Fundus Appearance of Choroideremia Using Optical Coherence Tomograpy

Katz, Bradley J.; Yang, Zhenglin; Payne, Marielle; Yin, None Lin; Zhao, Yu; Pearson, Erik; Duan, Shan; Kamaya, Shin; Karan, Goutam; Zhang, Kang

doi:10.1007/0-387-32442-9_9

Cited by 6 publications

(4 citation statements)

References 5 publications

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“…Outer retinal tubulations have also been noted in a number of other inherited retinal degenerations, [67][68][69] but only Bietti crystalline retinopathy seems to show ORTs frequently. 70,71 Other studies have reported ORTs in CHM, 7,37,51,69,72 but the high frequency of this pathologic finding in our cohort leads to the suggestion that ORTs may be an expected part of the CHM phenotype. The presence of ORTs in patients at early ages suggests the effect is not simply a late-stage abnormality.…”

Section: Retinal Structure Following the Effects Of Rep1 Mutationscontrasting

confidence: 45%

Visual Function and Central Retinal Structure in Choroideremia

Hèon

Alabduljalil

McGuigan

et al. 2016

Invest. Ophthalmol. Vis. Sci.

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Section: Retinal Structure Following the Effects Of Rep1 Mutationscontrasting

confidence: 45%

Visual Function and Central Retinal Structure in Choroideremia

Hèon

Alabduljalil

McGuigan

et al. 2016

Invest. Ophthalmol. Vis. Sci.

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“…In the early phase, the fundus exhibits peripheral pigmentary clumping at the level of the RPE that gradually progresses into obvious regions of chorioretinal atrophy with scleral exposure and visible choroidal vessels [6,8]. These degenerative courses start at the equator and in the mid-peripheral fundus following a centripetal distribution approaching the anterior retina, posterior pole, and the ora serrata [2,6,11]. Comparable atrophic changes are also observed in the peripapillary area with some patients keeping a central region of reasonably preserved retinal tissue even in advanced phases [16].…”

Section: Clinical Symptoms and Signsmentioning

confidence: 99%

“…The central macular pigment, function, and anatomy of the central macula are characteristically maintained until very late in the course of the degeneration [2] and can be illustrated with fundus autoflourescence imaging [1]. At the early stage of the disease, reduced visual acuity is often demonstrated to be secondary to the development of cystoid macular edema, which can be observed on optical coherence tomography (OCT) examination [18].…”

Section: Clinical Symptoms and Signsmentioning

confidence: 99%

“…Choroideremia, which is caused by mutations in the CHM gene which encodes Rab escort protein 1 (REP1), is an X-linked recessive (XLR) inherited, bilateral progressive chorioretinal dystrophy/degeneration leading to blindness by late adulthood [1][2][3][4][5][6][7]. It manifests as a progressive degenerative disorder of the photoreceptor layer, retinal pigment epithelium (RPE), and choroid [1,6,8].…”

Section: Introductionmentioning

confidence: 99%

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Choroideremia – A clinical insight and differential diagnosis

Nouraeinejad¹

2022

Oftalmol Zh

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Choroideremia is an X-linked recessive inherited, bilateral progressive chorioretinal dystrophy/degeneration leading to blindness by late adulthood. However, it can be confused occasionally with other conditions, especially retinitis pigmentosa due to their shared clinical manifestations. Since the management and patients' counseling differ between those conditions listed in the differential diagnosis, it is important for clinicians to come to the right diagnosis. This article is trying to make a differential diagnosis between choroideremia and other conditions based on the current knowledge of these disorders.

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Natural History of the Central Structural Abnormalities in Choroideremia

et al. 2017

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Purpose To describe in detail the central retinal structure of a large group of patients with Choroideremia (CHM). Design prospective, cross-sectional, descriptive study. Subjects Patients (n=97, age 6-71 years) with CHM and subjects with normal vision (n=44; ages 10-50 years) were included. Methods Subjects were examined with spectral domain optical coherence tomography (SD-OCT) and near infrared reflectance imaging. Visual acuity (VA) was measured during their encounter or obtained from recent ophthalmic examinations. Visual thresholds were measured in a subset of patients (n=24) with automated static perimetry within the central regions (±15°) examined with SD-OCT. Main outcome measures VA and visual thresholds, total, inner and outer nuclear layer (ONL) thicknesses, and the horizontal extent of the ONL and of the photoreceptor outer segment (POS) interdigitation zone. Results Earliest abnormalities in regions with normally appearing RPE were the loss of the POS and EZ zone associated with rod dysfunction. Transition zones (TZs) from relatively preserved retina to severe ONL thinning and inner retinal thickening moved centripetally with age. Most patients (88%) retained VAs better than 20/40 until their fifth decade of life. VA decline coincided with migration of the TZ near the foveal center. There were outer retinal tubulations in degenerated, non-atrophic retina in the majority (69%) of patients. In general, retinal pigment epithelium (RPE) abnormalities paralleled photoreceptor degeneration, although there were regions with detectable but abnormally thin ONL co-localizing with severe RPE depigmentation and choroidal thinning. Conclusions Abnormalities of the POS and rod dysfunction are the earliest central abnormalities observed in CHM. Foveal function is relatively preserved until late disease. TZ migration to the foveal center with foveal thinning and structural disorganization heralded central VA loss. The relationships established may help outline the eligibility criteria and outcome measures for clinical trials for CHM.

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Fundus Appearance of Choroideremia Using Optical Coherence Tomograpy

Cited by 6 publications

References 5 publications

Visual Function and Central Retinal Structure in Choroideremia

Visual Function and Central Retinal Structure in Choroideremia

Choroideremia – A clinical insight and differential diagnosis

Natural History of the Central Structural Abnormalities in Choroideremia

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