Congenital Corneal Clouding Research Articles

A rare case of sirenomelia

Sirenomelia also called mermaid syndrome is a congenital, rare, lethal, multisystemic human malformation of unknown etiology. The characteristic feature of sirenomelia is the fusion of the lower limbs, resulting in the appearance of a mermaid’s tail, and thus the name “mermaid syndrome.” This condition is also characterized by various severe urogenital abnormalities and the presence of a singular umbilical cord blood vessel, and it is more common in infants of diabetic mothers and in monozygotic twins. The incidence is around 1 in 60,000–70,000 pregnancies. The majority of affected fetuses are stillborn, whereas the rest of the live-born die in the early neonatal period due to complications of the gastrointestinal and urogenital systems. We are reporting a case of sirenomelia in a neonate born to an unregistered multipara mother. The baby had perinatal asphyxia, sirenomelia, dextrocardia, low set ears, lymphatic malformation, bilateral renal agenesis, absent external genitalia and anus, single umbilical artery, and congenital corneal clouding. There was no antenatal ultrasonography done and the baby died at 6 h of life.

Congenital corneal clouding: A case series

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.

Registry of ocular anomalies among patients with genetic disorders in Alexandria and nearby governorates

Background The eye is second only to the brain as an individual organ in its frequency of involvement in genetic disorders. The array of ocular findings associated with developmental disorders, metabolic diseases, and chromosomal anomalies is endless. Aim To determine the prevalence and describe types of ocular malformations among patients with genetic disorders attending the Genetic Clinic of Alexandria University Children’s Hospital from January 2015 to December 2017. Patients and methods In this study, 354 patients were included. Patients’ data were collected from records as follows: the age and sex of the patients, residence, parental consanguinity, family history, pre/perinatal history, and data of general examination and ophthalmic examination. Results Of 354 patients who were enrolled in this study, 83 (23.4%) patients had genetic ocular malformations, 16 cases had corneal clouding, 15 cases of ptosis, 10 cases of strabismus, nine cases of refractive errors, and six cases of microphthalmia. The age variation in the study was between 8 days and 14 years, and 55.4% of cases were below the age of 2 years. Male : female ratio was 1.1 : 1. Overall, 61.4% of cases had positive history of consanguineous marriage, and 9% of cases had a positive prenatal history. Moreover, 4.8% of cases with ocular malformations had chromosomal abnormality, in which 3.6% were numerical (Trisomy 13) and 1.2% were structural (deletion 18q). Genetic diseases associated with ocular malformations could be classified into isolated (nonsyndromic) disorders, which represented 3.6%, and syndromic disorders, which represented the remaining 96.4% of cases. Isolated disorders included primary microcephaly (2.4%) and blepharophimosis, ptosis, and epicanthus disease (1.2%), whereas the syndromic cases included chromosomal disorders (4.8%), metabolic disorders (26.5%), syndromes with primary dermatological abnormalities (7.2%), syndromes with primary skeletal abnormalities (19.2%), syndromes with endocrine/growth retardation (28.6%), syndromes with primary neurologic abnormalities (7.2%), and others (4.2%). Conclusion Overall, 23.4% of patients with genetic syndromes had ocular malformations. The most common anomaly was congenital corneal clouding (19.3%) followed by ptosis (18%), strabismus (12%), refractive errors (10.8%), and microphthalmia (7.2%) in the order of frequency.

A rare case of congenital corneal clouding with anterior staphyloma of the eye

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.

Hornhautdystrophie-(HD-)bedingte Schmerzen und Visusbeeinträchtigung im Kindesalter

Many forms of the 25 corneal dystrophies (CD) manifest already in childhood with bilateral corneal opacities without any visual impairment in most cases. Pain attacks due to recurrent erosion with red eye and epiphora can occur in combination with the first dystrophy-specific corneal opacities, e.g., nest-like lattice lines + corneal erosion in lattice CD. Often we can observe a joint occurrence. The parents accompany their child to consult the ophthalmologist concerning the recurrent and joint pain attacks. The ophthalmologist can also diagnose in such a situation subtle corneal opacities on the painless, contralateral eye, e.g., those of lattice, granular, macular or Reis-Bücklers CD. The correct interpretation of this combination does not lead the ophthalmologist to an inflammatory-, but to a dystrophy-induced interpretation of this entity. In a further group of CD, e.g., in Franceschetti CD, the typical history of this entity is a dominant disorder with recurrent epithelial erosions starting in the first decade, declining in frequency and severity at a later age, and associated with a central, disk-like haze of the subepithelial cornea from middle age. The recurrent erosions in childhood lasted 3-5 days and were followed by complete recovery. Congenital corneal clouding in the form of a milky ground-glass appearance can be observed in the rare endothelial CD, such as in congenital hereditary endothelial dystrophy 1 and 2 (CHED 1 and 2), X-linked endothelial CD (XECD), and in posterior polymorphous CD (PPCD). The differential diagnosis for congenital glaucoma is of essential importance. The parents of babies with congenital corneal opacification should be examined at the slit-lamp to in- or exclude the appearance of mooncrater-like endothelial changes.

Bifid tongue, corneal clouding, and Dandy-Walker malformation in a male infant with otopalatodigital syndrome type 2

We report on a male infant with otopalatodigital syndrome type 2 (OPD2) associated with a novel c.514C>G FLNA mutation and unusual clinical features including bifid tongue and congenital corneal clouding. Bifid tongue and congenital corneal clouding have each only been described once previously in a patient with OPD2, and this is the first description of Dandy-Walker malformation (DWM) in OPD2. The presence of these clinical findings in a mutation-confirmed case of OPD2 supports the notion that corneal clouding, bifid tongue, and DWM are part of the constellation of abnormalities caused by mutations in FLNA.

Penetrating Keratoplasty in a Newborn: Case Report and Analysis of Current Surgical Trends in Italy

The aims of this study were to describe bilateral penetrating keratoplasty (PK) in a newborn and to analyze the data of PKs performed in Italy during the 5-year period 1999-2003 in children under 4 years of age. A male newborn had PK at age 3 months and 5 months for near-blindness secondary to severe congenital corneal clouding in both eyes. The infant''s explanted corneas were subjected to histochemical and ultrastructural analyses. Data regarding the number of PKs performed in Italy on 0-4-year-olds were obtained from the Web site of the Italian Ministry of Health. The postoperative courses were uncomplicated, and 42 months of follow-up data show bilateral graft transparency and substantial improvement in visual acuity despite high-grade myopia and nystagmus. At the ultrastructural level, the main alterations involved the endothelial cells and Descemet membrane. A total of 45 PKs were performed in Italy on patients 0-4 years old from 1999 through 2003; only nine involved babies under 1 year of age. In babies with congenital corneal opacities, early PK can reduce severe amblyopia. However, the risk of intra- and postoperative complications in PK is high. Based on the 42-month follow-up, the anatomic and functional results achieved in the current patient are satisfactory despite the presence of nystagmus and postoperative high-grade myopia. This study shows that PKs are rarely performed, in Italy, in children aged 0-4 years, and very few are done during the first year of life.

Congenital Idiopathic Corneal Endotheliopathy

Two unrelated boys had a history of bilateral corneal clouding at birth following uncomplicated full-term gestations and spontaneous vaginal deliveries (without forceps). Clinical examinations disclosed bilateral corneal edema, no inflammation, and normal intraocular pressures. There was no history of similarly affected family members. The patients underwent penetrating keratoplasty at ages 4 months (patient 1) and 12 years (patient 2). Light and electron microscopic studies of the corneal buttons from both patients revealed areas of degeneration of the endothelium and separation of rounded endothelial cells. The morphologic features were strikingly similar to those in two acquired forms of corneal disorders--autoimmune endotheliopathy and "acute endotheliitis." Immunocytologic and in situ hybridization studies for herpes simplex virus were not consistent with either productive or latent corneal infection. Ultrastructural changes in Descemet's membrane reflect delayed or abnormal development of the postnatal nonbanded layer in patients 1 and 2, respectively. These suggest an intrauterine insult that resulted in endothelial dysfunction. The histologic and ultrastructural features of these two congenital cases are not typical of those seen in any of the recognized causes of congenital corneal clouding. We propose that these cases represent a unique congenital corneal endotheliopathy of undetermined origin.

Die perforierende Keratoplastik - Indikationen unter besonderer Berücksichtigung der Kunstlinsenkeratopathie

During the period from 1980 until the beginning of 1986, 1,219 corneal buttons removed in the course of penetrating keratoplasty were histologically examined. In 16.5% (201 cases) a re-keratoplasty was necessary. Indications for a primary corneal transplant (n = 1,018) were keratitis-induced corneal changes (35.0%), dystrophies (30.5%), surgical traumas (17.2%), nonsurgical traumas (11.4%), congenital corneal clouding (3.1%) and degenerations (2.8%). Over the six-and-a-half-year period the incidence of pseudophakic bullous keratopathy was 6.9%, with an increase from 1.6% in 1980 to 12.4% in 1986. Besides an unspecific endothelial cell atrophy, fibroblast-like cell structures, possible macrophages, were found in some specimens by histologic examination on corneal buttons as well as on explanted intraocular lenses.

Ring Stromal Opacity in Lens-Corneal Adhesion

Severe congenital corneal clouding may be associated with abnormal anterior segment development (dysgenesis). Often, congenital corneal opacities preclude visualization of intraocular anatomy. In this report, five eyes of four patients with congenital corneal clouding and lens-corneal adhesion (LCA) are described. All had a ring- or doughnut-shaped haze within the stroma surrounding a central clear corneal zone delineating the adhesion. Recognition of LCA is pivotal in planning surgical therapy for eyes with congenital corneal clouding. As a clue to recognition of this anomaly, the ring-shaped stromal opacity may aid in diagnosis of this phenomenon and in avoidance of surgical complications.

Treatment of Corneal Opacification in Mucolipidosis iv with Conjunctival Transplantation

Mucolipidosis IV is a rare, inherited metabolic storage disease producing progressive psychomotor retardation and congenital corneal clouding. Histopathologic studies have shown that the corneal epithelium is strikingly involved with intracytoplasmic vacuolated storage material with relative noninvolvement of the corneal stroma and endothelium. Additionally, it has been noted that epithelial removal results in corneal clarity. We treated a 28-month-old patient with mucolipidosis IV with conjunctival transplantation with donor conjunctiva from an unaffected sibling. Improved corneal clarity resulted and has persisted with a follow-up of one year.

Corneal Clouding with Increased Acid Mucopolysaccharide Accumulation in Bowman's Membrane

Two infants had bilateral congenital corneal clouding and abnormal acid mucopolysaccharide accumulation in a thickened Bowman's membrane. This unusual entity was not associated with acid mucopolysaccharide deposits in the skin and visceral tissues or with increased levels of acid mucopolysaccharide in the urine. The similarity and differences have been compared to the systemic mucopolysaccharidosis and macular corneal dystrophy.

Congenital corneal clouding with abnormal systemic storage bodies: A new variant of mucolipidosis

Clinical, pathologic, and biochemical findings are described in a male infant presenting with bilateral corneal opacities. There were no skeletal or neurologic abnormalities up to the age of five months, but afterward signs of mild motor retardation could be detected. Bone marrow aspirates revealed numerous vacuolated lipid-laden histiocyte-like cells that were only weakly PAS-positive. Electron microscopic examination of live and conjunctiva showed both membranous lamellar cytoplasmic bodies and numerous single membrane-limited vacuoles filled with fibrillogranular material. Histochemical examinations corroborated with ultrastructural findings and suggested excess storage of both lipids and complex carbohydrates (possibly mucopolysaccharides). In spite of the striking abnormalities in cell morphology, the activities of acid hydrolases in skin fibroblasts and leukocytes were within normal limits. These findings are discussed in terms of a new mucolipidosis variant.