Optical Coherence Tomography Findings in Occult Macular Dystrophy

Brockhurst, Robert J.; Sandberg, Michael A.

doi:10.1016/j.ajo.2006.10.025

Cited by 33 publications

(21 citation statements)

References 7 publications

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“…A large number of cases of OMD have been reported 7,10,19 ; however, we did not always find the same mutations in sporadic cases or in small families, which had less than three affected members. This led us to hypothesize that several independent mutations can lead to the phenotype of OMD, that is, OMD is not a single disease caused by a specific gene mutation, but may represent different diseases with similar retinal dysfunctions.…”

contrasting

confidence: 75%

“…[1][2][3][4][5] Optical coherence tomography (OCT) showed structural changes in the outer nuclear and photoreceptor layers. [6][7][8][9][10][11] Recently, we found that dominant mutations in the RP1L1 gene were responsible for OMD. 12 The RP1L1 gene was originally cloned as a gene derived from common ancestors as a retinitis pigmentosa 1 (RP1) gene, which is responsible for 5-10% of autosomal dominant retinitis pigmentosa worldwide, on the same Chromosome 8.…”

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confidence: 99%

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Clinical Characteristics of Occult Macular Dystrophy in Family With Mutation of Rp1l1 Gene

Tsunoda

Usui

Hatase

et al. 2012

Retina

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confidence: 75%

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confidence: 99%

Clinical Characteristics of Occult Macular Dystrophy in Family With Mutation of Rp1l1 Gene

Tsunoda

Usui

Hatase

et al. 2012

Retina

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“…In OMD the degree of visual improvement could be predicted from the OCT because visual acuity was proportional to central foveal thickness. However not all OMD patients had abnormal tomography [12]. In this paper we present a 43-year-old man who was diagnosed as having OMD.…”

Section: Introductionmentioning

confidence: 93%

A 43-year-old man with reduced visual acuity and normal fundus: occult macular dystrophy—case report

Lubiński

Gosławski

Penkala³

et al. 2007

Doc Ophthalmol

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“…In all patients, focal macular electroretinography gave significantly abnormal results, making this test the gold standard for diagnosis. Several years later, after patients with similar findings were described in other parts of the world, 2 the condition was renamed occult macular dystrophy (OMD). 3 To date, there have been about 71 reported cases of OMD that often have been confused initially with more common ocular disorders, such as normal-tension glaucoma, retrobulbar optic neuritis, amblyopia, and even nonorganic visual loss.…”

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confidence: 89%

Characterizing the Phenotype and Genotype of a Family With Occult Macular Dystrophy

Chen¹,

Scholl²,

Birch³

et al. 2012

Arch Ophthalmol

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Objective To characterize the phenotype of a white patient with occult macular dystrophy (OMD) and her clinically unaffected family members and to determine whether similar mutations were present in the RP1L1 gene in this family. Occult macular dystrophy is a rare macular dystrophy with central cone dysfunction hidden behind a normal fundus appearance that has been attributed to a mutation in the retinitis pigmentosa 1–like 1 (RP1L1) gene in 4 Japanese families. Methods In this observational cross-sectional study of 1 white family with OMD, patients meeting the clinical criteria for OMD and their family members were evaluated by use of multifocal electroretinography, the Farnsworth D-15 color vision test, automated perimetry, spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence, and fundus photography. Fluorescein angiography was performed only on the proband. Members of this family were screened for genetic mutations in the RP1L1 gene. Results In the family studied, the clinically affected proband was noted to have loss of the foveal outer segments and absence of bowing of the inner segment/outer segment junction on SD-OCT scans. In addition, 1 clinically unaffected family member also demonstrated loss of the foveal photoreceptor outer segments and, therefore, decreased bowing of the inner segment/outer segment junction on SD-OCT scans. The fundus autofluorescence images of the eyes of the proband and her family members were normal. Although mutations in the RP1L1 gene have been identified in sporadic and autosomal dominant OMD pedigrees, no mutations in the RP1L1 gene were found in any of the participants. Conclusions Loss of the outer segments of foveal photoreceptors can be detected and quantified by use of SD-OCT in patients with OMD. Similar findings are present in some clinically unaffected family members and may represent subclinical manifestations of the disease. Although mutations in the RP1L1 gene have been described in several Japanese families with OMD, there were no such mutations in this white family of European descent, which suggests that inherited OMD is a genetically heterogeneous disorder.

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Optical Coherence Tomography Findings in Occult Macular Dystrophy

Cited by 33 publications

References 7 publications

Clinical Characteristics of Occult Macular Dystrophy in Family With Mutation of Rp1l1 Gene

Clinical Characteristics of Occult Macular Dystrophy in Family With Mutation of Rp1l1 Gene

A 43-year-old man with reduced visual acuity and normal fundus: occult macular dystrophy—case report

Characterizing the Phenotype and Genotype of a Family With Occult Macular Dystrophy

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