Congenital anomalies of the retina.
Review of 50 histopathologic cases and a number of clinical cases of congenital retinal anomalies has permitted classification under the following headings: 1) Coloboma-orbital cyst--"anophthalmos" group due to aberrant closure of the embryonic fissure; 2) Retinal fold-central stalk-detachment group comprising a series that varies from simple retinal folds to total retinal detachment and anomalous stalk formation. Cases of the 13-15 trisomy syndrome constitute a special subgroup in this rubric; 3) Retrolental fibroplasia, due to hyperoxia of premature infants, is manifest by "dragged" disks and gliovascular proliferation with occasional detachment; 4) Persistent hyaloid system is occasionally associated with mild anomalies of the retina; 5) Massive gliosis of the retina is usually a hamartomatous manifestation; 6) Congenital absence of ganglion cells occurs with cerebral maldevelopment and 7) Congenital absence of the photoreceptors is the congenital form of retinitis pigmentosa.
D000015:Abnormalities, Multiple / Q000145:classification; D000853:Anophthalmos / Q000145:classification; D001766:Blindness / Q000151:congenital; D002901:Chromosomes, Human, 13-15; D003103:Coloboma / Q000145:classification / Q000196:embryology / Q000473:pathology; D000013:Congenital Abnormalities / Q000145:classification / Q000473:pathology; D003560:Cysts / Q000145:classification; D005911:Gliosis / Q000145:classification; D006311:Hearing Disorders / Q000145:classification; D006801:Humans; D007231:Infant, Newborn; D008850:Microphthalmos / Q000473:pathology; D009896:Optic Atrophy / Q000145:classification; D009900:Optic Nerve / Q000473:pathology; D010786:Photoreceptor Cells / Q000002:abnormalities; D012160:Retina / Q000002:abnormalities* / Q000473:pathology; D012163:Retinal Detachment / Q000151:congenital; D012164:Retinal Diseases / Q000145:classification; D012178:Retinopathy of Prematurity / Q000145:classification; D013577:Syndrome; D014314:Trisomy / Q000145:classification; D014822:Vitreous Body / Q000098:blood supply