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Disc edema in juvenile retinitis pigmentosa.

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A 1-year-old girl had esotropia and bilateral mottled retina. At age 2 years, she had night blindness. At age 12 years, she had poor visual acuity, nystagmus, mottled retina, and unrecordable electroretinograms OU and a whitish swollen optic disc with retinal folds OD. We believe that this patient

Posterior polar annular choroidal dystrophy association with cystoid macular edema.

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Posterior polar annular choroidal dystrophy (PPACD) is an uncommon retinal dystrophy causing nyctalopia. PPACD has been characteristically described as a foveal sparing dystrophy. We report the first case with cystoid macular edema association.

Typical electronegative electroretinography and nyctalopia as a presenting feature of systemic malignant melanoma.

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We report a unique case of a female who presented with unilateral disk edema, melanoma-associated retinopathy symptoms, and suggestive electroretinography findings preceding a diagnosis of metastatic melanoma of the pelvis. A 63-year-old female presented with complaints of seeing shimmering lights

Bilateral disc edema in retinitis pigmentosa.

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Retinitis pigmentosa (RP), one of the most common forms of hereditary retinal degeneration, is characterized by night blindness and constricted visual fields. In addition to bone spicule pigmentation, other ocular findings may include posterior subcapsular cataracts, cystoid macular edema, and

Regression of macular edema with topical brinzolamide and nepafenac alone and identification of a novel gyrate atrophy mutation.

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Gyrate atrophy is a rare metabolic autosomal recessive disorder caused by ornithine aminotransferase enzyme deficiency that leads to characteristic progressive, degenerative chorioretinal findings. Patients complain mostly of low vision, night blindness, and peripheral vision loss. Posterior

Longitudinal cohort study of patients with birdshot chorioretinopathy. I. Baseline clinical characteristics.

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OBJECTIVE To describe baseline clinical characteristics of a cohort of 80 patients with birdshot chorioretinopathy in anticipation of a longitudinal study, and to identify relationships between visual acuity, symptoms, and ophthalmic findings. METHODS Single-center cross-sectional study. METHODS A

[Retinitis pigmentosa mimicking uveitis. A case report].

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OBJECTIVE To describe a case report of a 23-year-old patient with retinitis pigmentosa (RP) misdiagnosed as uveitis. METHODS A comprehensive eye examination including automated visual field assessment, contrast sensitivity, colour vision discrimination, ultrasound examination (US), spectral domain

Bietti crystalline dystrophy: a morpho-functional evaluation.

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We report the clinical findings and macular function of a patient with Bietti crystalline dystrophy. A 39-year-old woman reported visual loss in both eyes and nyctalopia. A complete ophthalmological evaluation, retromode imaging, SD-OCT acquisition, MP1 microperimetry, and multifocal

The unusual association of inverse retinitis pigmentosa and Fuchs' heterochromic iridocyclitis.

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BACKGROUND Classic retinitis pigmentosa (RP) and other syndromic variants have previously been associated to Fuchs' heterochromic iridocyclitis (FHI). Common immunogenic and inflammatory pathways have been proposed to explain the higher incidence of this uveitic phenomenon in patients with retinal

Novel mutation in SLC4A7 gene causing autosomal recessive progressive rod-cone dystrophy

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Background: Recent advances in genetic sequencing techniques have improved the overall diagnostic yield for finding genetic causes for inherited retinal dystrophies (IRD). Rod-cone dystrophy is the most common IRD and is characterized by

Acute retinal vein occlusion and cystic fibrosis.

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UNASSIGNED The ocular manifestations of cystic fibrosis typically present with surface irritation or nyctalopia due to Vitamin A deficiency, however, there have been two previous reports of patients with cystic fibrosis that developed retinal vein occlusions. These reports hypothesized that either

Goldmann-Favre vitreoretinal degeneration.

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OBJECTIVE To describe a case of Goldmann-Favre vitreoretinal degeneration with typical clinical findings. METHODS The case report of a healthy 47-year-old woman with typical clinical findings of Goldmann-Favre vitreoretinal degeneration is presented. She had complaints of reduced visual acuity and

RP cone-rod degeneration.

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A group of patients with progressive retinal degeneration and visual field loss, who meet the basic definition of RP were investigated to better define the relationship of the findings on the ERG with clinical characteristics such as visual field size, presence or absence of scotomata or

Clinical features of Goldmann-Favre syndrome.

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A 21-year-old woman complained of progressive loss of visual acuity. She had also had night blindness since she was ten years old. At the eye examination, the vitreous was found to be degenerated in both eyes. The fundus findings were a large retinoschisis in the right macula, edema resembling

HLA-A29-positive Birdshot Chorioretinopathy in a Hispanic Patient.

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OBJECTIVE To report the first documented case of HLA-A29(+) birdshot chorioretinopathy in a Hispanic patient. METHODS A 62-year-old female from Mexico presented with a 15-year history of progressive nyctalopia, floaters, and decreasing vision. She carried multiple previous diagnoses, including

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