ESCRS - POGAU023 - A Rare Case Of Nlrp12 Related Familial Cold Autoinflammatory Syndrome Type 2 Associated With Unilateral Secondary Glaucoma.

A Rare Case Of Nlrp12 Related Familial Cold Autoinflammatory Syndrome Type 2 Associated With Unilateral Secondary Glaucoma.

Published 2026 - 44th Congress of the ESCRS

Reference: POGAU023 | Type: Poster | DOI: 10.82333/85z0-w691

Authors: Dr Ramsha anwar ali Safri* 1 , A/Prof. Mahmood Ali 2 , Dr Anam Safri 3

1general ophthalomology,alshifa trust eye hospital ,rawalpindi,Pakistan, 2glaucoma,alshifa trust eye hospital ,rawalpindi,Pakistan, 3independent scholar,Atlanta, Georgia,United States

Purpose

To present a rare case of familial cold autoinflammatory syndrome type 2 also known as NLRP12 related autoinflammatory disease and its unique association with unilateral recurrent anterior uveitis leading to secondary glaucoma, managed by topical antiglaucoma medicines initially and later diode laser trans-scleral cyclophotocoagulation using a micropulse probe for intraocular pressure control. 

Setting

The examination and procedure was conducted at Al Shifa Trust Eye Hospital (ASTEH), Rawalpindi, Pakistan. Patient presented on 21stMay, 2025 and is still under care of glaucoma department at ASTEH. ASTEH is a specialised eye care public hospital. 

Methods

Examination methods included Visual acuity by snellen's chart, retinoscopy, slit lamp examination, goldmann aplannation tonometery, gonioscopy by goldmann 3 mirror lens, fundoscopy, B-scan, OCT macula, RNFL OCT, AS-OCT, UBM, confocal biomicroscopy, corneal topography, genetic testing and blood tests.

Results

After detailed history, thorough systemic and ocular examination, extensive tests and ruling out other differential diagnosis, a diagnosis of Familial cold autoinflammatory syndrome 2 was made, along with that a unique ocular mainfestation of recurrent unilateral anterior uveitis was discovered. Recurrent self limiting anterior segment inflammation triggered by cold, led to uncontrollable secondary glaucoma ultimately managed by diode laser trans-scleral cyclophotocoagulation using a micropulse probe. Uveitis was accompanied with episodes of fever, arthalgias, myalgias and rash which resolved spontaneously. The patient was referred to medical specialist and counselled regarding the disease process, visual prognosis and complications. 

Conclusions

This case highlighted a rare and previously unreported association between FCAS2 and recurrent unilateral anterior uveitis leading to secondary glaucoma. Clinicians should consider autoinflammatory syndromes in patients presenting with recurrent inflammatory episodes and atypical ocular findings, particularly when systemic symptoms are triggered by cold exposure.