Purpose:The aim of this study was to report a unique clinical presentation of paraproteinemic keratopathy after a myopic uneventful laser in situ keratomileusis (LASIK) procedure that led to the diagnosis of gammopathy of undetermined significance.Methods:This was an interventional case report. A 55-year-old woman present with bilateral branching opacities limited to the optical zone of myopic LASIK. The patient's medical history was unremarkable.Results:After ruling out a mutation in TGF-β1, a systemic workup was performed, revealing an IgG level of 12.8 mg/dL, lambda-free light chain of 12.8 mg/dL, and M-spike of 0.6 g/dL. Bone marrow aspiration was slightly hypercellular, without evidence of neoplastic infiltration by plasma cells. The patient underwent 3 cycles of systemic chemotherapy, with improvement in best-corrected visual acuity.Conclusions:Paraproteinemic keratopathy is a rare clinical presentation that may lead to a systemic diagnosis of hematologic malignancy. To the best of our knowledge, this is the first reported case of paraproteinemic keratopathy after LASIK.
El síndrome de Aicardi fue descrito en 1965 como una tríada de anormalidades que incluye agenesia parcial o total del cuerpo calloso, lagunas coriorretinianas y espasmos infantiles. Se presenta el caso de una paciente con diagnóstico de síndrome de Aicardi que debutó con manifestaciones neurológicas, por lo que se decidió su abordaje multidisciplinario. Caso clínico: Paciente de sexo femenino, de 1 mes de edad, que llega al departamento de genética con antecedentes de epilepsia (espasmos infantiles), agenesia total de cuerpo calloso y disgenesia vertebral con escoliosis encontradas durante la evaluación neurológica previa. El examen oftalmológico reveló microftalmia en el ojo derecho, microcórnea en el ojo izquierdo presentó y resto del segmento anterior sin alteraciones. En la fundoscopia se observaron lesiones coriorretinianas compatibles con lagunas coriorretinianas, así como coloboma de nervio óptico, por lo que se diagnostica síndrome de Aicardi. Conclusiones: Enfatizamos la importancia del examen oftalmológico completo en todos los pacientes para detectar de manera oportuna cualquier anormalidad, además de realizar siempre un abordaje sistémico que permita un diagnóstico sindromático, e individualizar el plan terapéutico.
Aicardi syndrome was originally described in 1965, as a triad of abnormalities that includes partial or total agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. Case report: A 1-month-old female was evaluated in the Genetics department with a history of epilepsy, total agenesis of the corpus callosum, and vertebral dysgenesis with scoliosis identified during a previous neurological evaluation. An ophthalmological examination revealed microphthalmia of the right eye and microcornea in the left eye; the rest of the anterior segment showed no alterations. Fundoscopy revealed chorioretinal lesions compatible with chorioretinal lacunae that integrated the diagnosis of Aicardi syndrome. Conclusions: We emphasize the importance of a careful ophthalmologic examination in all patients to identify ophthalmological and systemic abnormalities at an early age and the development and implementation of an individualized therapy plan.
Purpose: To describe the ocular clinical characteristics of a group of Mexican patients with lamellar ichthyosis (LI) arising from TGM1 pathogenic variants.
Methods: Ophthalmological exploration, pedigree analysis and genetic screening were performed in patients with an established clinical diagnosis of lamellar ichthyosis from families located in a small community in the Southeast of Mexico.
Results: Nine patients with LI in five families were identified. There were 6 affected females. All patients (9/9) demonstrated eye lid abnormalities with eight patients showing lid margin abnormalities. Madarosis was present in only 3 individuals and corneal scarring was documented in 2. All 9 individuals carried biallelic TGM1 variants, either homozygously or as compound heterozygous.
Conclusion: Ocular anomalies are common in individuals with TGM1-related LI. The occurrence of a variety of private or rare mutations hampers the identification of a genotype-phenotype correlation for ocular anomalies in this disorder.
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