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Calcification of Vascular Smooth Muscle Cells and Imaging of Aortic Calcification and Inflammation

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Published on: May 31, 2016

Sclerochoroidal calcification associated with Albright's hereditary osteodystrophy.

Helena Lee¹, Periyasamy Kumar, James Deane

¹Department of Cardiovascular Sciences, Univeristy of Leicester, Leicester, UK. helenalee100@yahoo.co.uk

BMJ Case Reports

|July 21, 2012

Summary

This study reports a rare case of choroidal calcifications in a patient with Albright's hereditary dystrophy, leading to vision loss. Genetic testing confirmed a GNAS 1 mutation, highlighting a link between this condition and ocular complications.

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Area of Science:

Ophthalmology
Medical Genetics

Background:

Albright's hereditary dystrophy is a rare genetic disorder characterized by Albright's hereditary osteodystrophy, pseudohypoparathyroidism, and various other features.
Ocular manifestations in Albright's hereditary dystrophy are uncommon, making this case significant for understanding the full spectrum of the condition.

Observation:

A 47-year-old woman with a history of pseudohypoparathyroidism and developmental delay presented with gradual vision loss and visual field defects.
Ocular examination revealed bilateral choroidal elevations, confirmed as calcifications via ultrasonography and CT scan.
The patient exhibited subnormal vision, reduced color vision, and electrodiagnostic evidence of rod dysfunction.

Findings:

The patient presented with typical features of Albright's hereditary dystrophy.
Genetic analysis confirmed a GNAS 1 mutation, the causative gene for Albright's hereditary dystrophy.
Bilateral choroidal calcifications were identified as the cause of visual impairment.

Implications:

This case underscores the importance of comprehensive ophthalmological evaluation in patients diagnosed with Albright's hereditary dystrophy.
Identifying choroidal calcifications can lead to timely management and potentially preserve vision in affected individuals.
Further research into the GNAS 1 mutation's role in ocular development may reveal novel therapeutic targets.