Literature DB >> 22778290

An ocular presentation of familial tumoral calcinosis.

Emer McGrath1, Fiona Harney, Frank Kinsella.   

Abstract

This case report presents the ophthalmic features and complications of a 56-year-old Caucasian woman with familial tumoral calcinosis. She presented to our ophthalmology clinic with a 3-month history of blurring of her vision. She had been diagnosed 14 years earlier with familial tumoral calcinosis. Ophthalmological examination revealed calcific depositions on the eyelid margins, perilimbal calcific deposits and angioid streaks. An optical coherence tomography scan of the left eye revealed a choroidal neovascular membrane. Deterioration in vision occurred secondary to subretinal haemorrhage, resulting from the angioid streak. The patient was treated with a series of three intravitreal ranibizumab injections to her left eye, which led to an improvement in her visual acuity (VA). The patient is being closely followed up with monthly appointments, and to date, after 6 months of follow-up, there has been no further deterioration in her VA or reactivation of the choroidal neovascular membrane.

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Year:  2010        PMID: 22778290      PMCID: PMC3029978          DOI: 10.1136/bcr.05.2010.3044

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


  17 in total

1.  Tumoral calcinosis. Report of three cases and review of the literature.

Authors:  D L BARTON; R J REEVES
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1961-08

2.  Heterotopic calcification, hyperphosphatemia and angioid streaks of the retina.

Authors:  J J MCPHAUL; F L ENGEL
Journal:  Am J Med       Date:  1961-09       Impact factor: 4.965

3.  Band keratopathy and calcific lid lesions in tumoral calcinosis. Case reports.

Authors:  D E Bruns; W Lieb; B P Conway; J Savory; M R Wills; A L Boskey
Journal:  Arch Ophthalmol       Date:  1988-06

4.  Intravitreal bevacizumab for the management of choroidal neovascularization in pseudoxanthoma elasticum.

Authors:  Pawan Bhatnagar; K Bailey Freund; Richard F Spaide; James M Klancnik; Michael J Cooney; Ivan Ho; Howard F Fine; Lawrence A Yannuzzi
Journal:  Retina       Date:  2007-09       Impact factor: 4.256

5.  Tumoral calcinosis: a pathological study of fifty-six cases.

Authors:  P H McKee; N G Liomba; M S Hutt
Journal:  Br J Dermatol       Date:  1982-12       Impact factor: 9.302

6.  Imaging of tumoral calcinosis: new observations.

Authors:  S Martinez; J B Vogler; J M Harrelson; K W Lyles
Journal:  Radiology       Date:  1990-01       Impact factor: 11.105

7.  Tumoral calcinosis, diaphysitis, and hyperphosphatemia.

Authors:  E Clarke; L E Swischuk; C K Hayden
Journal:  Radiology       Date:  1984-06       Impact factor: 11.105

8.  Tumoral calcinosis. Controversies in the etiology and alternatives in the treatment.

Authors:  S Tezelman; A E Siperstein; Q Y Duh; O H Clark
Journal:  Arch Surg       Date:  1993-07

9.  Ocular tumoral calcinosis. A clinicopathologic study.

Authors:  F Ghanchi; A Ramsay; S Coupland; D Barr; W R Lee
Journal:  Arch Ophthalmol       Date:  1996-03

10.  Hyperphosphatemic tumoral calcinosis: association with elevation of serum 1,25-dihydroxycholecalciferol concentrations.

Authors:  M J Prince; P C Schaeffer; R S Goldsmith; A B Chausmer
Journal:  Ann Intern Med       Date:  1982-05       Impact factor: 25.391

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  6 in total

Review 1.  Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature.

Authors:  M Chakhtoura; M S Ramnitz; N Khoury; G Nemer; N Shabb; A Abchee; A Berberi; M Hourani; M Collins; S Ichikawa; G El Hajj Fuleihan
Journal:  Osteoporos Int       Date:  2018-06-20       Impact factor: 4.507

Review 2.  Hyperphosphatemic familial tumoral calcinosis: genetic models of deficient FGF23 action.

Authors:  Lisal J Folsom; Erik A Imel
Journal:  Curr Osteoporos Rep       Date:  2015-04       Impact factor: 5.096

3.  Phosphate, fibroblast growth factor 23 and retinopathy in chronic kidney disease: the Chronic Renal Insufficiency Cohort Study.

Authors:  Rupal Mehta; Gui Shuang Ying; Samuel Houston; Tamara Isakova; Lisa Nessel; Akinlolu Ojo; Alan Go; Jim Lash; John Kusek; Juan Grunwald; Myles Wolf
Journal:  Nephrol Dial Transplant       Date:  2015-04-24       Impact factor: 5.992

4.  Ocular involvement in tumoral calcinosis.

Authors:  Harsha Bhattacharjee; Kasturi Bhattacharjee; Dina Kumar Yambem
Journal:  Indian J Ophthalmol       Date:  2014-08       Impact factor: 1.848

Review 5.  Hyperphosphatemic Tumoral Calcinosis: Pathogenesis, Clinical Presentation, and Challenges in Management.

Authors:  Alison M Boyce; Alisa E Lee; Kelly L Roszko; Rachel I Gafni
Journal:  Front Endocrinol (Lausanne)       Date:  2020-05-08       Impact factor: 5.555

Review 6.  Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature.

Authors:  Silje Rafaelsen; Stefan Johansson; Helge Ræder; Robert Bjerknes
Journal:  BMC Genet       Date:  2014-09-24       Impact factor: 2.797

  6 in total

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