Association of EFEMP1 with juvenile-onset open angle glaucoma in a patient with concomitant COL11A1-related Stickler syndrome

ABSTRACT

Background

Juvenile onset open-angle glaucoma is described as a primary open-angle glaucoma, with an age of onset before 40 years. These patients have a higher prevalence of myopia.

Purpose

We describe the phenotype of juvenile onset open-angle glaucoma in a patient with a rare variant in EFEMP1 gene, who was also detected to have Stickler syndrome(STL).

Methods

Whole exome sequencing (WES) was undertaken in 40 unrelated families where the proband had juvenile onset open-angle glaucoma (JOAG).

Results

Out of these, eight were autosomal dominant, while the rest did not have any other affected first-degree relative. Out of the 8 autosomal dominant JOAG families, MYOC mutations were detected in 3(37.5%) and LTBP2 in 1(12.5%). One family (12.5%) had a rare EFEMP1 sequence variant in both affected father and daughter. The daughter also had high myopia and a pathogenic COL11A1 sequence variant that led to a coincidental diagnosis of STL in her.

Conclusions

This is a rare association of EFEMP1 and COL11A1 sequence variants in a JOAG patient with STL. The study also reiterates the association of JOAG with EFEMP1, which should be looked for, especially in families with autosomal dominant JOAG.

KEYWORDS:

• EFEMP1
• glaucoma
• JOAG
• Stickler syndrome

Author’s contributions

Concept, Design: Viney Gupta, Bindu Somarajan

Data Collection: Shikha Gupta, Karthikeyan Mahalingam, Manoj Kumar, Abhishek Singh

Overall Responsibility: Viney Gupta

Data availability statement

Data supporting the findings of the study are available from the corresponding author (VG) on request.

Disclosure statement

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

Ethics approval

The study was approved by the Institute Ethics Committee, AIIMS, New Delhi, India.

Additional information

Funding

This study was supported by funding from the Indian Council of Medical Research, New Delhi, India (Grant no. ISRM/12(58)/2019).