Sclerochoroidal calcification in a patient with classic Bartter’s syndrome

Sun, Hong; Demirci, Hakan; Shields, Carol L.; Shields, Jerry A.

doi:10.1016/j.ajo.2004.07.054

Cited by 20 publications

(8 citation statements)

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“…1 This condition is related to calcium pyrophosphate deposition in the sclera and possibly choroid, appearing as a yellow subretinal mass usually along the retinal vascular arcades. [2][3][4][5][6][7][8] In a recent analysis on 179 affected eyes, it was found that 79% of cases were idiopathic and 11% were secondary to systemic abnormalities of parathyroid or renal origin (Shields et al, unpublished data).…”

mentioning

confidence: 95%

Classification of Sclerochoroidal Calcification Based on Enhanced Depth Imaging Optical Coherence Tomography “Mountain-Like” Features

Hasanreisoğlu

Saktanasate

Shields

et al. 2015

Retina

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confidence: 95%

Classification of Sclerochoroidal Calcification Based on Enhanced Depth Imaging Optical Coherence Tomography “Mountain-Like” Features

Hasanreisoğlu

Saktanasate

Shields

et al. 2015

Retina

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“…Furthermore, optical coherence tomography, B-scan ultrasound, and computed tomography scanning demonstrated striking sclerochoroidal calcification (SCC) calcification in both eyes (see Fig. 1 ), which has been associated with both BS and GS [ 29 , 30 ].…”

Section: Resultsmentioning

confidence: 99%

The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing

Stevenson

Pagnamenta

Mack

et al. 2022

Journal of the Endocrine Society

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Bartter syndrome (BS) and Gitelman syndrome (GS) are renal tubular disorders affecting sodium, potassium and chloride reabsorption. Clinical features include muscle cramps and weakness, in association with hypokalaemia, hypochloraemic metabolic alkalosis and hyperreninemic hyperaldosteronism. Hypomagnesaemia and hypocalciuria are typical of GS, whilst juxtaglomerular hyperplasia is characteristic of BS. GS is due to SLC12A3 variants, whereas BS is due to variants in SLC12A1, KCNJ1, CLCNKA, CLCNKB, BSND, MAGED2 or CASR. We had the opportunity to follow-up one of the first reported cases of a salt-wasting tubulopathy, who based on clinical features was diagnosed with GS. The patient had presented at 10 years of age with tetany precipitated by vomiting or diarrhoea. She had hypokalaemia, a hypochloraemic metabolic alkalosis, hyponatraemia, mild hypercalcaemia, and normomagnesaemia, and subsequently developed hypocalciuria and hypomagnesaemia. A renal biopsy showed no evidence for juxta-glomerular hyperplasia. She developed chronic kidney failure aged 55 years, and ocular sclerochoroidal calcification, associated with BS and GS, aged >65 years. Our aim was therefore to establish the genetic diagnosis in this patient using whole genome sequencing (WGS). Leukocyte DNA was utilised for WGS analysis, and this revealed a homozygous c.226C>T (p.Arg76Ter) nonsense CLCNKB mutation, thereby establishing a diagnosis of BS type-3. WGS also identified two >5Mb regions of homozygosity, that suggested likely mutational heterozygosity in her parents, who originated from a Greek island with <1500 inhabitants and may therefore have shared a common ancestor. Our results demonstrate the utility of WGS in establishing the correct diagnosis in renal tubular disorders with overlapping phenotypes.

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“…The initial reports on SCC demonstrated that this condition is rarely associated with primary hyperparathyroidism, hypomagnesemia, Gitelman syndrome, and Bartter syndrome. [78910] A more recent update, however, provided evidence that association with electrolyte imbalance in the setting of hormonal abnormalities could occur more often than expected. Our team reported parathyroid adenoma in 15% of the patients with SCC and hyperparathyroidism in 27% of those who underwent systemic testing.…”

Section: Discussionmentioning

confidence: 99%

“…[78910] These renal abnormalities constitute a group of similar autosomal recessive disorders of sodium chloride transport causing renal tubular hypokalemic metabolic alkalosis. [11] Clinically, Bartter syndrome presents in childhood with polyuria, polydipsia, vomiting, frequent dehydration, and failure to thrive.…”

Section: Discussionmentioning

confidence: 99%

Stones, bones, groans, thrones, and psychiatric overtones: Systemic associations of sclerochoroidal calcification

et al. 2017

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Sclerochoroidal calcification (SCC) is a frequent masquerader of choroidal melanoma with important systemic associations such as hyperparathyroidism and parathyroid adenoma. Herein, we describe a case of a 67-year-old male who presented with an amelanotic choroidal lesion in the right eye (OD) and a history of kidney stones. Ultrasonography showed the lesion to be flat and calcified OD. Incidentally, a subclinical calcified plaque was also found in the fellow eye. Optical coherence tomography showed an elevated suprachoroidal mass in a table mountain configuration OD and flat configuration left eye, consistent with type 4 and type 1 SCC. The patient was referred for metabolic testing to rule out the underlying electrolyte imbalance and was found to be normal.

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Sclerochoroidal calcification in a patient with classic Bartter’s syndrome

Cited by 20 publications

References 5 publications

Classification of Sclerochoroidal Calcification Based on Enhanced Depth Imaging Optical Coherence Tomography “Mountain-Like” Features

Classification of Sclerochoroidal Calcification Based on Enhanced Depth Imaging Optical Coherence Tomography “Mountain-Like” Features

The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing

Stones, bones, groans, thrones, and psychiatric overtones: Systemic associations of sclerochoroidal calcification

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