Pseudoexfoliation syndrome in a 27-year-old patient: a case report / Síndrome de pseudoexfoliação em paciente de 27 anos: relato de caso

ABSTRACT Pseudoexfoliation syndrome is more frequent in people aged >50 yeears, and its prevalence increases with age. Few reports have described cases in younger patients, all with a history of ocular surgery, especially iris resection. Herein, we describe the case of a 27-year old man with bilateral advanced glaucoma and pseudoexfoliation material in OS. He had undergone cataract surgeries OU and a penetrating keratoplasty OD during childhood. Currently, he presented with an intraocular pressure of 40 mmHg OU. The OS showed a white flaky material in the pupillary rim and anterior capsule and a Sampaolesi line as a gonioscopic finding. Trabeculectomy was performed OU, and intraocular pressure control was achieved. Unlike other previously reported cases, this patient did not present any apparent iris manipulation in the affected eye. However, he did undergo an iridectomy in the contralateral eye. This is also the first case to be accompanied by bilateral glaucoma at the time of detection of the pseudoexfoliation material.(AU)

RESUMO A síndrome de pseudoesfoliação é mais frequente em pessoas com mais de 50 anos e sua prevalência aumenta com a idade. Poucos relatos descrevem casos em pacientes mais jovens, todos com história de cirurgia ocular, especialmente ressecção da íris. Descrevemos o caso de um homem de 27 anos com glaucoma bilateral avançado e material de pseudoesfoliação no OE. O paciente foi submetido a cirurgias de catarata em AO e a uma ceratoplastia penetrante no OD durante a infância. Atualmente, ele apresentou PIOs de 40 mmHg em AO. O OE apresentou material escamoso branco na borda pupilar e cápsula anterior, e linha Sampaolesi como achado gonioscópico. A trabeculectomia foi realizada em AO e obteve-se o controle da pressão intraocular. Diferentemente de outros casos relatados, o paciente não apresentou qualquer manipulação aparente da íris no olho afetado. No entanto, ele foi submetido a uma iridectomia no olho contralateral. Além disso, este é o primeiro caso a ser acompanhado de glaucoma bilateral no momento da detecção do material de pseudoesfoliação.(AU)

Pseudoexfoliation syndrome in a 27-year-old patient: a case report.

Pseudoexfoliation syndrome is more frequent in people aged >50 yeears, and its prevalence increases with age. Few reports have described cases in younger patients, all with a history of ocular surgery, especially iris resection. Herein, we describe the case of a 27-year old man with bilateral advanced glaucoma and pseudoexfoliation material in OS. He had undergone cataract surgeries OU and a penetrating keratoplasty OD during childhood. Currently, he presented with an intraocular pressure of 40 mmHg OU. The OS showed a white flaky material in the pupillary rim and anterior capsule and a Sampaolesi line as a gonioscopic finding. Trabeculectomy was performed OU, and intraocular pressure control was achieved. Unlike other previously reported cases, this patient did not present any apparent iris manipulation in the affected eye. However, he did undergo an iridectomy in the contralateral eye. This is also the first case to be accompanied by bilateral glaucoma at the time of detection of the pseudoexfoliation material.

During glaucoma, alpha2-macroglobulin accumulates in aqueous humor and binds to nerve growth factor, neutralizing neuroprotection.

PURPOSE: Glaucoma is an optic neuropathy caused by the chronic and progressive death of retinal ganglion cells (RGCs), resulting in irreversible blindness. Ocular hypertension is a major risk factor, but RGC death often continues after ocular hypertension is normalized, and can take place with normal tension. Continuous RGC death was related in rodents and humans to the local upregulation of neurotoxic proteins, such as TNF-α. In rat models of glaucoma, ocular hypertension also upregulates the expression of α2-macroglobulin, which is neurotoxic. α2-macroglobulin upregulation in the retina is long-lived, even after high IOP is reduced with medication. α2-macroglobulin is examined as a possible biomarker in human glaucoma, and a possible neurotoxic mechanism of action is sought. METHODS: Quantitative Western blotting of α2-macroglobulin in samples obtained from aqueous humor (human and rat) and retina (rat) was conducted. Ex vivo neuronal survival assays and nerve growth factor-α2-macroglobulin binding studies using surface plasmon resonance were used. RESULTS: Increased soluble α2-macroglobulin protein is also present in the aqueous humor in a rat glaucoma model, as well as in the aqueous humor of human glaucoma patients but not in cataract patients. One mechanism by which α2-macroglobulin is neurotoxic is by inhibiting the neuroprotective activity of nerve growth factor via TrkA receptors. CONCLUSIONS: This work further documents a potential novel mechanism of RGC death and a potential biomarker or therapeutic target for glaucoma.