Work

Beware the midline scalp lump in a patient with retinal dystrophy

Year: 2025

Type: article

Abstract: A 49-year-old woman with high myopia, microcornea, early-onset cataracts with lens dislocation, and long-standing retinal dystrophy presented for ophthalmic genetic evaluation. Fundus imaging showed extensive chorioretinal and macular atrophy with retinal pigmentation ( A, B ). She also reported a longstanding "sebaceous cyst" on her occiput awaiting excision ( C ). The ophthalmic findings raised suspicion of Knobloch syndrome. Given its association with midline occipital defects, excision of the scalp lesion was deferred and genetic testing undertaken. This identified biallelic loss-of-function variants in COL18A1 , confirming the diagnosis. Subsequent MRI neuroimaging demonstrated a midline extracranial cystic structure with intracranial extension, consistent with an encephalocele ( D ), a recognised feature of this condition.

Source: Eye

DOI: 10.1038/s41433-025-04010-x

Authors: Siying Lin, Graeme C. Black

Institutions: Manchester Royal Eye Hospital, University of Manchester, St Mary's Hospital, Manchester University NHS Foundation Trust

Language: English

Topic: Ocular Disorders and Treatments

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $3,590