Oguchi disease masked by retinitis pigmentosa.

Summary of "Oguchi disease masked by retinitis pigmentosa."

The purpose of this study was to report a patient with Oguchi disease whose ophthalmological characteristics were masked by retinitis pigmentosa (RP). The method used in this study was case report. A 53-year-old man had a progressive decrease in his visual acuity and was diagnosed with RP because of night blindness, fundoscopic findings, ring scotoma, and extinguished single-flash electroretinograms (ERGs). However, a faint golden-yellowish reflex of the retina prompted us to make a more detailed examination of the fundus after a long period of dark adaptation, ERGs, and genetic analysis. Examinations showed the Mizuo-Nakamura phenomenon, relative intact photopic ERGs, and a SAG mutation, and the patient was diagnosed with RP associated with Oguchi disease. When RP accompanies Oguchi disease, the clinical characteristics of Oguchi disease might be masked. In such a situation, the correct diagnosis is difficult. However, careful analysis of clinical findings will suggest Oguchi disease, which can be confirmed by molecular genetics.


Ideta Eye Hospital, Kumamoto, Japan.

Journal Details

This article was published in the following journal.

Name: Documenta ophthalmologica. Advances in ophthalmology
ISSN: 1573-2622


DeepDyve research library

PubMed Articles [15872 Associated PubMed Articles listed on BioPortfolio]

Increased Prevalence of Flammer Syndrome in Patients with Retinitis Pigmentosa.

Background: "Retinitis pigmentosa" refers to a group of degenerative eye diseases with a genetic background. Flammer syndrome encompasses a set of symptoms and signs, mainly but not exclusively relate...

Emotional Health of People with Visual Impairment Caused by Retinitis Pigmentosa.

To understand the emotional difficulties associated with living with the ocular condition Retinitis Pigmentosa, and to examine the functioning of a self-report instrument used to assess this construct...

The Role of the Endothelin System in the Vascular Dysregulation Involved in Retinitis Pigmentosa.

Retinitis pigmentosa is a clinical and genetic group of inherited retinal disorders characterized by alterations of photoreceptors and retinal pigment epithelium leading to a progressive concentric vi...

Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families.

Retinitis pigmentosa (RP) is the most common inherited retinal disease with high genetic heterogeneity and variable phenotypes. Characteristic symptoms include night blindness and progressive loss of ...

Structure-Function Modeling of Optical Coherence Tomography and Standard Automated Perimetry in the Retina of Patients with Autosomal Dominant Retinitis Pigmentosa.

To assess relationships between structural and functional biomarkers, including new topographic measures of visual field sensitivity, in patients with autosomal dominant retinitis pigmentosa.

Clinical Trials [1977 Associated Clinical Trials listed on BioPortfolio]

Safety Study in Retinal Transplantation for Retinitis Pigmentosa.

The long-term goal is to show that retinal transplantation can help to prevent blindness and to restore eyesight in patients with the inherited disease retinitis pigmentosa.

Randomized Clinical Trial for Retinitis Pigmentosa

The purpose of this trial is to determine whether a nutritional supplement in addition to vitamin A will slow the course of retinitis pigmentosa.

Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa

To determine whether supplements of vitamin A or vitamin E alone or in combination affect the course of retinitis pigmentosa.

Randomized Trial for Retinitis Pigmentosa

The purpose of this trial is to determine whether a nutritional supplement in addition to vitamin A will slow the course of retinitis pigmentosa.

Slowing the Degenerative Process, Long Lasting Effect of Hyperbaric Oxygen Therapy in Retinitis Pigmentosa

Our aim was to assess the role and usefulness of Hyperbaric oxygen therapy in a long lasting period, assessing its efficacy on rescuing retinal photoreceptors and preserving visual functio...

Medical and Biotech [MESH] Definitions

Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable.

Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene.

Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.

A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)

An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES.

Quick Search

DeepDyve research library

Searches Linking to this Article