Fundus Autofluorescence in Maternally Inherited Diabetes and Deafness: The Gold Standard for Monitoring Maculopathy?

Ovens, Christopher; Ahmad, Kate; Fraser, Clare L.

doi:10.1080/01658107.2019.1653935

Cited by 3 publications

(2 citation statements)

References 11 publications

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“…Other features of mitochondrial disease may manifest (e.g., myopathy, gastrointestinal disease, short stature, etc.). MIDD has an ocular phenotype recognizable by parafoveal macular atrophy and an absence of classic DR findings in the context of type 1 diabetes and congenital hearing loss [ 93 , 94 ].…”

Section: Resultsmentioning

confidence: 99%

Diabetic Disease of the Eye in Canada: Consensus Statements from a Retina Specialist Working Group

Omar,

Williams,

Whelan

et al. 2024

Ophthalmol Ther

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Despite advances in systemic care, diabetic disease of the eye (DDE) remains the leading cause of blindness worldwide. There is a critical gap of up-to-date, evidence-based guidance for ophthalmologists in Canada that includes evidence from recent randomized controlled trials. Previous guidance has not always given special consideration to applying treatments and managing DDE in the context of the healthcare system. This consensus statement aims to assist practitioners in the field by providing a spectrum of acceptable opinions on DDE treatment and management from recognized experts in the field. In compiling evidence and generating consensus, a working group of retinal specialists in Canada addressed clinical questions surrounding the four themes of disease, patient, management, and collaboration. The working group reviewed literature representing the highest level of evidence on DDE and shared their opinions on topics surrounding the epidemiology and pathophysiology of diabetic retinopathy and diabetic macular edema; diagnosis and monitoring; considerations around diabetes medication use; strategic considerations for management given systemic comorbidities, ocular comorbidities, and pregnancy; treatment goals and modalities for diabetic macular edema, non-proliferative and proliferative diabetic retinopathy, and retinal detachment; and interdisciplinary collaboration. Ultimately, this work highlighted that the retinal examination in DDE not only informs the treating ophthalmologist but can serve as a global index for disease progression across many tissues of the body. It highlighted further that DDE can be treated regardless of diabetic control, that a systemic approach to patient care will result in the best health outcomes, and prevention of visual complications requires a multidisciplinary management approach. Ophthalmologists must tailor their clinical approach to the needs and circumstances of individual patients and work within the realities of their healthcare setting. Supplementary Information The online version contains supplementary material available at 10.1007/s40123-024-00923-0.

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Section: Resultsmentioning

confidence: 99%

Diabetic Disease of the Eye in Canada: Consensus Statements from a Retina Specialist Working Group

Omar,

Williams,

Whelan

et al. 2024

Ophthalmol Ther

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“…A unique feature of the macular pattern dystrophy in MIDD, that may help to distinguish it from other maculopathies, is the finding of occult RPE disruption seen on autofluorescence imaging as a diffuse speckled pattern, extending beyond the macular abnormalities seen on ophthalmoscopy [ 38 , 39 ]. Autofluorescence imaging has been suggested as a useful marker of disease progression [ 40 , 41 ]. As the disease progresses, areas of speckled pigments on autofluorescence evolve into areas of atrophy, with relative sparing of the fovea until the advanced stages of the disease.…”

Section: Retinal Manifestationsmentioning

confidence: 99%

Mitochondria and the eye—manifestations of mitochondrial diseases and their management

Chen

Harvey

Gilhooley

et al. 2023

Eye

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Historically, distinct mitochondrial syndromes were recognised clinically by their ocular features. Due to their predilection for metabolically active tissue, mitochondrial diseases frequently involve the eye, resulting in a range of ophthalmic manifestations including progressive external ophthalmoplegia, retinopathy and optic neuropathy, as well as deficiencies of the retrochiasmal visual pathway. With the wider availability of genetic testing in clinical practice, it is now recognised that genotype-phenotype correlations in mitochondrial diseases can be imprecise: many classic syndromes can be associated with multiple genes and genetic variants, and the same genetic variant can have multiple clinical presentations, including subclinical ophthalmic manifestations in individuals who are otherwise asymptomatic. Previously considered rare diseases with no effective treatments, considerable progress has been made in our understanding of mitochondrial diseases with new therapies emerging, in particular, gene therapy for inherited optic neuropathies.

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Subretinal autofluorescent deposits: A review and proposal for clinical classification

Cohen

Chowers

Nghiem-Buffet

et al. 2023

Survey of Ophthalmology

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Fundus Autofluorescence in Maternally Inherited Diabetes and Deafness: The Gold Standard for Monitoring Maculopathy?

Cited by 3 publications

References 11 publications

Diabetic Disease of the Eye in Canada: Consensus Statements from a Retina Specialist Working Group

Diabetic Disease of the Eye in Canada: Consensus Statements from a Retina Specialist Working Group

Mitochondria and the eye—manifestations of mitochondrial diseases and their management

Subretinal autofluorescent deposits: A review and proposal for clinical classification

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