Ophthalmologic findings in the Cornelia de Lange syndrome

Background: Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by multisystem abnormalities, including distinct ophthalmologic findings. In recent years, advances in molecular genetics have begun to provide new insight into the characterization of these clinical features and the genetic basis of the syndrome. Materials and methods: We included 37 articles that were identified through an electronic search in PubMed and through the reference lists of previously conducted reviews. Studies of 30 or more patients were used to report frequencies of common and less common findings. Genotype–phenotype studies were used to provide additional information when available. Results: Ocular anomalies are present in most patients with CdLS. Common findings include long eyelashes, synophrys, hirsutism of the eyebrows, peripapillary pigment ring, and myopia. Less common findings include hyperopia, ptosis, blepharitis, short palpebral fissure length, down-slanting palpebral fissures, mild microcornea, strabismus, nystagmus, and optic nerve abnormalities. Conclusions: This review provides a comprehensive summary of the ophthalmologic findings in CdLS. Mutations in certain genes may be associated with specific ocular abnormalities, although future genotype studies are needed to further characterize these relationships.     

Systemic and ophthalmological findings in Cornelia de Lange syndrome

Cornelia de Lange Syndrome (CdLS, de Lange syndrome, Brachmann-de Lange syndrome), is a relatively rare genetic disorder, characterized by set of clinical abnormalities concerning different organs and systems. Phenotypic diagnosis is based on a specific dysmorphic features seen after the birth. We described a genetic basis, hereditary patterns, characteristic dysmorphic features and the most common clinical findings of patients Cornelia de Lange Syndrome concerning eye and vision, hearing, cardiovascular, respiratory, gastrointestinal, genitourinary, skeletal and psychomotor development.     

A Korean case of Cornelia de Lange syndrome

PURPOSE: Cornelia de Lange syndrome is a rare disease showing characteristic facial appearance, developmental delay, growth retardation, low birth weight, skeletal formation anomaly, hirsutism and various ophthalmologic problems. METHODS: We experienced a case of an 18-year-old female with Cornelia de Lange syndrome showing superficial keratitis with entropion, ptosis, high myopia, lacrimal cutaneous fistula and characteristic facial appearance. She was born with low birth weight, operated for cleft palate and diagnosed with ventricular septal defect. In addition, she showed psychological lag and developmental impairment. RESULTS: We performed entropion correction surgery, administered medical therapy for superficial keratitis and prescribed glasses for her myopia. CONCLUSIONS: This is the first case report on the successful correction of entropion with Cornelia de Lange syndrome in Korea.     

Coats' Disease,Megalopapilla and Cornelia De Lange Syndrome

Cornelia de Lange syndrome (CdLS), a congenital disorder characterized by growth and mental retardation, hirsutism, and skeletal and cardiac anomalies, has been associated with a number of ophthalmic abnormalities including synophrys, long eyelashes, myopia, nasolacrimal duct obstruction, and ptosis. Only one case of Coats' disease has been described in the setting of this syndrome.¹ We describe a second case of Coats' disease in a five-year-old boy with this condition.     

Ophthalmologic findings in malaria.

During the Vietnamese conflict, malaria in epidemic proportions constituted a serious health hazard to our forces. Although rarely encountered worldwide, Falciparum malaria proved to be an extremely lethal and dangerous complicating factor. Ophthalmologic complications of malaria are discussed and particular attention is placed on Falciparum malaria with the report of a case in detail and the presentation of unusual fundus findings.     

Ophthalmologic Abnormalities in the Hypereosinophilic Syndrome

Twelve patients with hypereosinophilic syndrome were studied to determine the frequency and type of eye involvement in this systemic disease. Four patients (33%) had visual symptoms, including blurred vision in one or both eyes, and one patient had an episode of complete blindness following cardiac surgery. Five patients (42%) had eye involvement by direct examination, and ten (83%) in fluorescent retinal angiograms. The principal defects noted were occlusions of major retinal vessels, choroidal infarct, and patchy or delayed choroidal filling. As these defects all occurred in patients with other severe systemic complications of the hypereosinophilic syndrome, including cardiologic disease, it is suggested that these lesions were the result of thromboembolic disease and that these patients should receive longterm anticoagulation. It was concluded that eye involvement is a frequent and important feature of the hypereosinophilic syndrome.     

Ophthalmologic findings in children with congenital cytomegalovirus infection.

BACKGROUND: Cytomegalovirus (CMV) infection is the most common congenital viral infection in the United States, affecting 0.5% to 2% of live births. Approximately 90% of infected infants are asymptomatic at birth. We undertook this study to determine the incidence and etiology of visual impairment and other ophthalmologic abnormalities in children with congenital CMV infection. METHODS: We prospectively evaluated 42 symptomatic and 83 asymptomatic children with congenital CMV infection, along with 21 control patients. One or more comprehensive ophthalmologic examinations were performed on each patient. The frequency and etiology of visual impairment and other ophthalmologic problems were tabulated for each patient. RESULTS: Nine of 42 (22%) patients in the symptomatic group had moderate to severe visual impairment in 16 eyes. Visual impairment was primarily due to optic atrophy in 6 of 16 (37%) eyes, macular scars in 2 of 16 (13%) eyes, and cortical visual impairment in 8 of 16 (50%) eyes. In comparison, none of 83 asymptomatic patients had severe visual impairment (P <.001). One asymptomatic patient had mild unilateral visual impairment caused by a macular scar. Strabismus developed in 12 of 42 (29%) symptomatic patients compared with 1 of 83 (1.2%) asymptomatic patients (P <.001). CONCLUSIONS: Visual impairment and strabismus are common in patients with symptomatic congenital CMV infection and rare in patients with asymptomatic congenital CMV infection. Visual impairment may be caused by cortical, optic nerve, and/or retinal abnormalities. Infants with symptomatic congenital CMV infection should undergo careful ophthalmologic screening and follow-up examinations.     

Ophthalmologic findings in Cohen syndrome. A long-term follow-up

OBJECTIVE: To determine the nature and course of ophthalmologic abnormalities and their clinical significance in Cohen syndrome. STUDY DESIGN: Observational case series. PARTICIPANTS: Twenty-two Cohen syndrome patients aged 2 to 57 years were examined, and a retrospective review of ophthalmologic records was carried out for 14 of them. All but one were part of the Finnish study of refined mapping of the Cohen syndrome gene by linkage disequilibrium in chromosome 8. MAIN OUTCOME MEASURES: Visual acuity (VA), cycloplegic refraction, biomicroscopy, lens opacitometry, ophthalmoscopy, and fundus photography. RESULTS: With the exception of the two youngest patients, all had symptoms such as nyctalopia, impaired vision, and visual field loss. Progressive, often high-grade myopia, astigmatism, and retinochoroidal dystrophy resembling retinitis pigmentosa occurred in all, except for the youngest patients. The earliest fundus changes were pale disc and pale fundus with or without pigment granularity, followed by narrowed vessels, pigment clumps, and bone spiculelike pigment accumulations by 10 to 20 years of age. Pigment deposits increased and approached the posterior pole by 35 to 40 years of age. Patients more than 45 years of age had severe retinochoroidal atrophy. A bull's-eye macula was seen in most patients. Teenagers had peripheral lens opacities, and young adults had early nuclear sclerosis confirmed by lens opacitometry. Older patients also had posterior subcapsular cataracts, iris atrophy, and iridophacodonesis. Vision started to deteriorate at the age of 6 to 10 years, but remained relatively good (VA 0.5-0.1) in most patients until 30 and, in one case, 46 years of age. Older patients were severely visually handicapped (VA hand motion to light perception), but none were completely blind. CONCLUSIONS: Progressive myopia and retinochoroidal dystrophy are essential features in Cohen syndrome and, together with early lens opacities, lead to deterioration of vision. Cohen syndrome patients need careful ophthalmologic follow-up at all ages. Nyctalopia and restricted visual fields should be considered when planning the patient's daily activities.     

Ophthalmologic findings in 11 q-deletion syndrome

A 5-year-old boy with deletion of the long arm of chromosome 11 presented with trigonocephaly, bilateral ptosis, epicanthus, antimongoloid lid axes, and bilateral iris coloboma. In order to avoid complication by a torticollis a Guyton-Friedenwald fadenoperation was performed. In 1981 Grosse et al. listed among the pediatric symptoms retarded development, ventricular septum defect, mitral stenosis, and skeletal and urogenital anomalies.     

Ophthalmologic and electro-oculographic findings in Gardner's syndrome

We examined six patients with Gardner's syndrome, eight first-degree relatives, and 31 age- and sex-matched controls to document the presence, distribution, and morphologic features of congenital hypertrophy of the retinal pigment epithelium. Patients with Gardner's syndrome had multiple, bilateral lesions, with 288 of 346 foci (83%) located posterior to the equator. Linear-shaped congenital hypertrophy of the retinal pigment epithelium, a distinctive finding in these patients, accounted for 44 of 140 large lesions (31%). Despite multifocal fundus involvement, results of electro-oculography were normal in all eyes tested.