[Congenital optic disc anomalies--own observations]. / Wrodzone zaburzenia tarczy nerwu wzrokowego--obserwacje wlasne.

The aim of this article is to present a clinical picture of congenital optic nerve anomalies, which occur quite frequently in the general population, may cause low vision and visual field defects. These abnormalities can coexist with central nervous system defects or the other ocular abnormalities. Some of them may be misdiagnosed as papilloedema during the episode of intracranial fluid pressure elevation or glaucomatous neuropathy. Diagnosing the congenital nerve optic disc defects coexisting with multiorgans anomalies requires multidisciplinary medical care especially in babies. developmental optic disc anomalies, congenital eye abnormalities, differential diagnosis.

Bilateral optic disk swelling in the 4q34 deletion syndrome.

Terminal deletion of chromosome 4q is a genetic abnormality associated predominantly with cardiac abnormalities, abnormal facial features, and developmental delay. A specific clinical clue to this infrequently diagnosed disorder is hypoplasia of the terminal phalanx of the fifth finger with an abnormal nail, occasionally extending onto the volar surface. Ocular manifestations of the disorder are uncommon, but anterior segment dysgenesis and glaucoma have been described with proximal deletions of chromosome 4 with phenotypes resembling Rieger's anomaly. We present a case of 4q deletion syndrome, presenting with asymptomatic bilateral disk swelling.