Biettiʼs Corneal-Retinal Dystrophy

Bernauer, Wolfgang; Daicker, B.

doi:10.1097/00006982-199212010-00004

Cited by 48 publications

(36 citation statements)

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“…Although the inheritance mode is autosomal recessive in the vast majority of cases [2,9,10], two families with ''autosomal dominant crystalline retinopathy'' [6,11] and one family with an X-linked recessive mode of inheritance have been reported [7]. The inheritance mode of the present family strongly suggests autosomal recessive inheritance.…”

Section: Discussionmentioning

confidence: 66%

Functional and clinical findings in 3 female siblings with crystalline retinopathy

et al. 2007

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Section: Discussionmentioning

confidence: 66%

Functional and clinical findings in 3 female siblings with crystalline retinopathy

et al. 2007

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“…In 1977, Welch categorized the disease as crystalline retinopathy, so as to emphasize its salient features [6]. Since Bietti's original articles, less than a hundred cases of Bietti's crystalline dystrophy (BCD) have been described worldwide [2][3][4][6][7][8][9][10][11][12][13][14][15][16][17][18][19]. Some authors have suggested that it appears to be more common in individuals of Asian descent [2,6,7,[17][18][19].…”

Section: Discussionmentioning

confidence: 99%

“…Half of our patients presented in their third and fourth decades, while the other half presented a decade or two later. The diagnosis of BCD is made based on the findings of discrete glistening crystals within the retina, with the exclusion of secondary causes of crystalline retinopathy (Table 3) from the clinical history and systemic examination [7,10,11,18]. Although corneal crystals were described in Bietti's original cases [1] and in a third of the subsequent cases, they are not mentioned or present in half of the reported cases [2,11,15,18,19].…”

Section: Clinical Featuresmentioning

confidence: 99%

Bietti’s crystalline dystrophy in Asians: clinical, angiographic and electrophysiological characteristics

et al. 2008

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This article describes nine Chinese patients with Bietti's crystalline dystrophy, including two families, one consisting of three siblings and the other a pair of sisters. All patients had the classic refractile deposits located in all layers of the retina, with varying degrees of pigment epithelium atrophy. However, paralimbal crystals were not seen in the anterior corneal stroma. We describe clinical, angiographical and electrophysiological characteristics, and also review the literature on Bietti's crystalline dystrophy. All patients had full eye examination, including best corrected visual acuity, biomicroscopy, applanation tonometry and dilated funduscopy. Fluorescein angiography and indocyanine green angiography were performed, together with visual fields and electrophysiologic studies. All nine of our patients were phenotypically heterogeneous, with varying age and symptoms at presentation, as well as different degrees of progression. Age was not found to be a predictor of severity. The differences in disease severity, even within sibling groups, suggested that perhaps other factors were at play in phenotypic expression. We found that in early ICGA, all stages of BCD had delayed choroidal filling, which has not been previously described. We also observed a relative derangement of inner choroidal circulation as evidenced by late hypofluorescence on the ICGA. However, it is as yet unclear whether this circulatory disturbance is due to primary involvement of the posterior ciliary arteries, or secondary to choroidal and/or retinal pigment epithelial atrophy. While the FA and ICGA findings were similar, we found that the true extent of the atrophic areas was better delineated by ICGA. ICGA was also superior in outlining the degree and extent of choroidal vascular compromise.

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“…8 In our case, central vision deteriorated rapidly due to extension of exudation of peripapillary CNV to the fovea. The mechanism of CNV formation in our case is unclear; however, RPE and choroidal atrophy may have played a role.…”

Section: Commentmentioning

confidence: 53%