# Idiopathic Sclerochoroidal Calcification With a Concurrent COL11A2 Variant: A Case Report

## TL;DR

A patient with bilateral sclerochoroidal calcification and a COL11A2 gene variant is reported, suggesting a possible but unproven link to inherited collagen disorders.

## Contribution

This is the first reported case linking SCC with a COL11A2 variant, highlighting the need for further research into inherited collagen disorders and SCC.

## Key findings

- Bilateral SCC was confirmed using multimodal imaging techniques.
- A heterozygous COL11A2 variant was identified through genetic testing.
- No causal relationship between the COL11A2 variant and SCC was established due to lack of segregation or functional data.

## Abstract

Sclerochoroidal calcification (SCC) is a rare ophthalmic finding often discovered during routine evaluation, characterized by calcium deposition within the sclera and choroid. We report a patient with bilateral SCC and a concurrent heterozygous COL11A2 variant. The patient reported gradual bilateral vision changes over several months. A fundus examination revealed yellow-white placoid lesions superior to the macula in both eyes, consistent with SCC. Multimodal imaging, including fundus autofluorescence (FAF), optical coherence tomography, and B-scan ultrasonography, confirmed the presence of calcified lesions with associated posterior shadowing. An initial metabolic and endocrine evaluation was unremarkable; however, genetic testing later revealed a heterozygous variant of uncertain significance in the COL11A2 gene. Because COL11A2 mutations are typically linked to non-ocular Stickler syndrome (Type III) and no segregation or functional data are available, no causal inference or association with SCC can be made. We emphasize that this hypothesis is preliminary and based on a single co-occurrence. To our knowledge, reported cases of SCC with concurrent inherited collagen disorders are lacking. Documenting such co-occurrences might facilitate future case aggregation and help characterize the clinical spectrum of SCC. Consideration of heritable connective tissue disease in patients with idiopathic SCC, particularly when standard evaluations are inconclusive, may broaden our current understanding; however, further studies are needed to determine whether any meaningful relationship exists.