RESUMEN
INTRODUCTION: Alagille syndrome (AGS) is a genetic disease with multisystemic affection, including ocular manifestations. Recently, a high frequency of posterior segment findings, including macular changes, has been reported. This publication aims to report an unusual finding of macular atrophy and a focal choroidal excavation in a patient with JAG1 related AGS. METHODS: Case report. RESULTS: This publication describes an atypical presentation of focal choroidal excavation (FCE) and unilateral macular atrophy in a 7-year-old male with Alagille syndrome (AGS). Genetic analysis revealed a pathogenic variant in the JAG1 gene. Ophthalmological examination and imaging findings demonstrated characteristic ocular manifestations of AGS, including posterior embryotoxon, chorioretinal atrophy, and thinning of the choroid. CONCLUSION: The presence of FCE in AGS is uncommon, and the underlying mechanisms remain unclear. Further exploration of similar cases is necessary to better understand the evolution and visual prognosis in patients with AGS and FCE.
This case report highlights the presence of focal choroidal excavation and unilateral macular atrophy in a patient with Alagille syndrome. The genetic analysis identified a pathogenic variant in the JAG1 gene.
Asunto(s)
Síndrome de Alagille , Proteína Jagged-1 , Humanos , Síndrome de Alagille/genética , Síndrome de Alagille/complicaciones , Síndrome de Alagille/diagnóstico , Síndrome de Alagille/patología , Proteína Jagged-1/genética , Masculino , Niño , Tomografía de Coherencia Óptica , Enfermedades de la Coroides/genética , Enfermedades de la Coroides/diagnóstico , Angiografía con Fluoresceína , Agudeza Visual/fisiología , Atrofia , Mácula Lútea/patología , Mácula Lútea/anomalías , Coroides/patología , Coroides/anomalíasRESUMEN
ABSTRACT A 39-year-old policeman complained of decreased bilateral central vision over the last two years. On examination, visual acuity was 20/40 and 20/400 in the right (OD) and left eye (OS), respectively, and fundoscopy revealed a bilateral hypopigmented macular lesion. Fluorescein and indocyanine green angiography demonstrated leakage and hyperintense spots, respectively, within the macular areas. At baseline, optical coherence tomography showed subretinal fluid in the OD and a conforming focal choroidal excavation in the OS. Focal choroidal excavation converted from conforming to nonconforming type at 4-month follow-up and then reversed to conforming type at 12-month follow-up, and was associated with incomplete retinal pigment epithelium and outer retina atrophy over the area of excavation. Pachyvessels were also evidenced in the choroid, without neovascularization. We report for the first time a case of focal choroidal excavation that progressed from conforming to nonconforming type and then reverted to its primary configuration (conforming type) in a patient with concurrent bilateral central serous chorioretinopathy.
RESUMO Um policial de 39 anos se queixava de diminuição bilateral da visão central nos últimos 2 anos. A acuidade visual era 20/40 e 20/400 no olho direito (OD) e esquerdo (OE) e a fundoscopia revelou lesão macular hipopigmentada bilateral. A angiografia fluoresceínica e com indocianina verde revelaram, respectivamente, vazamento do corante e áreas hiperintensas nas regiões maculares. A tomografia de coerência óptica evi denciou fluido sub-retiniano no OD e escavação focal de coroide do tipo conformacional no OE. Após 4 meses, a escavação focal de coroide mudou de conformacional para não conformacional e, aos 12 meses, reverteu para conformacional associado a atrofia incompleta do epitélio pigmentar da retina e da retina externa na região da escavação. Também foi evidenciado paquicoroide, sem neovascularização. Relatamos pela primeira vez uma escavação focal de coroide que evoluiu de conformacional para não conformacional e, em seguida, retornou à configuração primária (conformacional) em um paciente com coriorretinopatia serosa central bilateral.