Aim Detailed longitudinal evaluation of corneal and other ophthalmological features of patients with lipoid proteinosis (LP).
Methods Ophthalmological examinations, chart review, ultrasound biomicroscopy, corneal confocal microscopic examinations with Nidek confoScan 4 and direct sequencing of the extracellular matrix protein 1 gene in individuals from three consanguineous Saudi families with LP.
Results Seven individuals affected with LP (four female and three male subjects) were evaluated together with nine unaffected parents and siblings. All affected individuals had homozygous mutations in extracellular matrix protein 1. Four patients were examined frequently (every 6 months) beginning in infancy and early childhood. Globe and vision were normal in all individuals, and moniliform blepharosis always appeared after the age of 4 years. Prominent corneal nerves were detected in all patients regardless of age and were more apparent in patients with more severe genetic mutations. Conversely, the severity of moniliform blepharosis seemed age-dependent rather than genotype-related.
Conclusion Prominent corneal nerves can be helpful in the early diagnosis of LP and should be added to the list of LP ophthalmological diagnostic features.
- Lipoid proteinosis
- corneal nerves
- moniliform blepharosis
- ECM1 gene
- eye lids
- lacrimal drainage
- lacrimal gland
- child health (paediatrics)
- optic nerve
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Funding This work was supported by the King Abdul Aziz City for Science and Technology (Project AT-29-31) and the Research Center of the College of Medicine, King Saud University, Riyadh. KAA and TMB were supported in part by the Glaucoma Research Chair of the Department of Ophthalmology, College of Medicine, King Saud University.
Competing interests None.
Patient consent Obtained.
Ethics approval Ethics approval was provided by the Institutional Review Board (IRB), Ophthalmology Department, College of Medicine, King Saud University.
Provenance and peer review Not commissioned; externally peer reviewed.