Open AccessBilateral simultaneous disc edema and cataract associated with Albright hereditary osteodystrophy
Author(s) -
Sabyasachi Sengupta,
Ravilla D. Ravindran,
Veena Kannusamy,
Varsha Tamrakar
Publication year - 2012
Publication title -
middle east african journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.357
H-Index - 25
eISSN - 0975-1599
pISSN - 0974-9233
DOI - 10.4103/0974-9233.92136
Subject(s) - medicine , brachydactyly , pseudohypoparathyroidism , hyperphosphatemia , cataracts , short stature , physical examination , renal osteodystrophy , parathyroid hormone , ophthalmology , radiology , pediatrics , kidney disease , calcium
A 16-year-old female presented with poor vision in both eyes. On clinical examination, she had bilateral cataracts and optic disc edema bilaterally on ultrasound examination. Extensive intracranial calcification was evident on computerized tomography. Physical examination revealed short stature, rounded chubby face, dental abnormalities, brachydactyly, and obesity. Laboratory evidence of hypocalcemia, hyperphosphatemia, elevated parathyroid hormone level (indicative of pseudohypoparathyroidism) along with the constellation of phenotypical characteristics lead to a diagnosis of Albright's hereditary osteodystrophy. This case is being presented to increase awareness regarding presence of coexisting and previously undiagnosed hypocalcemic syndromes in pediatric cataracts. The role of an ophthalmologist may be pivotal in diagnosing such an entity as documented in the present case.