RESUMO
INTRODUCTION: Genetic mutations or inflammatory, degenerative, or neoplastic conditions can trigger amyloidosis. Hereditary gelsolin amyloidosis is a genetic disorder primarily marked by amyloid fibrils composed of misfolded gelsolin fragments. CASE REPORT: We present three sisters with AGel amyloidosis, illustrating its clinical diversity. Patient 1, a 51-year-old, had bilateral ptosis, ocular discomfort, and dry eye syndrome due to cranial nerve involvement. Patient 2, a 53-year-old, experienced progressive bilateral visual impairment. Patient 3, a 50-year-old, exhibited right eye ectropion. Genetic analysis, with the identical mutation, heterozygous c.640G > A (p.Asp214Asn) mutation, confirmed AGel amyloidosis diagnoses, with common findings including lattice corneal amyloidosis, reduced corneal sensitivity, and recurrent corneal erosions. Neurological manifestations included ataxia and peripheral neuropathy, with skin abnormalities observed in patient 1. Ocular involvement severity and distribution varied among patients. DISCUSSION: Common ocular and neurological manifestations validated AGel amyloidosis diagnoses, reinforcing its hereditary basis. Neurological symptoms highlighted the disorder's impact on various organ systems, while skin abnormalities contributed to ocular discomfort. Variable ocular involvement emphasized the disorder's heterogeneity. These patients emphasize hereditary gelsolin amyloidosis's clinical diversity and suggest potential environmental influences on disease expression. Genetic confirmation and confocal microscopy findings reaffirm the genetic basis while raising questions about assessing systemic disease severity, necessitating further investigation in larger cohorts. Ophthalmologists' specialized care is crucial for managing ocular symptoms, given the absence of a universal cure.
Assuntos
Amiloidose Familiar , Gelsolina , Microscopia Confocal , Humanos , Feminino , Pessoa de Meia-Idade , Gelsolina/genética , Amiloidose Familiar/genética , Amiloidose Familiar/diagnóstico , Linhagem , Brasil , Mutação , Síndromes do Olho Seco/diagnóstico , Síndromes do Olho Seco/genéticaRESUMO
ABSTRACT The objective of this case report was to share the successful management of severe endophthalmitis, aiming at ocular integrity and visual acuity. A 73-year-old man presented with visual acuity of 20/30 in the right eye and 20/200 in the left eye. On the 21st day postoperatively after phacoemulsification in the left eye, he developed symptoms of endophthalmitis, including ocular discomfort, blurred vision, and whitish discharge. Despite negative cultures, his condition worsened, resulting in corneal perforation on the 31st day. Conjunctival flap and penetrating keratoplasty were performed. Currently, the patient maintains a visual acuity of 20/40 in the left eye, with a healthy graft and no signs of failure. Despite the complications, careful follow-up and timely interventions successfully preserved his vision. The use of conjunctival flap during the inflammatory phase was crucial to maintaining ocular integrity. This underscores the importance of different approaches in complex ocular complications, including alternative strategies for ocular protection during active inflammation.
RESUMO O objetivo deste relato de caso foi compartilhar o manejo bem-sucedido de uma grave endoftalmite, visando à integridade ocular e à acuidade visual. Um homem de 73 anos apresentou acuidade visual de 20/30 no olho direito e 20/200 no olho esquerdo. No 21° dia pós-operatório de facoemulsificação em olho esquerdo, ele desenvolveu sintomas de endoftalmite, incluindo desconforto ocular, visão embaçada e secreção esbranquiçada. Apesar de culturas negativas, sua condição piorou, resultando em perfuração corneal no 31° dia. A cobertura conjuntival e a ceratoplastia penetrante foram realizadas. Atualmente, o paciente mantém acuidade visual de 20/40 no olho esquerdo, com enxerto saudável e sem sinais de falha. Apesar das complicações, o acompanhamento cuidadoso e as intervenções oportunas preservaram a visão com sucesso. O uso de cobertura conjuntival durante a fase inflamatória foi crucial para manter a integridade ocular. Isso destaca a importância de diferentes abordagens em complicações oculares complexas, incluindo estratégias alternativas para proteção ocular durante a inflamação ativa.