Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.
Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).
Coats' disease in a patient with Cornelia de Lange syndrome.
Folk JC, Genovese FN, Biglan AW. Am J Ophthalmol. 1981;91(5):607-10.
A 16-month-old boy had the mental and physical retardation, low-pitched cry, phocomelia with syndactyly, hirsutism, low-set ears, bushy eyebrows, elongated eyelashes, blepharoptosis, and strabismus characteristic of Cornelia de Lange syndrome along with ophthalmoscopic findings characteristic of Coats' disease.
