RESUMO
BACKGROUND: Peters plus syndrome (PPS) is a combination of congenital Peters anomaly and systemic abnormalities. It is inherited most commonly in an autosomal recessive pattern with homozygous B3GLCT mutations. Ocular findings consist predominantly anterior segment abnormalities without posterior segment involvement. CASE PRESENTATION: In this presentation, we report a case of PPS with homozygous pathogenic variant in B3GLCT who presented with classic anterior segment findings, systemic abnormalities, as well as atypical bilateral chorioretinal atrophy. The chorioretinal findings were characterized with spectral-domain optical coherence tomography. CONCLUSIONS: Our report expands the phenotypic descriptions of PPS by characterizing posterior segment findings.
Assuntos
Doenças da Coroide/genética , Fenda Labial/genética , Córnea/anormalidades , Galactosiltransferases/genética , Glucosiltransferases/genética , Transtornos do Crescimento/genética , Deformidades Congênitas dos Membros/genética , Mutação/genética , Doenças Retinianas/genética , Segmento Anterior do Olho/anormalidades , Doenças da Coroide/diagnóstico , Fenda Labial/diagnóstico , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/genética , Angiofluoresceinografia , Transtornos do Crescimento/diagnóstico , Humanos , Lactente , Deformidades Congênitas dos Membros/diagnóstico , Masculino , Doenças Retinianas/diagnóstico , Tomografia de Coerência ÓpticaRESUMO
An 18-year-old man with primary congenital glaucoma and buphthalmos in both eyes presented with unilateral, sudden-onset, painless vision loss. He had previously undergone multiple sectoral ab externo rigid-probe trabeculotomy in both eyes and subsequently Baervelt glaucoma implantion in both eyes, with adequate intraocular pressure control. Examination revealed subfoveal choroidal neovascular membrane (CNVM) and associated hemorrhages in the right eye. He was treated with 3 consecutive, monthly, intravitreal injections of bevacizumab and recovered baseline vision.
