Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report

ABSTRACT

Background

Stickler syndrome (STL) is a collagenopathy caused by pathogenic variants in collagen-coding genes, mainly COL2A1 or COL11A1 associated with Stickler syndrome type 1 (STL1) or type 2 (STL2), respectively. Affected individuals manifest ocular, auditory, articular, and craniofacial findings in varying degrees. Previous literature and case reports describe high variability in clinical findings for patients with STL. With this case report, we broaden the clinical spectrum of the phenotype.

Materials and methods

Case report on two members of a family (mother and son) including clinical examination and genetic testing using targeted trio whole exome sequencing (trio-WES).

Results

A boy and his mother presented with microphthalmia, congenital cataract, ptosis, and moderate-to-severe sensorineural hearing loss. Trio-WES found a novel heterozygote missense variant, c.4526A>G; p(Gln1509Arg) in COL11A1 in both affected individuals.

Conclusions

We report a previously undescribed phenotype associated with a COL11A1-variant in a mother and son, expanding the spectrum for phenotype-genotype correlation in STL2, presenting with microphthalmia, congenital cataract, and ptosis not normally associated with Stickler syndrome.

KEYWORDS:

• Arthroophthalmopathy
• COL11A1
• congenital cataract
• microphthalmia
• Stickler syndrome

Abbreviation

D	=	Diopters
ID	=	Intellectual Disability
IOP	=	Intraocular pressure
MRI	=	Magnetic resonance imaging
MS	=	Marshall syndrome
NGS	=	Next-generation sequencing
Trio-WES	=	Trio exome analysis
STL2	=	Stickler syndrome type 2
WES	=	Whole exome sequencing

Acknowledgments

We thank the family for their participation.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Authorship

All listed authors meet the Taylor & Francis authorship criteria as well as the Vancouver criteria.

Guidelines

This case report complies with the CARE guidelines.

Patient consent

Written informed consent was obtained from the patient (I-1) and the patient’s parents (II-2) for publication of this case report to the journal.

Additional information

Funding

“Fight for Sight, Denmark”, “Synoptik Fonden”, “Candys Foundation”, “Helsefonden”, “Jascha Fonden”, “Wholesaler Christian Andersen and wife Ingeborg Ovidia Signe Andersen, b. Schmidts Grant”, “Helene and Viggo Bruuns Foundation”, “Master Carpenter Jørgen Holm and wife Elisa, b. Hansen Memorial Grant.”