Literature DB >> 22814975

Sclerochoroidal calcification associated with Albright's hereditary osteodystrophy.

Helena Lee1, Periyasamy Kumar, James Deane.   

Abstract

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.

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Mesh:

Year:  2012        PMID: 22814975      PMCID: PMC4543102          DOI: 10.1136/bcr-03-2012-6022

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  17 in total

1.  Sclerochoroidal calcification with choroidal neovascularization.

Authors:  A Leys; P Stalmans; J Blanckaert
Journal:  Arch Ophthalmol       Date:  2000-06

2.  Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: identification of two novel mutations.

Authors:  G Mantovani; R Romoli; G Weber; V Brunelli; E De Menis; S Beccio; P Beck-Peccoz; A Spada
Journal:  J Clin Endocrinol Metab       Date:  2000-11       Impact factor: 5.958

3.  Pseudo-pseudohypoparathyroidism.

Authors:  F ALBRIGHT; A P FORBES; P H HENNEMAN
Journal:  Trans Assoc Am Physicians       Date:  1952

4.  Idiopathic sclerochoroidal calcification.

Authors:  A Sivalingam; C L Shields; J A Shields; J A McNamara; L M Jampol; W J Wood; G Daubert
Journal:  Ophthalmology       Date:  1991-05       Impact factor: 12.079

Review 5.  GNAS locus and pseudohypoparathyroidism.

Authors:  Murat Bastepe; Harald Jüppner
Journal:  Horm Res       Date:  2005-02-09

Review 6.  G protein mutations in endocrine diseases.

Authors:  A Lania; G Mantovani; A Spada
Journal:  Eur J Endocrinol       Date:  2001-11       Impact factor: 6.664

7.  Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly.

Authors:  B E Hayward; A Barlier; M Korbonits; A B Grossman; P Jacquet; A Enjalbert; D T Bonthron
Journal:  J Clin Invest       Date:  2001-03       Impact factor: 14.808

8.  Sclerochoroidal calcification associated with Gitelman syndrome and calcium pyrophosphate dihydrate deposition.

Authors:  R Gupta; V Hu; T Reynolds; R Harrison
Journal:  J Clin Pathol       Date:  2005-12       Impact factor: 3.411

9.  Choroidal neovascularization as a late complication of hyperparathyroidism.

Authors:  S Y Cohen; M Guyot-Sionnest; M Puech
Journal:  Am J Ophthalmol       Date:  1998-08       Impact factor: 5.258

10.  [Sclerochoroidal calcifications with vision-threatening choroidal neovascularisation].

Authors:  W Dedes; M K Schmid; C Becht
Journal:  Klin Monbl Augenheilkd       Date:  2008-05       Impact factor: 0.700

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