Macular cysts in retinal dystrophy

Ganesh, Anuradha; Stroh, Eliza; Manayath, George J; Al-Zuhaibi, Sana; Levin, Alex V.

doi:10.1097/icu.0b013e328349229e

Cited by 38 publications

(23 citation statements)

References 62 publications

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“…Interestingly, no macular hole was detected in his sibling who harbored the same mutations. As Ganesh et al[32] suggested previously, the macular cysts found in this study should be termed as non- cystoid macular edema (non-CME) macular cysts. It differs from CME in patients with retinitis pigmentosa reported previously, since SD-OCT disclosed the presence of cystoid lesions in the macula, but there was no dye accumulation on the FFA, suggesting that vascular leakage plays a minor role in this condition [32].…”

Section: Discussionsupporting

confidence: 53%

“…As Ganesh et al[32] suggested previously, the macular cysts found in this study should be termed as non- cystoid macular edema (non-CME) macular cysts. It differs from CME in patients with retinitis pigmentosa reported previously, since SD-OCT disclosed the presence of cystoid lesions in the macula, but there was no dye accumulation on the FFA, suggesting that vascular leakage plays a minor role in this condition [32]. This is a feature in other reported cases with inherited retinal degenerative diseases, such as juvenile X-linked retinoschisis (XLRS) and NR2E3 retinopathy [32].…”

Section: Discussionsupporting

confidence: 53%

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Molecular Analysis and Phenotypic Study in 14 Chinese Families with Bietti Crystalline Dystrophy

et al. 2014

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PurposeTo investigate the clinical features and cytochrome P450 family 4 subfamily V polypeptide 2 (CYP4V2) gene mutations in 14 Chinese families with Bietti crystalline dystrophy (BCD).MethodsSeventeen patients from 14 unrelated Chinese families with BCD were recruited for complete clinical ophthalmic examination and genetic study. The 11 exons of CYP4V2 were amplified from genomic DNA of all patients and their family members by polymerase chain reaction (PCR) and then sequenced. Exons of TIMP3 were also sequenced in BCD patient associated with choroidal neovascularization (CNV). One hundred and seventy unrelated healthy Chinese subjects were screened for mutations in CYP4V2.ResultsAll 17 patients with BCD had mutations in CYP4V2; one of these mutations was novel (c.219T>A, p.F73L) and four other mutations had been reported. The p.F73L mutation was a commonly detected mutation in our study (seven out of 34 alleles), either in the homozygous state or in the heterozygous state. Among the patients, considerable phenotypic variability was detected, both within and between families. Screening of TIMP3 did not find any mutation in the BCD patient associated with CNV.ConclusionThe novel CYP4V2 c.219T>A (p.F73L) mutation may be another recurrent mutation in Chinese patients with BCD. Our study expands the mutation spectrum of CYP4V2 and characterizes novel genotype–phenotype associations in Chinese patients with BCD.

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Section: Discussionsupporting

confidence: 53%

Section: Discussionsupporting

confidence: 53%

Molecular Analysis and Phenotypic Study in 14 Chinese Families with Bietti Crystalline Dystrophy

et al. 2014

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“…Topical carbonic anhydrase inhibitors and intravitreal corticosteroids are mainstay treatments for cystic changes in retinal dystrophies. [20] Several studies have demonstrated that patients with retinitis pigmentosa and cystoid macular edema with multiple anti-retinal antibody bands responded well to immunosuppression, resulting in visual gain. [21, 22] Antiretinal antibodies have never been previously described in patients with the m.3243A>G point mutation.…”

Section: Discussionmentioning

confidence: 99%

Cystoid macular changes on optical coherence tomography in a patient with maternally inherited diabetes and deafness (MIDD)-associated macular dystrophy

Qian

Branham

Khan

et al. 2017

Ophthalmic Genetics

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The clinical presentation and optical coherence tomography findings in a patient with maternally inherited diabetes and deafness (MIDD) are presented to highlight the presence of macular cystoid spaces in some patients with this disease. Typically, patients with MIDD demonstrate progression of a pigmentary maculopathy into areas of geographic macular atrophy. At the time of initial visit, the 30-year-old patient had large macular cystoid changes in addition to retinal pigmentary changes in both eyes. The cystoid changes responded to treatment with systemic immunosuppression and a topical carbonic anhydrase inhibitor (CAI), recurred when treated with topical CAI monotherapy, and finally resolved after an intravitreal triamcinolone acetonide injection. Over time, the retinal atrophy continued to progress, but the macular cysts did not recur. The patient received systemic immunosuppression for renal transplantation due to renal failure resulting from focal glomerulosclerosis. There was no evidence of diabetic retinopathy at any time during the five-and-a-half-year follow-up, and the patient retained good visual acuity in both eyes.

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“…11,12 The presence of hyperreflective borders surrounding ORT and the localization within the outer retina can help distinguish ORT structures from CME and enable sparing of treatment in certain cases.…”

Section: Discussionmentioning

confidence: 99%

Outer Retinal Tubulation in Degenerative Retinal Disorders

Goldberg

Greenberg

Laud

et al. 2013

Retina

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Objective To demonstrate outer retinal tubulation (ORT) in various degenerative retinal disorders. Methods This was a retrospective review of the multimodal imaging of 29 eyes of 15 patients with various retinal dystrophies and inflammatory maculopathies manifesting ORT. The morphologic features of ORT and its evolution over time were analyzed using spectral-domain optical coherence tomography (SD-OCT) data. Results Outer retinal tubulation was identified as round or ovoid structures with hyper-reflective borders in pattern dystrophy (6 eyes), acute zonal occult outer retinopathy (5 eyes), retinitis pigmentosa (4 eyes), Stargardt disease (4 eyes), gyrate atrophy (2 eyes), choroideremia (2 eyes), and various other degenerative conditions. These structures appeared to develop from the invagination of photoreceptors at the junction of intact and atrophic outer retina. During follow-up, the number and distribution of ORT largely remained stable. As zones of atrophy enlarged, the frequency of ORT appeared to increase. The ORT structures were found in fewer than 10% of patients with retinitis pigmentosa, Stargardt, or pattern dystrophy. Conclusion Outer retinal tubulation is found in various degenerative retinal disorders that share in common damage to the outer retina and/or retinal pigment epithelium. The presence of ORT may be in an indicator of underlying disease stage and severity.

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Macular cysts in retinal dystrophy

Abstract: Non-CME macular cysts in retinal dystrophies can be differentiated from CME by a combination of clinical examination, IVFA, and molecular genetic testing to identify causative phenotype. Carbonic anhydrase inhibitors may be effective in promoting resolution.

Cited by 38 publications

References 62 publications

Molecular Analysis and Phenotypic Study in 14 Chinese Families with Bietti Crystalline Dystrophy

Molecular Analysis and Phenotypic Study in 14 Chinese Families with Bietti Crystalline Dystrophy

Cystoid macular changes on optical coherence tomography in a patient with maternally inherited diabetes and deafness (MIDD)-associated macular dystrophy

Outer Retinal Tubulation in Degenerative Retinal Disorders

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