Assuntos
Anisocoria/diagnóstico , Blefaroptose/diagnóstico , Síndrome de Horner/diagnóstico , Imageamento por Ressonância Magnética/métodos , p-Hidroxianfetamina/administração & dosagem , Diagnóstico Diferencial , Humanos , Masculino , Pessoa de Meia-Idade , Midriáticos/administração & dosagem , Avaliação de Sintomas/métodosRESUMO
BACKGROUND: Posterior microphthalmos is a rare autosomal recessive condition with normal anterior segment and small posterior segment resulting in axial hyperopia and retinal folding. HISTORY AND SIGNS: The proband from a consanguineous Turkish family was clinically investigated at 5 months of age and followed for the next 8 years. At five months of age, refraction revealed a severe hyperopia of + 10 diopters in both eyes (OU) with a mean axial length of 16.5 mm. Fundus examination showed a dystrophic maculo-papillar bundle. Multiple whitish deep intraretinal linear lesions sparing the macula were present in the mid-periphery with no preferential orientation. THERAPY AND OUTCOME: By 8 years of age, visual acuity was 20/25 in the right eye (OD) and 20/30 in the left eye (OS) with S + 14 OU. The whitish linear lesions had disappeared and were replaced by retinal pigment epithelium alterations. Optical coherence tomography (OCT) revealed a thickened retina with normal appearance at the site of the linear lesions. CONCLUSIONS: This is the first report of long-term follow-up and OCT findings in this rare ocular developmental abnormality.