Rare Genetic Disease Detected Through Eye Inflammation in Italy
A 52-year-old patient of Albanian origin received a diagnosis of hereditary transthyretin amyloidosis (hATTR) after seeking care for eye inflammation at the Ocular Immunology Unit of the Ausl-Irccs of Reggio Emilia in Italy. The case highlights the crucial role of ocular immunology in identifying rare diseases that manifest with complex symptoms. The diagnosis as well prompted genetic screening within the patient’s family, revealing a history of the disease spanning three decades.
The Diagnostic Journey
The patient initially presented with inflammation inside the eye in October 2025. Ophthalmologist Luca De Simone and Professor Luca Cimino, director of the ocular immunology unit, suspected a disease affecting multiple organs. Further diagnostic testing, including an operation on the eye performed by Dr. Marco Vecchi, confirmed a hereditary form of transthyretin amyloidosis.
Understanding Transthyretin Amyloidosis
Hereditary transthyretin amyloidosis (hATTR) is a rare genetic disease characterized by the buildup of abnormal amyloid proteins in various organs and tissues, leading to their progressive dysfunction [1]. This protein buildup can affect the nerves, heart, kidneys, and other vital organs. The disease is caused by mutations in the TTR gene, which provides instructions for making the transthyretin protein.
Family History and Genetic Screening
The patient’s family history revealed a pattern of deaths of unclear origin over the past three decades, suggesting the disease had been present within the family for some time. Following the diagnosis, genetic screening of family members is underway to identify other affected individuals or carriers of the mutation, enabling them to receive appropriate care.
The Role of Ocular Immunology
This case underscores the importance of ocular immunology in the diagnostic process for complex inflammatory eye conditions and in recognizing ocular signs that may indicate underlying rare diseases. The Ausl-Irccs of Reggio Emilia emphasizes the value of integrated care models and interdisciplinary approaches in diagnosing rare diseases and the ophthalmologist’s role in early detection.
Advances in Uveitis Diagnosis and Treatment
Recent research from the Reggio Emilia Uveitis Clinic indicates changing patterns in uveitis diagnoses. A study evaluating data from November 2015 to December 2023, focusing on pediatric cases (≤ 16 years old), found that non-infectious systemic disease aetiologies were the most frequent cause of uveitis (47.5%), followed by infectious uveitis (15.2%) [3]. Idiopathic uveitis accounted for 34.6% of cases. The leverage of immunosuppressants, including antimetabolites, calcineurin inhibitors, and biologics, is also increasing [3].
A separate analysis of uveitis cases at the same clinic between November 2015 and April 2022 showed that anterior uveitis was the most common diagnosis (53.7%), followed by posterior (21.6%), pan- (18.5%), and intermediate (6.2%) uveitis [1]. The most identifiable specific diagnoses were anterior herpetic uveitis (18.4%), Fuchs uveitis (12.8%), and tuberculosis (6.1%) [1].
Future Directions
The Ausl-Irccs of Reggio Emilia remains committed to developing diagnostic and therapeutic pathways for rare diseases, integrating specialized clinical assistance, research, and collaboration between different departments. This approach aims to improve the understanding of complex clinical presentations and provide better care for patients with rare conditions.