Bietti's Crystalline Retinopathy Research Articles

Clinical and genetic characterization of a large cohort of Chinese patients with Bietti crystalline retinopathy.

To investigate the clinical and genetic characteristics for a large cohort of Chinese patients with Bietti crystalline retinopathy (BCR). A total of 208 Chinese BCR patients from 175 families were recruited. Comprehensive clinical evaluations and genetic analysis were performed. Genotype-phenotype correlations were evaluated through statistical analysis. The patients' median age was 37 years (range, 20-76 years). The median best corrected visual acuity (BCVA) was 0.8 LogMAR unit (range, 2.8 to -0.12). A significant decline of BCVA was revealed in patients over 40 years old (P<0.001). Two clinical types were observed: peripheral type (type P) and central type (type C). Significantly more type C patients had a worse central visual acuity, but a more preserved retinal function (P<0.05). Molecular screening detected biallelic CYP4V2 pathogenic variants in 98.3% (172/175) of the families, including 19 novel ones. The most frequent pathogenic variant was c.802-8_810del17insGC, with the allele frequency of 55.7% (195/350), followed by c.992A>C (28/350, 8%) and c.1091-2A>G (23/350, 6.6%). BCR patients with one c.802-8_810del17insGC and one truncating variant (IVS6-8/Tru) had BCVA>1.3 LogMAR unit (Snellen equivalent<20/400) at a younger age than those with homozygous c.802-8_810del17insGC variants (homo IVS6-8) (P=0.031). BCR patients preserved relatively good vision before 40 years old. Two distinct clinical types of BCR were observed. BCR patients with IVS6-8/Tru had an earlier decline in visual acuity than those with homo IVS6-8. Our findings enhance the knowledge of BCR and will be helpful in patient selection for gene therapy.

Crystalline retinopathy and optical coherence tomography angiography: new insights in pathogenesis

: Optical coherence tomography angiography (OCTA) is a fast, non-invasive imaging modality that provides detailed information on retinal and choroidal vascular flow and macular structure. OCTA offers an accurate three-dimensional view of the individual retinal vascular plexuses and the choriocapillaris which facilitates the detection of the microvascular abnormalities in a variety of macular diseases. The perfusion indices (vessel density and flow index) are valuable parameters evaluated by OCTA that allow a quantitative interpretation of changes in the retinal vasculature that can reflect the severity of disease. Crystalline retinopathy encompasses a group of conditions whose distinctive feature is the presence of retinal crystals often located in the posterior pole. Select crystalline retinopathies also demonstrate retinal vascular abnormalities as well. Considering that the OCTA is a novel imaging modality and crystalline retinopathies are relatively rare conditions, there are currently few reports of OCTA findings associated with crystalline retinopathy. The advent of OCTA allows visualization of vascular and structural changes in crystalline retinopathies that are unique and cannot be appreciated on other imaging modalities, including fluorescein angiography (FA). This article reviews novel OCTA findings which provide new insights in the pathogenesis of crystalline retinopathies, including Bietti crystalline retinopathy, talc retinopathy, macular telangiectasia type 2, tamoxifen retinopathy, and Sjögren-Larsson Syndrome maculopathy.

Objective Determination of Retinal Function in Bietti Crystalline Retinopathy.

A 44-year-old female patient without any known systemic or ocular disease presented with progressive visual loss and night vision disturbance. Visual acuity was 0.6 in the right eye and 0.2 in the left eye. Tiny, yellow crystalline deposits were seen on fundus examination. In addition, areas of retinal pigment epithelium and choriocapillaris atrophy were detected. Rod and cone responses were depressed in full-field flash electroretinogram. Multifocal electroretinogram testing showed severe foveal function disturbance with less severe but still depressed responses toward the periphery. Multiple hyperreflective lesions were detected in the retina in optical coherence tomography. We aimed to present the role of ocular electrophysiology by comparing the patient’s signs and symptoms with her ocular electrophysiological test results.

Relapse of choroidal neovascularization in Bietti's crystalline retinopathy following anti-vascular endothelial growth factor therapy: A case report.

Choroidal neovascularization secondary to retinitis pigmentosa is rarely observed in clinical practice. The present study describes a case of atypical retinitis pigmentosa, crystalline retinal pigmentary degeneration, complicated by choroidal neovascularization (CNV) in a 26-year-old man presenting with blurred vision in the right eye. Heidelberg multimodality imaging was performed to achieve a confirmed diagnosis. Bevacizumab was injected once intravitreally. The 3-month follow-up included visualization of the lesion's regression with spectral domain optical coherence tomography (SD-OCT). However, at 3 months after the injection, the CNV reoccurred. To the best of our knowledge, this is the first time that a case of CNV secondary to retinitis pigmentosa, in which the diagnosis was confirmed via multimodality imaging and the therapeutic efficacy was evaluated by SD-OCT, has been reported in China.

Crystalline retinopathy

AbstractRefractile crystalline deposits in the retina may be a manifestation of drug toxicity.The five drugs known to produce this side effect are: (1)Tamoxifen‐non steroidal estrogen antagonist used in the treatment of breast cancer. (2)Canthaxanthine‐tanning agent for skin pigmentation in vitiligo and for the treatment of photosensitivity in psoriasis and erythrotic porphyrias. (3)Crashed tablets of Methadone, Mepiridine hydrochloride and Methylphenylate that are injected intravenously in drug abusers‐Talc Retinopathy. (4)Methoxyflurane‐an inhalational anesthetic agent . (5)Nitrofurantoin‐an antibiotic used in the treatment of urinary tract infections. Daily doses and cumulative doses that give rise to these deposits will be presented and the fundus/clinical features of each drug as well. Since primary ocular disorders (Bietti's crystalline retinopathy, idiopathic parafoveal telengiectasis, calcified macular drusen) and systemic disorders (oxalosis, cystinosis,Sjogren Larsson syndrome) are known to be associated with crystals in the retina,the differential diagnosis of this clinical entity will be discussed.

Cystoid Macular Edema in Bietti's Crystalline Retinopathy.

A 27-year-old man with progressive bilateral visual decline was diagnosed to have Bietti's crystalline dystrophy (BCD). Fluorescein angiography revealed bilateral petaloid type late hyperfluorescence implicating concurrent cystoid macular edema (CME). Optical coherence tomography exhibited cystoid foveal lacunas OU. During the follow-up of six years, intraretinal crystals reduced in amount but CME persisted angiographically and tomographically. CME is among the rare macular features of BCD including subfoveal sensorial detachment, subretinal neovascular membrane, and macular hole.

Outer retinal circular structures in patients with Bietti crystalline retinopathy

BackgroundBietti crystalline retinopathy (BCR) is a distinct retinal degenerative disease characterised by retinal degeneration with many yellow–white crystals located mainly at the posterior pole area. Using spectral domain-optical coherence tomography...

Bietti crystalline retinal dystrophy with subfoveal neurosensory detachment and congenital tortuosity of retinal vessels: case report

A 34-year-old man presented with reduction and distortion of vision in both the eyes. The best-corrected vision was 20/20 parts, N6 in either eye. The external and slit lamp examination of both the eyes was unremarkable. The fundus examination showed multiple intraretinal crystalline deposits at the posterior pole, extending up to midperiphery, tortuous retinal blood vessels with S-shaped deflections, and absent foveal reflex in both the eyes. There were no corneal crystals, and the color vision was defective in both the eyes. Fundus autofluorescence and fundus fluorescein angiogram (FFA) were suggestive of geographic areas of retinal pigment epithelium (RPE) and choriocapillary (CC) loss. OCT revealed subfoveal neurosensory detachment. Flash ERG and EOG were normal except for a slight decrease in amplitude and delay in latency of pattern ERG waveforms. The Humphrey's visual field showed paracentral scotoma with reduction in the amplitude of waveforms from the corresponding area in the multifocal ERG in both the eyes. Systemic evaluation for crystalline retinopathy was unremarkable. He was diagnosed to be a case of Bietti crystalline retinopathy (local/regional variant). The subfoveal neurosensory detachment could represent early RPE dysfunction caused by these crystals and could account for the mild visual disturbance in both the eyes. Retinal vascular tortuosity and neurosensory detachment seen in this case is the first time to be reported in literature.

Ranibizumab for subfoveal choroidal neovascularization in Bietti crystalline retinopathy

Ranibizumab for subfoveal choroidal neovascularization in Bietti crystalline retinopathy

High-Resolution Optical Coherence Tomography Shows New Aspects of Bietti Crystalline Retinopathy

High-Resolution Optical Coherence Tomography Shows New Aspects of Bietti Crystalline Retinopathy

Two Female Siblings With Bietti Crystalline Retinopathy Without Corneal Dystrophy

Purpose: To report clinical and functional results in two female siblings with Bietti crystalline retinopathy. Case summary: Recently, a 48-year-old female with bilateral intraretinal depositions presented with a complaint of decreased visual acuity and night blindness in both eyes. Several tiny glistening yellow intraretinal crystalline depositions were observed. Fluorescein angiography showed a well-demarcated choriocapillaris filling defect and pigment epithelial window defect. Electrophysiologic tests showed decreased amplitude and OCT scans showed fine intraretinal lesions with increased signal intensity. In addition, a 50-year-old female sibling presented with bilateral yellow, intraretinal crystalline depositions. A choriocapillaris filling defect and pigment epithelial window defect in a fluorescein angiography was observed. Electrophysiologic tests showed severely decreased amplitude. Conclusions: Two female siblings with Bietti crystalline retinopathy are reported.

Functional and clinical findings in 3 female siblings with crystalline retinopathy

To present functional and clinical findings in three female siblings with crystalline retinopathy. Functional and clinical examinations, including full-field and multi-focal electroretinograms (ERG), visual field, dark adaptation and fundus fluorescein angiography (FFA) were performed in three female siblings of a nonconsanguineous Chinese family, who exhibited characteristic retinal crystalline flecks of Bietti crystalline retinopathy. Ophthalmological examination revealed similar findings in the first and second daughter of the family. Best-corrected visual acuity was hand movement and finger counting respectively and funduscopic examination showed RPE clumping and relatively fewer yellow-white deposits in the posterior pole and mid-peripheral retina. FFA revealed massive RPE and choriocapillaris destruction. Ganzfeld ERG was undetectable or reduced markedly and multifocal ERG showed all responses were markedly depressed. Ophthalmological examination showed relative preservation of retinal function in the third daughter of the family (the proband). Best-corrected visual acuity was 0.5 in the right eye and 0.4 in the left eye. Funduscopic examination showed numerous crystal deposits scattered throughout the posterior pole. Dark adaptation revealed rod thresholds elevated dramatically and visual field examination demonstrated paracentral scotomas in both eyes. Full-field ERG was decreased slightly and multifocal ERG showed the central responses were markedly depressed. The present study describes typical crystalline retinopathy affecting three female siblings in a family.

Clinical and genetic heterogeneity of crystalline retinopathies: report of two families without bietti crystalline dystrophy.

To report variations in the inheritance pattern and clinical presentation of crystalline retinopathies. Two different families with crystalline retinopathy were studied with a complete family history and ophthalmologic examination including Goldmann kinetic perimetry and electroretinography. Genetic studies were performed in one of the families. One of the families had a clearly autosomal dominant mode of inheritance while the other family most likely follows an autosomal recessive pattern. Several members in each family had significant retinal pigment epithelial atrophy, intraretinal crystals, relatively pink optic nerves, and paracentral visual field defects, all of which are clinical features resembling those of Bietti crystalline retinopathy. Examination of peripheral leukocytes using transmission electron microscopy in selected affected members showed no evidence of classical lysosomal crystals that are characteristics for Bietti crystalline retinopathy. No pathogenic mutations were identified in the CYP4V2 gene. Not all crystalline retinopathies are Bietti's. Further genetic, biochemical, and pathologic studies are required to better differentiate between these retinopathies.

Occurrence of Full-Thickness Macular Hole Complicating Stargardt Disease with ABCR Mutation

To report an unusual episode of full-thickness macular hole complicating Stargardt disease with an ABCR mutation. Case report . Fundus examination of a 20-year-old healthy man showed typical fundus manifestation with yellowish-round or fish-like flecks associated with vitreous macular adhesion and a round punched-out area in the right eye. Optical coherence tomography (OCT) illustrated a full-thickness macular hole. Molecular genetic examination of the ABCR gene showed two heterozygous missense mutations: R1108C (CGC-->TGC) in exon 22 and a splicing mutation IVS6--> 1GT - described in the literature in association with Stargardt disease. Macular hole was once described in other inherited retinal degenerations (Best disease and Bietti crystal line retinopathy). The pathogenesis gives rise to a host of speculations: widespread alteration of the retinal pigment epithelium; inflammatory mechanisms; a minor trauma which might cause subretinal fibrosis. Surgical procedures were not performed on our patient after his ophthalmologic history and findings were considered.

Indocyanine green angiography in Biettils crystalline retinopathy

Background: To our knowledge, the indocyanine green (ICG) angiographic features of Bietti's crystalline retinopathy have been described in a single case only. We report the ICG angiographic findings in four patients with Bietti's crystalline retinopathy and compare them with the fluorescein angiographic findings.Methods: Review of the records of four patients with Bietti's crystalline retinopathy, three of whom were from a single consanguineous family. Fluorescein and ICG angiography were performed with the Heidelberg scanning laser ophthalmoscope.Results: The ICG angiographic findings varied according to the stage of the disease. In the early stages no retinal pigment epithelium (RPE) alterations or choriocapillaris loss were noted. In advanced cases there was extensive chorioretinal atrophy. Most notably, intraretinal crystals did not exhibit fluorescence/cyanescence and had no masking effect on fluorescein or ICG angiography. In all cases angiography showed hypofluorescent/hypocyanescent dots, most likely corresponding to RPE alterations adjacent to atrophic areas.Interpretation: ICG angiography does not give additional information in Bietti's crystalline retinopathy and probably is not superior to fluorescein angiography. However, it delineates the atrophic areas slightly better than does fluorescein angiography.

The differential diagnosis of crystals in the retina.

Crystalline deposits in the retina may be associated with a wide variety of systemic disorders such as oxalosis, cystinosis, hyperornithinaemia and Sjögren-Larsson syndrome. Refractile crystalline deposits may also be a manifestation of drug toxicity like the antineoplastic agent tamoxifen, the anesthetic methoxyflurane and the oral tanning agent canthaxanthine. Crystals may also occur in drug abusers who inject multiple crushed tablets of methadone or meperidine intravenously (talc retinopathy). The differential diagnosis of retinal crystals also includes primary ocular diseases like Bietti's crystalline retinopathy, calcified macular drusen, idiopathic parafoveal telangiectasis and longstanding retinal detachment. This article will review the most common causes of crystalline retinopathies, their etiologies, pathologies and clinical characteristics.

Macular hole formation in Bietti's crystalline retinopathy: A case report

Three years after the initial diagnosis, a 21-year-old healthy man with Bietti's crystalline retinopathy developed unilateral stage 4 macular hole with surrounding macular detachment. The mechanism of macular hole formation, which may or may not be a feature of Bietti's crystalline dystrophy, is not clear.

Clinical Biochemical and Pathologic Correlations in Bietti's Crystalline Dystrophy

We examined three affected members of a Chinese-American family with Bietti's crystalline retinopathy. The clinical characteristics of a 24-year-old proband are contrasted to the clinical findings of her grandmother, for whom we have 26 years of follow-up data. Lymphocytes and fibroblasts from a skin biopsy of the grandmother contained crystalline lysosomal material, which supports the diagnosis. Biochemical studies of the crystalline lysosomal material failed to identify the stored compounds but did not show them to be cholesterol or cholesterol ester. Finally, histopathologic studies performed for this condition demonstrated advanced panchorioretinal atrophy, with crystals and complex lipid inclusions seen in choroidal fibroblasts.

Crystalline Retinopathy (Bietti'S Tapetoretinal Degeneration Without Marginal Corneal Dystrophy)

Two black men, brothers 21 and 16 years old, had classic Bietti's crystalline retinopathy without marginal corneal dystrophy. The patients were asymptomatic except that the elder complained of slightly diminished visual acuity and poor night vision. This study, along with previous reports, suggested that this condition is hereditary.