. Strict inclusion criteria and ensuring good patient compliance are important factors in determining good results with a low risk of infection in a tropical developing country.

Purpose To compare a transconjunctival single-plane sclerocorneal incision with 2 tiny conjunctival cuts at both ends and a clear corneal incision (CCI) in cataract surgery. Setting Department of Ophthalmology, Institute of Clinical Medicine, University of Tsukuba, Ibaraki, Japan. Methods Patients having routine cataract surgery were randomly divided into 2 groups based on incision type; that is, transconjunctival single-plane sclerocorneal or CCI. The incidence of intraoperative ballooning of the conjunctiva (chemosis) and the percentage of eyes that required stromal hydration to securely close the wound in each group were recorded and compared. Results Each group comprised 61 eyes (61 patients). No eye in the transconjunctival sclerocorneal group and 6 eyes (9.8%) in the CCI group developed intraoperative conjunctival chemosis ( P = .027, Fisher exact probability test). Corneal stromal hydration was required in 2 eyes (3.3%) and 15 eyes (24.6%), respectively ( P = .001). Conclusion The transconjunctival single-plane sclerocorneal incision was effective and combined the merits of CCI incisions and sclerocorneal incisions. Financial Disclosure No author has a financial or proprietary interest in any material or method mentioned.

Congenital clinical anophthalmos and blind microphthalmos are extremely rare conditions, with a prevalence rate of 1–20/100,000 newborns. Distribution of the conditions is approximately equal between males and females. Unilateral anophthalmos is encountered almost twice as frequently as bilateral anophthalmos. Microphthalmos is the least-common reason why patients present for surgery. With a single exception, the family histories were not positive for the conditions. The course of pregnancy itself was routinely unexceptional. Consanguinity and pathological chromosomal abnormalities point to the possible role of genetic factors, which are increasingly becoming the focus for research. As expected, obstetric delivery was not a determinant of the clinical condition. Comprehensive evaluation of each case requires a thorough ophthalmological examination supplemented by assessment by an experienced pediatrician. Associated systemic findings were more numerous in patients with anophthalmos (50%) than in those with microphthalmos (17.6%). There was no difference in the rate of developmental anomalies in unilateral and bilateral anophthalmos. Typically, the pathology is characterized by Goldenhar syndrome and clefting. Magnetic resonance imaging (MRI) is generally necessary to detect developmental cerebral anomalies. Nasolacrimal duct pathology was present in about 75% of the affected children. Canalicular stenoses were the most common finding. Twenty-five percent of patients with unilateral microphthalmos and 50% of patients with unilateral anophthalmos had anomalies in the fellow eye, chiefly in the form of coloboma, dermoid, sclerocornea, and glaucoma. On account of this pathology in a single eye, 2 (12.5%) of the patients with unilateral microphthalmos and 13 (34.2%) of the patients with unilateral anophthalmos, as well as all 20 patients with bilateral anophthalmos, were classified as legally blind. Therefore, the overall blindness rate was 17.6% in microphthalmos and 3.4 times higher (56.9%) in anophthalmos.

We report the case of a now 6-year-old girl who was born with different abnormalities in each eye. The right eye showed a total sclerocornea. At the age of 4 years we performed a perforating keratoplasty. On the left eye a large staphyloma developed. The staphyloma was excised and a cornea with a scleral rim was fixed in. This transplant became cloudy under a conjunctival flap and blepharoplasty. In addition to the clinical follow-up, histological and immun-histochemical examinations of the corneas were carried out.

Here we report on a 1-year-old Japanese girl with psychomotor retardation, bilateral congenital corneal opacity and bilateral postaxial polysyndactyly of the feet. Although she had a normal female karyotype, our in-house bacterial artificial chromosome (BAC)-based array-CGH analysis successfully detected at least a 2.7-Mb heterozygous deletion at 14q22.1-q22.3 harboring 18 protein-coding genes. Among the genes, BMP4 was a candidate for the gene causing the abnormalities of both the eye and digits. It was previously reported that the BMP family was correlated with the morphogenesis of digits and ocular development, and Bmp4 heterozygous null mice revealed skeletal abnormalities including polydactyly and ocular anterior segment abnormalities. Patients with a deletion including BMP4 also hadabnormalities of the eye and digits. These previous reports support that a haplo-insufficiency of the BMP4 gene likely caused the congenital ocular and digit abnormalities. Moreover, among the other genes contained in the deletion, GMFB is a candidate for the gene responsible for the psychomotor retardation.

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

A newborn presented to genetics with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea. The patient survived for 8 months before succumbing to respiratory failure. Exome sequencing revealed a compound heterozygous mutation in theB3GALT6gene. Mutations in this gene have been associated with both Ehlers- Danlos syndrome, progeroid type 2 and spondyloepimetaphyseal dysplasia with joint laxity type 1. These diagnoses encompass the skeletal and joint findings. Our patient expands the phenotype of these diagnoses, as anterior segment eye anomalies have not been described with either syndrome, and he is much more profoundly affected. Interestingly, our patient fits the description of a rare genetic disease referred to as Al-Gazali syndrome, for which the genetic cause is unknown.

International audience; BACKGROUND: Segmental Xp22.2 monosomy or a heterozygous HCCS mutation is associated with the microphthalmia with linear skin defects (MLS) or MIDAS (microphthalmia, dermal aplasia, and sclerocornea) syndrome, an X-linked disorder with male lethality. HCCS encodes the holocytochrome c-type synthase involved in mitochondrial oxidative phosphorylation (OXPHOS) and programmed cell death. METHODS: We characterized the X-chromosomal abnormality encompassing HCCS or an intragenic mutation in this gene in six new female patients with an MLS phenotype by cytogenetic analysis, fluorescence in situ hybridization, sequencing, and quantitative real-time PCR. The X chromosome inactivation (XCI) pattern was determined and clinical data of the patients were reviewed. RESULTS: Two terminal Xp deletions of >=11.2 Mb, two submicroscopic copy number losses, one of ~850 kb and one of >=3 Mb, all covering HCCS, 1 nonsense, and one mosaic 2-bp deletion in HCCS are reported. All females had a completely (>98:2) or slightly skewed (82:18) XCI pattern. The most consistent clinical features were microphthalmia/anophthalmia and sclerocornea/corneal opacity in all patients and congenital linear skin defects in 4/6. Additional manifestations included various ocular anomalies, cardiac defects, brain imaging abnormalities, microcephaly, postnatal growth retardation, and facial dysmorphism. However, no obvious clinical sign was observed in three female carriers who were relatives of one patient. CONCLUSION: Our findings showed a wide phenotypic spectrum ranging from asymptomatic females with an HCCS mutation to patients with a neonatal lethal MLS form. Somatic mosaicism and the different ability of embryonic cells to cope with an OXPHOS defect and/or enhanced cell death upon HCCS deficiency likely underlie the great variability in phenotypes.

Purpose To report the preliminary results of a surgical technique for transplantation of posterior corneal tissue through a sclerocorneal pocket incision for corneal endothelial disorders. Design Retrospective, noncomparative, interventional cases series. Participants and intervention In seven sighted human eyes, a deep stromal pocket was created across the cornea through a 9.0-mm superior scleral incision. A 7.0- or 7.5-mm diameter, posterior lamellar disc was excised and replaced by a ‘same size' donor posterior disc, without suture fixation. The scleral incision was sutured. Main outcome measures Intra- and postoperative complications, best spectacle-corrected visual acuity, keratometry, topography, biomicroscopy, pachymetry, and endothelial cell density were evaluated. Results Six to 12 months after surgery, all transplants were clear and in position. Best spectacle-corrected visual acuity was limited by preexisting maculopathies in two eyes and varied from 20/80 to 20/20. Postoperative astigmatism averaged 1.54 diopters (D; standard deviation [SD] ± 0.81 D), pachymetry averaged 0.49 mm (SD ± 0.09 mm), and postoperative endothelial cell density averaged 2520 cells/mm 2 (SD ± 340 cells/mm 2 ). In one eye, a microperforation occurred during stromal pocket dissection so that the procedure was converted into a penetrating keratoplasty. Conclusions Posterior lamellar keratoplasty through a sclerocorneal pocket incision is a feasible surgical approach to manage corneal endothelial disorders.

· Background: To detect the associated anomalies in patients with Axenfeld-Rieger syndrome is clinically important, because early treatment for such anomalies is crucial to both visual and systemic development. This study was conducted to clarify the associated anomalies in the syndrome. · Methods: We evaluated 21 patients with Axenfeld-Rieger syndrome encountered at Nagoya City University Hospital over a 16-year period. Patients who presented with a prominent Schwalbe’s line accompanying the iris strands were diagnosed as having Axenfeld-Rieger syndrome. · Results: The series consisted of 9 males and 12 females, ranging in age from 1 month to 41 years, mean 15.4±12.7 (SD) years. The syndrome was bilateral in 17 cases and unilateral in 4 cases. Hypoplasia of the iris was observed in 10 eyes of 6 patients. The associated ocular anomalies included sclerocornea in 6 eyes of 3 patients, developmental glaucoma in 5 eyes of 3 patients, persistent pupillary membrane in 4 eyes of 2 patients, microphthalmos in 3 eyes of 2 patients, and typical iris coloboma in 1 eye. Of 10 eyes with hypoplasia of the iris, 5 exhibited glaucoma. The accompanying systemic anomalies included 9 cases of dental anomalies, 5 of facial anomalies, and 3 of Alagille syndrome. · Conclusions: All of the associated ocular and systemic anomalies appeared to arise from the maldevelopment of the neural crest cells. Patients with Axenfeld-Rieger syndrome should therefore be examined for the presence of anomalies in the tissues of neural crest origin. Patients with hypoplasia of the iris should be checked for glaucoma.

We report on a male child with "apple peel" atresia, associated with microcephaly, with subsequent hydrocephalus, short stature, moderate global developmental delay and ocular abnormalities. A similar phenotype was previously reported by Stromme et al. in 1993 in female siblings, and this description of another affected individual provides further evidence for this being a distinct syndromic entity.

AIM—To describe the prognosis and complications of corneoscleral transplantation in the management of end stage eye disease. METHODS—A case series is presented of 23 patients who have undergone corneoscleral transplantation (⩾11 mm). Patients were examined for visual acuity, intraocular pressure, recurrence of disease process, epithelialisation of the graft, signs of rejection, and other potential complications. RESULTS—14 patients retained their eye, with six maintaining a clear graft. Vision ranged from 6/30 to no perception of light. 13 patients developed glaucoma (range 25-69 mm Hg), with six patients requiring surgical intervention. 12 patients required tarsorrhaphy to promote epithelialisation. Only two grafts resulted in typical rejection. CONCLUSIONS—The technique of corneoscleral transplantation can salvage otherwise end stage eye disease, but the results are poor with respect to maintenance of vision. These patients need careful follow up because of potential complications of glaucoma, epithelial defects, rejection, and recurrence of disease. Keywords: corneoscleral graft; end stage corneal disease; sclerokeratoplasty

Hautdefekte in segmentaler Anordnung und Mikrophthalmus sind Leitsymptome des kongenitalen Varizellensyndroms. Ein genetisch bedingtes Krankheitsbild, das MIDAS-Syndrom (MI=Mikrophthalmus; DA=dermal aplasia; S=Sklerokornea), hat eine ahnliche klinische Symptomatik. Dieser Erkrankung liegt eine terminale Deletion des kurzen Arms des X-Chromosoms im Bereich Xp 22.3 zugrunde. Diskussion: Wir stellen das Krankheitsbild anhand eines Falls vor und diskutieren weitere Differentialdiagnosen wie das Aicardi- und das Goltz-Gorlin-Syndrom.

To elucidate the pathogenesis of posterior embryotoxon, we estimated its incidence in our clinic and evaluated its associated ocular and systemic anomalies. Slit-lamp and gonioscopic examinations were performed on 440 randomly selected patients at Nagoya City University Hospital over a 10-month period. Posterior embryotoxon was detected in 107, 50 bilateral and 57 unilateral, cases (24.3%). Twelve (11.2%) of the 107 cases had open-angle glaucoma. Accompanying ocular anomalies included six cases of sclerocornea, two each of persistent pupillary membrane and familial exudative vitreoretinopathy, and 1 each of melanocytoma of the optic nervehead, choroidal nevus and subconjunctival dermoid cyst. Associated systemic anomalies included three cases of Alagille syndrome, two of congenital biliary atresia, and one each of congenital facial palsy with microtia, congenital adrenal hyperplasia, empty sella syndrome, Hirschsprung disease and Wilson disease. Many of these ocular and systemic anomalies were caused by the maldevelopment of neural crest cells. Patients with posterior embryotoxon should be examined for the possible presence of open-angle glucoma and for ocular and systemic anomalies related to maldevelopment of neural crest cells.

PURPOSE Many surgical and nonsurgical techniques for the treatment of cystic and/or diffuse sheet-like epithelial ingrowth of the anterior chamber led to recurrences or even enucleation of the eye. PATIENTS AND METHODS There were 32 (62.7%) men and 19 (37.3%) women ranging in age from 1 month to 80 years (median, 55.5 years). Cystic epithelial ingrowth occurred in 45 patients, and diffuse sheet-like epithelial downgrowth in 6 patients. Block excision consisted of simultaneous en bloc removal of epithelial ingrowth together with adjacent iris, pars plicata of the ciliary body, and cornea and sclera in full-thickness. The resulting defect was covered with a tectonic corneoscleral graft. The median follow-up was 7.9 years. RESULTS The main causes for epithelial ingrowth were trauma (41.2%) and complicated cataract extractions (27.5%). Eleven patients had undergone surgery of epithelial ingrowth before block excision, elsewhere. Epithelial ingrowth involved up to 5 clock hours of the circumference of the chamber angle (median, 3 clock hours). The median preoperative visual acuity was 0.3 (range, hand motions -1.0). The median diameter of the block excision was 8.0 mm (range, 5.5-12.0 mm). The main postoperative complications were vitreous hemorrhage (27.5%) and corneal endothelial decompensation (21.6%). The median postoperative visual acuity was 0.2. Visual acuity was > or = 0.3 in 43.1% of patients and < 0.1 in 35.3% of patients. Visual results were significantly better after simultaneous cataract extraction with intraocular lens implantation (n = 5). Histopathologically, the invading epithelium mainly consisted of nonkeratinizing squamous epithelium with goblet cells (64.7%). There was a secondary proliferation of corneal endothelium on the cyst's surface in 82.4% of patients. There was no clinical evidence of recurrence of epithelial ingrowth, and no enucleation had to be performed during follow-up. CONCLUSION Block excision with tectonic corneoscleral grafting is the treatment of choice for cystic and/or diffuse sheet-like epithelial ingrowth of the anterior chamber or anterior uvea, retrospectively.

Purpose: To investigate and compare the clinical outcome of primary penetrating keratoplasty in pediatric patients with Peters anomaly and sclerocornea. Methods: Medical records of 20 eyes of 18 patients with Peters anomaly or sclerocornea who underwent primary penetrating keratoplasty when they were 5 years or younger were reviewed. The survival rates and median survival times of corneal grafts were evaluated to determine the surgical outcome. Demographics of patients, the preoperative characteristics of recipient eyes, surgical procedures, causes of graft failure, and postoperative complications were analyzed to identify the factors affecting graft survival. Results: A total of 20 penetrating keratoplasties were performed in 18 patients. Eight patients had Peters anomaly, and 10 patients had sclerocornea. Overall, 50% of corneal grafts survived during the follow-up of 92.7 6 10 months. The graft survival was 65% at 6 months and remained 50% at 12 months, 2 years, and 5 years after surgery. The mean survival time and survival rate were significantly different between patients with Peters anomaly and those with sclerocornea (the survival time, 135.6 6 17.9 vs. 36.4 6 16.1 months, P = 0.014; the survival rate, 87.5% vs. 25.0%, P = 0.02). The presence of opacity or vascularization in the limbus and in the peripheral cornea and the diameter of the recipient cornea were significantly correlated with graft failure. Conclusions: Penetrating keratoplasty in patients who were 5 years or younger had an excellent surgical outcome in patients with Peters anomaly, whereas the graft survival was poor in patients with sclerocornea.

To describe corneal changes associated with chromosome 10 terminal deletion (chromosome 10, monosomy 10qter) syndrome.Report of two cases of bilateral corneal ectasia with literature review.Corneal pathology has not previously been reported in the limited number of case reports on 10qter syndrome. However, Rodrigues et al.(1) have reported sclerocornea in 10q translocation.Ophthalmic manifestations of 10qter syndrome include strabismus, lid, and facial anomalies. We present two cases of corneal ectasia of varying severity. Possible etiologies include the following: secondary to genetic factors, acquired corneal exposure during sleep, or possible intrinsic immunocompromise exacerbating ocular surface infections. Corneal ectasia with specific histological changes is a feature of various genetic disorders (e.g., Down's, Ehler's Danlos, and Marfan's syndromes). It is unknown whether genetics plays a role in the development of corneal changes in 10qter syndrome. Management of inflammation and visual rehabilitation in these patients poses a therapeutic challenge.

Purpose Outcomes of pediatric penetrating keratoplasties (PK) performed for various corneal anomalies in children. Methods Since 2000 56 PKs in children (6 months to 16 years) were performed. In infants group there were: 17 Peters Anomaly cases (24 eyes including 3 bilateral cases, 4 reoperations), 3 cases of sclerocornea. In older children surgeries were performed for 18 leucomas and 11 posttraumatic lesions. Follow up was at least 12 months. VA and graft transparency were analyzed. Results 59,2% of infant’s eyes had transparent corneas, VA ranged from 0.01 to 0.2. 19.2% of transplanted corneas were cloudy with blured vision. Other grafts were failed including one phthisis. In older children success rate with transparent cornea was achieved in 82,7% of cases. Mean VA was 0.3±0.12. Main complications were: immune rejection (11 eyes), stromal vascularisation (5 cases). Conclusion Keratoplasty is an effective procedure to safe vision in children.

Background: A microdeletion in the chromosome 22q11.2 (DiGeorge or velocardiofacial syndrome) is the most common human deletion syndrome. Patients with 22q11.2 deletion may have a wide range of ocular findings but severe ocular involvement is uncommon. Here, we describe a 2-year-old boy who had growth retardation, developmental delay, right renal agenesis, ventricular septal defect and severe bilateral ocular anomalies.The systemic and ocular findings and cranial magnetic resonance imaging study results were reviewed. Fluorescence in situ hybridization analysis was performed on his peripheral blood.The patient presented with the oculodigital sign. On examination, he had severe right microphthalmia with no light perception and his left eye could not fix and follow. The left eye had anterior segment dysgenesis, mild sclerocornea, corneal staphyloma and congenital aphakia. Systemic findings included growth deficiency, microcephaly, micrognathia, ventricular septal defect, atrial septal defect and right renal agenesis. Fluorescence in situ hybridization analysis of this patient was significant for a heterozygous deletion covering DiGeorge critical region 2 and spanning a 250 kb region in the 22q11.2 locus.The 22q11.2 deletion syndrome may be associated with severe bilateral ocular malformations including microphthalmia, sclerocornea, corneal staphyloma, anterior segment dysgenesis and congenital aphakia. Corneal staphyloma might have resulted from the oculodigital phenomenon or increased intraocular pressure.

Purpose: This study describes the authors' surgical technique and the results in 68 consecutive patients with tumors of the iris and ciliary body involving the angle removed by block excision and tectonic corneoscleral grafting between 1980 and 1995. Patients and Methods: There were 41 (60.3%) women and 27 (39.7%) men whose ages ranged from 14 to 85 years (median, 41 years). Follow-up ranged from 0.5 to 15.2 years (median, 6.3 years). Tumors of the iris and ciliary body with chamber angle involvement were removed with a modified block excision consisting of simultaneous en bloc removal of the tumor with adjacent iris and cornea and sclera in full-thickness. The resulting defect of 6 to 20 mm (median, 9.0 mm) diameter is covered with a tectonic corneoscleral graft. Results: Forty-nine tumors (72.1 %) were classified as malignant tumors of the iris and ciliary body. Twenty-one (44.7%) of 47 malignant melanomas showed histologic evidence of scleral invasion of more than one third of scleral thickness. Extrascleral extension of the tumor was present in seven (14.9%)patients with malignant melanomas and in four (21.1 %) patients with benign tumors of the iris and ciliary body. The 10year survival probability of patients with malignant melanomas was 91.4%. The main intraoperative complication was vitreous hemorrhage in 24 (35.3%) patients, and the main postoperative complication was complicated cataract, occurring in 22 (32.3%) patients. Two local tumor recurrences (2.9%) were observed. Four eyes (5.8%) had to be enucleated after block excision. Best-corrected postoperative visual acuity was better than 20/60 in 36 (52.9%) patients. Conclusion: The authors' results indicate that block excision with tectonic comeoscleral grafting may be the treatment of choice for progressive circumscribed tumors of the iris and ciliary body involving the anterior chamber angle up to 150° of its circumference.

X-linked mental retardation (XLMR) is genetically heterogeneous and clinically variable. We describe a new XLMR syndrome of severe mental retardation and multiple congenital anomalies. Two sisters have (with 3 different partners) 3 severely handicapped sons. In 2 cases, oligohydramnios and intrauterine growth retardation were noted. Common anomalies included a square-shaped face, high and broad forehead, frontal bossing, downward slant of palpebral fissures, hypertelorism, epicanthic folds, long philtrum, thin upper lip, and apparently low-set ears. One boy has bilateral microphthalmos and sclerocornea, and his cousin has atrophy of the optic nerve. All 3 patients are blind and have profound statomotor and mental retardation, seizures, and a grossly abnormal electroencephalographic pattern. Additional findings are short stature, delayed bone maturation, hydronephrosis, vesicorenal reflux, cryptorchidism, clinodactyly of the 5th fingers, and transverse palmar creases. The karyotype is normal (46,XY). Segregation analysis showed perfect coinheritance between the clinical phenotype and alleles at several loci in Xp22.3, whereas recombinants were identified with marker loci from Xp22.2-qter. Analysis of multiple informative meioses suggests that the disease locus maps in Xp22.3 distal to DXS16.

Background Confocal microscopy allows an in-vivo visualization of corneal structures in frontal optical sections. By means of this method we show morphological changes in a corneal transplant after sclerocorneoplasty a chaud because of a necortizing keratitis. Case report and method We report on a patient who had to undergo a 15 mm diameter sclerocorneoplasty a chaud because of a necrotizing keratitis of his right functionally last eye in October 1993. Five months after transplantation there was a circular vascularization of the scleral rim and a progressive crystalline deposition in the periphery of the cornea. The main part of the donor cornea remained clear with a vision of 0.6. After one year the patient had developed a mature complicated cataract and got a phacoemulsification with a tunnel in the transplanted cornea and an implantation of a posterior chamber lens. In May 1995 the visual acuity was 0.9. We examined the epithelium, stroma and endothelium of the graft by means of in-vivo confocal slit scanning microscopy. Results All layers of the cornea are demonstrated. There were crystalline needle-like structures in the peripheral stroma and round cystic bodies in the deep stroma. Nerves were visible one year after transplantation. The endothelial cells showed a mild polymorphism and still a density of 2200 cells/mm2. Conclusions Confocal microscopy is a useful non invasive technique for routine examinations after keratoplasty. Microscopical changes in the tissue are also visible in case of absent postoperative complications. With growing knowledge the confocal microscopy will give more insight into processes of wound healing.

The arrangement of the collagen fibrils of the human sclera was analyzed in the region of the limbus corneae, the corneoscleral trabeculum, at the zone of muscle insertion and at defined areas of the internal and external surface of the sclera. Adult eyes with no apparent pathological alterations and the sclera of a patient with staphyloma were examined by scanning electron microscopy. The investigations were performed to describe regularities in the collagen architecture in normal and pathologically altered eyes to understand pathomorphologic and pathophysiologic changes in scleral diseases.

Twin brothers with microphthalmia, facial dermal hypoplasia, sclerocornea, and supraventricular tachycardia, are reported. Their clinical features are compatible with MIDAS syndrome, a known X-linked and hemizygous male lethal condition. Their karyotypes showed an XX sex chromosome modality with a subtle Xp/Yp translocation proven by the presence of SRY gene. The pregnancy was complicated with fetal supraventricular tachycardia, which was treated with digoxin prenatally. Postnatally, both twins required treatment with adenosine, digoxin, and propanolol to remain in normal sinus rhythm. The possible involvement of the heart, only in the form of cardiomyopathy with arrhythmia is emphasized. Both twins had a selective X-inactivation of the derivative chromosome X with Xp/Yp translocation.

A 28-year-old man underwent pterygium excision with a single intraoperative application of mitomycin C (0.02%) for 3 minutes. One week after the surgery, the patient developed a corneoscleral perforation with iris prolapse. To the best of our knowledge, corneoscleral melting in the first postoperative week after a single intraoperative application of mitomycin C has not been reported. Moreover, the perforation occurred despite using a minimum concentration of the drug, risk factors were absent, and the surgery was performed by an experienced surgeon. Although a single case, this report questions the safety of using an intraoperative application of mitomycin C for preventing a recurrence of pterygium. [Ophthalmic Surg Lasers Imaging 2003;34:146-148.]

To immunolocalize corneal keratan sulfate (KS) and its core protein lumican, aggrecan, type I and type III collagens in sclerocornea specimens and compare their expression and distribution to age-matched healthy corneas and scleras. Sclerocornea specimens (n = 3) and age-matched normal corneoscleral rim specimens (n = 3) were studied by light microscopy and histochemically. KS, lumican, aggrecan, type I and type III collagens were immunolocalized in the specimens using indirect immunofluorescence. The fluorescence intensity in each specimen was scored from 0 to 4, with 0 representing no fluorescence and 4 representing intense fluorescence. The sclerocornea specimens showed histologic features typical of sclerocornea. KS and lumican immunolabeling in the corneal stroma in sclerocornea was decreased, whereas aggrecan immunolabeling was increased compared to that seen in normal cornea and normal sclera. KS and lumican staining was more intense in the posterior part of sclerocornea specimens, whereas aggrecan staining was distributed throughout the stroma. The staining intensity and distribution of type I collagen in sclerocornea was similar to that seen in normal cornea. Type III collagen was faint to absent in both normal cornea and sclerocornea but strong labeling was noted in normal sclera. The immunophenotype of sclerocornea is similar to that of normal cornea but with reduced labeling intensity of KS and lumican and increased labeling intensity of aggrecan. This change could potentially contribute to the abnormal fibril assembly in sclerocornea.

An 8-month-old caucasian girl with monosomy 21 and sclerocornea underwent bilateral penetrating keratoplasties. Both light and electron microscopic studies were performed on the corneal buttons. Light microscopy revealed variable and abnormal corneal thickness with the peripheral cornea being thinner than the center, lack of Bowman's layer, irregular stromal lamellae, stromal vascularization, markedly underdeveloped or absent Descemet's membrane, and marked attenuation of the endothelium. Electron microscopy demonstrated basal epithelial cells with a thin epithelial basement membrane residing directly on stromal lamellae without intervening Bowman's layer. Stromal collagen fibrils were irregular in size measuring 38-69 nm in diameter. We believe this to be the first report of corneal transplantation and the second reported case of sclerocornea in a patient with monosomy 21.

Small incision cataract surgery has several advantages over conventional surgery, including faster postoperative visual rehabilitation. We evaluated 100 consecutive cases of no-stitch, small incision surgery with a square sclerocorneal tunnel and a flexible intraocular lens. Permanent self-sealing of the wound seemed to increase intraoperative safety considerably. With the specific incision used, corneal trauma and irrigation fluid outflow were minimal. Refraction and K-readings stabilized within the first postoperative week, which is when most eyes attained best final visual acuity. No early peak or protracted drift of astigmatism occurred. Minimally leaking wounds in three eyes were left unsutured; a transient filtering bleb was observed in two of these eyes after resorption of an intracameral air bubble. Our results support the theoretical concept and justify the use of no-stitch, small incision surgery.

PURPOSE Anterior segment dysgenesis is one of the main causes of congenital corneal opacities. In this study, we investigated the clinical features and visual outcomes of patients with anterior segment dysgenesis in a large number of cases. METHODS The medical records of patients with congenital corneal opacities in relation to anterior segment dysgenesis seen in the National Center for Child Health and Development, Japan, between April 2002 and October 2009, were retrospectively studied. RESULTS Records of 220 eyes of 139 patients were reviewed. Mean follow-up period was 5 years. Clinical diagnoses were Peters anomaly (72.7%), anterior staphyloma (11.4%), Rieger anomaly (7.7%), sclerocornea (6.4%), and others (1.8%). Visual acuity was measured in 61 patients. The best-corrected visual acuity in the better eye of bilaterally involved patients was 20/60 to 20/1000 (low vision according to the International Classification of Diseases, Ninth Revision, Clinical Modification) in 43.2% and less than 20/1000 (legally blind) in 24.3%. Fundus examination was performed in 82 eyes, and disorders were seen in 12 (12 of 82; 14.6%). Systemic abnormalities were present in 35 patients (35 of 139; 25.2%); a family history was present in 5 patients (5 of 139; 3.6%). Of the 160 eyes of 109 patients with Peters anomaly, 51 patients (51 of 109; 46.8%) had bilateral Peters anomaly, 30 (30 of 109; 27.5%) had fellow eyes that were normal, and 28 (28 of 109, 25.7%) showed other abnormal ocular findings in the fellow eye. CONCLUSIONS Anterior segment dysgenesis shows diverse clinical features, various severities of corneal opacities, and visual outcomes. Further understanding of the disease as an abnormality during embryogenesis and neural crest cell differentiations may be required.

Bilateral microphthalmia with blepharophimosis, linear lesions of dermal aplasia involving the face, and microcephaly were present in a newborn girl who died at age 9 months from cardiomyopathy resulting in ventricular fibrillation. Autopsy showed an atrial septum defect, persistent gross trabeculation of the left ventricle, and an arteria lusoria. This case represents a further example of a new entity for which we propose the term MIDAS syndrome. The acronym stands for microphthalmia, dermal aplasia, and sclerocornea. Our patient is the second with this syndrome to have a major congenital heart defect. Cytogenetic studies reported in previous cases indicate that the underlying gene defect can be assigned to Xp22.3. This new X-linked malelethal trait should be distinguished from focal dermal hypoplasia that will be found to map elsewhere on the X-chromosome. © 1993 Wiley-Liss, Inc.

Eleven patients with blue sclera, limbus-to-limbus corneal thinning, hypermobile joints, and consanguineous parents were examined between January 1983 and September 1991. The clinical diagnosis was consistent with the Ehlers-Danlos syndrome type VI phenotype in all patients. A "halo" sign at the limbus was present in all patients. Corneal rupture occurred in seven patients (nine eyes) either spontaneously or following minimal trauma. Acute hydrops occurred in three patients. Bilateral microcornea was present in one patient and two patients had a unilateral increased corneal diameter as a result of secondary glaucoma after trauma. Peripheral sclerocornea was present bilaterally in five patients. Curvature abnormalities included cornea plana, keratoconus, and keratoglobus.