A pedigree of choroideremia

T. Tokushima; M. Horiguchi

A pedigree of choroideremia

Research output: Contribution to journal › Article › peer-review

Abstract

A 25-year-old male presented with visual field defect in the right eye. The corrected visual acuity was 0.7 right and 1.2 left. Ring scotoma was detected by perimetry in both eyes. Flash electroretinogram was nonrecordable in both eyes. Ophthalmoscopy showed an almost absence of the choroid excepting an area of intact choroid in the macula in both eyes, leading to the diagnosis of choroideremia. Serological and molecular biological examinations were negative. His 49-year-old mother showed depigmented spots in the posterior fundus and pigment clumps in the peripheral retina bilaterally. She was diagnosed as carrier of choroideremia.

Original language	English
Pages (from-to)	1665-1668
Number of pages	4
Journal	Japanese Journal of Clinical Ophthalmology
Volume	50
Issue number	10
Publication status	Published - 01-01-1996
Externally published	Yes

All Science Journal Classification (ASJC) codes

Ophthalmology

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title = "A pedigree of choroideremia",

abstract = "A 25-year-old male presented with visual field defect in the right eye. The corrected visual acuity was 0.7 right and 1.2 left. Ring scotoma was detected by perimetry in both eyes. Flash electroretinogram was nonrecordable in both eyes. Ophthalmoscopy showed an almost absence of the choroid excepting an area of intact choroid in the macula in both eyes, leading to the diagnosis of choroideremia. Serological and molecular biological examinations were negative. His 49-year-old mother showed depigmented spots in the posterior fundus and pigment clumps in the peripheral retina bilaterally. She was diagnosed as carrier of choroideremia.",

author = "T. Tokushima and M. Horiguchi",

year = "1996",

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language = "English",

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pages = "1665--1668",

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T1 - A pedigree of choroideremia

AU - Tokushima, T.

AU - Horiguchi, M.

PY - 1996/1/1

Y1 - 1996/1/1

N2 - A 25-year-old male presented with visual field defect in the right eye. The corrected visual acuity was 0.7 right and 1.2 left. Ring scotoma was detected by perimetry in both eyes. Flash electroretinogram was nonrecordable in both eyes. Ophthalmoscopy showed an almost absence of the choroid excepting an area of intact choroid in the macula in both eyes, leading to the diagnosis of choroideremia. Serological and molecular biological examinations were negative. His 49-year-old mother showed depigmented spots in the posterior fundus and pigment clumps in the peripheral retina bilaterally. She was diagnosed as carrier of choroideremia.

AB - A 25-year-old male presented with visual field defect in the right eye. The corrected visual acuity was 0.7 right and 1.2 left. Ring scotoma was detected by perimetry in both eyes. Flash electroretinogram was nonrecordable in both eyes. Ophthalmoscopy showed an almost absence of the choroid excepting an area of intact choroid in the macula in both eyes, leading to the diagnosis of choroideremia. Serological and molecular biological examinations were negative. His 49-year-old mother showed depigmented spots in the posterior fundus and pigment clumps in the peripheral retina bilaterally. She was diagnosed as carrier of choroideremia.

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JO - Japanese Journal of Clinical Ophthalmology

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