Ophthalmologic examination of the infant]

BACKGROUND: The examination of the infant needs patience, special knowledge and skills to get to a reliable judgment of the visual functions of the child. For the practitioner it is important to rely on clinical methods without the apparatus reserved to ophthalmologic institutions. METHODS: Based on the literature and personal experience the clinical examination techniques for infants are presented and the results are discussed with respect to the possible diagnosis. CONCLUSION: Simple clinical tests reveal most symptoms in the infant. Electrophysiological tests and imaging procedures are sometimes necessary.     

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 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.     

Ophthalmologic findings in the Cornelia de Lange Syndrome.

BACKGROUND: Cornelia de Lange Syndrome (CdLS) is a disorder caused in many patients by a mutation in the NIPBL gene with a dominant pattern of inheritance characterized by mental retardation, prenatal and postnatal growth retardation, upper-limb abnormalities, and characteristic facies. Few data exist concerning the ophthalmic findings in this syndrome. METHODS: One hundred twenty individuals with CdLS underwent ophthalmic examination to ascertain the relative frequencies of oculofacial and ophthalmic abnormalities. RESULTS: We confirmed the frequent findings of synophrys (99%), long lashes (99%), hypertrichosis of the brows (96%), ptosis (44%), epiphora (22%), nasolacrimal duct obstruction (16%), blepharitis (25%), and myopia (58%). In addition, we found peripapillary pigment (83%), and microcornea (21%), which have infrequently been mentioned in the literature. CONCLUSION: Patients with CdLS can have multiple eye problems. Many of these problems can be readily treated, including myopia, blepharitis, nasolacrimal duct obstruction, and ptosis. Early examination is recommended for all children known or suspected to have CdLS.