Abstract：
Purpose:The purpose of this paper was to discuss manifestations of primary mitochondrial dysfunctions and whether the retinal pigment epithelium or the photoreceptors are preferentially affected. Methods:A retrospective analysis was performed of patients with clinically and laboratory confirmed diagnoses of maternally inherited diabetes and deafness (MIDD) or Kearns-Sayre syndrome (KSS). Patients underwent full ophthalmic examination, full-field electroretinogram, and multimodal imaging studies, including short-wavelength autofluorescence, spectral domain-optical coherence tomography, and color fundus photography. Results:A total of five patients with MIDD and four patients with KSS were evaluated at two tertiary referral centers. Mean age at initial evaluation was 50.3 years old. Nascent outer retinal tubulations corresponding with faint foci of autofluorescence were observed in two patients with MIDD. Characteristic features of this cohort included a foveal sparing phenotype observed in 13 of 18 eyes (72%), global absence of intraretinal pigment migration, and preserved retinal function on full-field electroretinogram testing in 12 of 16 eyes (75%). One patient diagnosed with MIDD presented with an unusual pattern of atrophy surrounding the parapapillary region and one patient with KSS presented with an atypical choroideremia-like phenotype. Conclusions:MIDD and KSS are phenotypically heterogeneous disorders. Several features of disease suggest that primary mitochondrial dysfunction may first affect the retinal pigment epithelium followed by secondary photoreceptor loss. Similarities between primary mitochondrial degenerations and retinal disorders, such as age-related macular degeneration may suggest a primary role of mitochondria in the pathogenesis of these oligogenic disorders.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Oh JK,Lima de Carvalho JR Jr,Nuzbrokh Y,Ryu J,Chemudupati T,Mahajan VB,Sparrow JR,Tsang SHdoi
10.1167/iovs.61.12.12subject
Has Abstractpub_date
2020-10-01 00:00:00pages
12issue
12eissn
0146-0404issn
1552-5783pii
2770906journal_volume
61pub_type
杂志文章abstract：Purpose:The purpose of this study was to investigate the impact of genetic deletion of NOS3 in CAV1-/- mice on aqueous humor outflow function using a mouse genetic double knockout model (DKO, NOS3-/- CAV1-/-). Methods:IOP was measured in DKO, NOS3 KO, CAV1 KO, and wild-type (WT) mice by rebound tonometry. Outflow faci...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
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更新日期：2017-10-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
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doi：
更新日期：1991-07-01 00:00:00
abstract：PURPOSE:Dietary deficiency in the retinoid precursors of the visual pigment chromophore 11-cis retinal eventually results in selective degeneration of the photoreceptor cells of the vertebrate retina. An early effect of retinoid deficiency is depletion of chromophore from the photoreceptor outer segments. Experiments w...
journal_title：Investigative ophthalmology & visual science
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doi：
更新日期：1993-05-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
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doi：10.1167/iovs.09-3669
更新日期：2009-11-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1991-08-01 00:00:00
abstract：PURPOSE:The majority of patients with autosomal dominant optic atrophy (DOA) harbor pathogenic OPA1 mutations and certain missense mutations, mostly within the GTPase domain, have recently been shown to cause multiple mitochondrial DNA (mtDNA) deletions in skeletal muscle. This raises the possibility that the optic neu...
journal_title：Investigative ophthalmology & visual science
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doi：10.1167/iovs.09-3634
更新日期：2009-10-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1994-02-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.13-13510
更新日期：2014-05-13 00:00:00
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journal_title：Investigative ophthalmology & visual science
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更新日期：2011-12-16 00:00:00
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journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1977-11-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
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doi：
更新日期：1990-04-01 00:00:00
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doi：
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更新日期：2016-07-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
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doi：
更新日期：1988-05-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
pub_type： 临床试验,杂志文章,随机对照试验
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journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
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doi：
更新日期：1985-04-01 00:00:00
abstract：:To investigate the role of cellular immunodeficiency in recurrent toxoplasmic retinochoroiditis, six Cynomolgus monkeys (Macaca fascicularis) with healed toxoplasmic lesions of the retina were immunosuppressed by total lymphoid irradiation. Three months prior to irradiation 30,000 Toxoplasma gondii organisms of the Be...
journal_title：Investigative ophthalmology & visual science
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doi：
更新日期：1988-06-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
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更新日期：1986-10-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
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doi：
更新日期：1999-10-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
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