Ocular amyloid: adnexal and systemic involvement

ABSTRACT

Purpose: To investigate the natural history of ocular adnexal and orbital amyloidosis.

Methods: In a retrospective, non-comparative case series, the clinical records of patients with biopsy-proven ocular, adnexal, and orbital amyloidosis managed at our institution between 1980 and 2016 were evaluated.

Results: Forty-one patients (29 female; 71%) were identified. The mean interval from presentation to diagnosis was 24 months (median 12 months, range 1–84 months). Whilst most patients presented with a conjunctival mass (34/41; 83%) or ptosis (15/41; 37%), the diagnosis was not immediately evident in all – two patients had 3 ptosis operations prior to obtaining a tissue biopsy that revealed amyloid deposition. Three-quarters (31/41; 76%) of patients had localised primary ocular adnexal and orbital amyloidosis, 4 (10%) had associated systemic disease, and 6 (15%) were found to have underlying haematological malignancy on further investigation. During a mean follow-up of 8 years (median 7 years; range 6 months – 36 years), 2 (5%) patients lost vision, 21 (51%) had surgical intervention other than biopsy, and 2 (5%) had local radiotherapy for amyloid deposition secondary to lymphoproliferative disease.

Conclusions: The varied presentations of ocular adnexal and orbital amyloidosis and the need for confirmatory biopsy often leads to a significant delay between first symptoms and diagnosis. While rarely sight-threatening, ocular adnexal and orbital amyloidosis carries significant morbidities and has a systemic association in a quarter of patients.

KEYWORDS:

• Adnexal
• amyloid
• amyloidosis
• ocular
• orbital

Acknowledgments

We would like to thank our consultant colleagues for sanctioning review of patients under their care.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the article.