Transthyretin-Related Familial Amyloid Polyneuropathy (Ttr-Fap): Analysis Of Ocular Involvement And A New Surgical Approach In An Endemic Population Of 163 Patients.
Published 2024 - 42nd Congress of the ESCRS
Reference: PP09.09 | Type: Free paper | DOI: 10.82333/wmmq-bc48
Authors: Noceiba Ben Hassen Jemni* 1 , Laura Flores Villarta 1 , María Artigues Martinez 1 , José Luis Olea Vallejo 1 , Francisco José Vega Mañés 1 , Elena Rigo Oliver 1 , Emeterio Orduña Domingo 2 , Jaume Vila Castro 1 , Inés Asunción Losada López 3 , María Eugenia Cisneros Barroso 3
1Ophthalmology,Hospital Universitari Son Llàtzer,Palma de Mallorca,Spain, 2Ophthalmology,Miranza-IBO,Palma de Mallorca,Spain, 3Internal Medicine,Hospital Universitari Son Llàtzer,Palma de Mallorca,Spain
Purpose
Transthyretin Familial Amyloid Polyneuropathy (TTR-FAP) is a rare disease, with a prevalence of 1/100,000 European inhabitants. The island of Mallorca represents the 5th global hotspot for this condition. In this disorder, an aberrant aggregation of mutated transthyretin manifests systemically. Due to amyloidogenesis at the retinal pigment epithelium (RPE), approximately 30% of patients display ocular pathology, characterized mainly by vitreous opacities from amyloid deposition, peculiar pupillary indentations, secondary cataracts, and aggressive glaucoma.
We performed a comprehensive analysis of a cohort comprising 163 patients diagnosed with TTR-FAP, introducing a novel therapeutic surgical strategy for their management.
Setting
Ophtalmology Department, Son Llàtzer University Hospital, Palma de Mallorca, Spain.
A cohort analysis of 163 patients diagnosed with Transthyretin Familial Amyloid Polyneuropathy (TTR-FAP).
Methods
We performed a retrospective observational study including a cohort of 163 patients diagnosed with TTR-FAP, describing the prevalence of each ocular afection. The diagnosis of the desease was made through DNA analysis, primarily identifying the Val50Met TTR variant. Our investigation focused on determining the prevalence rates of significant ocular complications within our population and introducing a novel therapeutic surgical strategy for their management.
Results
32% of our patients showed chronic glaucoma with trabecular amyloid infiltration. Among them, 60% needed filtrating surgery. Pupillary indentations correlate with glaucoma onset and severity. In our series, 78% with this condition developed glaucoma, and it was observed in all who progressed to surgical glaucoma treatment.
39% displayed vitreous opacities from amyloid accumulation, causing visual decline. Amyloid adheres in columns on the inner limiting membrane (ILM) and lens capsule, leading to "pseudopodia lentis" patognimonic sign. Therefore, most of these patients required one (38%) or several (21%) vitrectomies, as well as early complex cataract surgery (69%). 22% of patients in the series have deceased due to their systemic condition.
Conclusions
Considering the evolution of all patients, most required multiple glaucoma surgeries. Therefore, we have recently changed our therapeutic approach to managing these aggressive secondary glaucomas, focusing on a definitive and resolving surgical technique that prevents obstruction by amyloid material and excessive scarring that may compromise surgery. Our current technique of choice is phacoemulsification and complete vitrectomy with peeling of the ILM and panretinal photocoagulation, to remove amyloid material, prevent its adhesion, and reduce its future production. This is combined in the same surgical procedure with filtering surgery using a Baerveldt valve implant in the vitreous chamber for definitive intraocular pressure (IOP) control.