A 47-year-old woman presented with bilateral gradual loss of vision, ocular discomfort and seeing a black shadow in her right visual field over 6 months duration. Her medical history was extensive including: developmental delay, pseudohypoparathyroidism, hypertension, spinal stenosis, epilepsy and suspected idiopathic intracranial hypertension. Ocular examination revealed choroidal elevation in both eyes, which were highly ecogenic on ecography and confirmed to be calcifications of choroids on CT scan in her both eyes. She had subnormal vision and reduced colour vision in her both eyes. Electrodiagostic studies suggested rod dysfunction. She had typical features of Albright's hereditary dystrophy and was positive for the GNAS 1 mutation. She is currently being monitored by ophthalmologlists and is also under a medical team undergoing further assessment with regard to her treatment.
展开▼
