RESUMO
Seven cases of retinal dystrophy associated with bilateral macular colobomata are presented. Two separate entities were found. The first is a congenital onset pigmentary retinopathy similar in electrophysiologic findings and symptoms to typical Leber's congenital amaurosis; the second appears to be a form of pregressive cone-rod dystrophy with pigmentary retinopathy. Review of the pertinant literature and clinical evidence suggest that both conditions are distinct entities inherited in the autosomal recessive manner.
Assuntos
Coloboma/complicações , Macula Lutea/anormalidades , Doenças Retinianas/complicações , Adolescente , Adulto , Coloboma/genética , Coloboma/fisiopatologia , Eletrorretinografia , Feminino , Fundo de Olho , Humanos , Lactente , Masculino , Doenças Retinianas/genética , Doenças Retinianas/fisiopatologia , Escotoma/complicações , Campos VisuaisRESUMO
We retrospectively studied 36 patients with congenital (Leber's amaurosis) and early onset retinitis pigmentosa (RP) to develop a new schematic classification system based on the age at onset of symptoms, severity of visual loss, and associated nonocular abnormalities. Our four groups were designated as complicated and uncomplicated Leber's congenital amaurosis and juvenile and early onset RP. Criteria for patient selection included an extinguished or barely recordable electroretinogram, well-documented age of onset, and comprehensive ocular and medical examinations before the age of 10 years. Among the congenitally blind, the distinguishing features were the degree of hyperopia and the presence or absence of neurologic abnormalities. Among patients with infantile or juvenile onset of retinal degeneration, the distinguishing features were the severity of visual loss and the age at onset of symptoms. The presence of nystagmus and hyperopia and the severity of central visual loss differentiated congenital from early onset RP.
