Search results (232 results)

Apr 28 2025 by Maria de los Angeles Cabrera Zuñiga

Fundus photograph of a 48-year-old man with choroideremia. Whole-exome sequencing revealed the variant NM_000390.4:c.1336del (p.Arg446Valfs*12) in the CHM gene.

Photographer: Maria de los Angeles Cabrera Zuñiga. Hospital Militar de Especialidades Oftalmológicas.

Imaging device: Optos

Condition/keywords: CHM gene, choroideremia, x linked recessive

Jan 23 2025 by Prashant K Bawankule, M.S.

A young male of 25 years, with progressive loss of vision with suspected CNVM. FFA showed 360 degree shutdown with blocked fluorescence in macular region.

Photographer: Prashant Bawankule, Sarakshi Netralaya, Nagpur, Maharashtra , India

Imaging device: Mirante ( by Nidek)

Condition/keywords: Montage of FFA in a case of choroderemia

Oct 25 2024 by Poornachandra B, MS, FVRS

This is a multi color image of an 82 year old male with Choroideremia. Preserved island of macula with well defined borders.

Photographer: Mr Dhikshith

Imaging device: Spectralis

Condition/keywords: choroideremia, inherited retinal disease

May 8 2024 by KANWALJEET HARJOT MADAN, M.S. (Ophthalmology); FAICO (Vitreous - Retina)

These are the fundus pics of a 28 year young male who presented with history of night blindness. Fundus examintaion revealed presence of Choroideremia. There is diffuse pigment clumping followed by atrophy of retinal pigment epithelium, photoreceptors and choriocapillaris with visible sclera and choroidal vessels in this condition. Atrophy progresses centripetally and the fovea is the last to become affected.

Photographer: Dr. Kanwaljeet Harjot Madan

Imaging device: Zeiss Clarus

Condition/keywords: choriocapillaris, choroideremia, nightblindness

Jul 27 2023 by Bruno Ribeiro e Silva

Fluorescein angiography of a 45 year-old man , non-miopic, with progressive visual loss . There are areas of hypofluorescence due to choriocapilar atrophy sparing the fovea

Condition/keywords: choroideremia

Jul 27 2023 by Bruno Ribeiro e Silva

Fluorescein angiography of a 45 year-old man , non-miopic, with progressive visual loss . There are areas of hypofluorescence due to choriocapilar atrophy sparing the fovea

Condition/keywords: choroideremia

Apr 4 2023 by Ian C Han, MD

Widefield color fundus photograph of a teenage male with molecularly-confirmed choroideremia shows lobular areas of chorioretinal atrophy with sparing of the macula.

Photographer: Nicole Radunzel, University of Iowa, Department of Ophthalmology and Visual Sciences

Condition/keywords: choroid, choroideremia, dystrophy, retina

Sep 21 2022 by Zach Seim

Ultra-widefield fundus photo of a 74 year old male presenting with severe vision loss beginning at age 55. Patient sought a second opinion with our office and was diagnosed with Choroideremia. Patient denies hearing loss, heart problems, balance issues, polydactyly, kidney problems, and dental problems. Patient reports that nobody in the family had blindness. Choroideremia is an X-linked chorioretinal dystrophy characterized by the diffuse, progressive degeneration of the retinal pigment epithelium (RPE), photoreceptors and choriocapillaris. It is caused by a mutation in the CHM gene.

Photographer: Zach Seim

Imaging device: Optos California

Condition/keywords: choroideremia, hereditary choroidal atrophy, hereditary retinal dystrophy, left eye, light perception, low vision, Optos, pseudocolor, ultra-wide field imaging

Sep 21 2022 by Zach Seim

Ultra-widefield fundus photo of a 74 year old male presenting with severe vision loss beginning at age 55. Patient sought a second opinion with our office and was diagnosed with Choroideremia. Patient denies hearing loss, heart problems, balance issues, polydactyly, kidney problems, and dental problems. Patient reports that nobody in the family had blindness. Choroideremia is an X-linked chorioretinal dystrophy characterized by the diffuse, progressive degeneration of the retinal pigment epithelium (RPE), photoreceptors and choriocapillaris. It is caused by a mutation in the CHM gene.

Photographer: Zach Seim

Imaging device: Optos California

Condition/keywords: choroideremia, hereditary choroidal atrophy, hereditary retinal dystrophy, Optos, pseudocolor, ultra-wide field imaging

Jul 12 2021 by Stefanie Palmer

Fluorescein angiography of a 58-year-old female.

Photographer: Stefanie Palmer, CRA

Condition/keywords: choroideremia, retina

Feb 26 2019 by Lancaster Course in Ophthalmology

Choroideremia. There is total loss of the choroid and retinal pigment epithelium except for a small area around the optic disc. Sections through the degen­erated area show absence of the choroid and retinal pigment epithelium, and the inner nuclear layer of the retina is in juxtaposition to the sclera (lower view). (Courtesy of Clement McCulloch, M.D. )

Condition/keywords: choroideremia, retinal pigment epithelium, sclera

Oct 31 2018 by Dhaivat Shah

50-year-old male came in with complaint of daytime vision loss for a year and nighttime vision loss for more than 20 years, gradually increasing day by day. Fundus showed paving-stone like areas of atrophy of the RPE involving the macula which coalesces to form a characteristic scalloped border at the junction of normal and abnormal RPE. Gyrate atrophy is an autosomal recessive dystrophy caused by tenfold elevations of plasma ornithine, which is toxic to the RPE and choroid. Patients with gyrate atrophy have hyperpigmented fundi, with lobular loss of the RPE and choroid, normally sparing the fovea. The finding of generalized hyperpigmentation of the remaining RPE helps to clinically distinguish gyrate atrophy from choroideremia. Affected patients usually develop night blindness during the first decade of life and experience progressive loss of visual field and visual acuity later in the disease course. Early diagnosis is crucial because treatment in form of Arginine free diet and oral pyridoxine helps in slowing the progression of disease.

Imaging device: Optos

Condition/keywords: fundus autofluorescence (FAF), gyrate atrophy

Oct 25 2018 by INDU V P, MBBS, MS

Fundus photograph of a 26-year-old carrier female whose father has choroideremia. Choroideremia is a rare genetic disease with x-linked recessive inheritance. Affected males have nightblindness with progressive loss of peripheral vision. Carrier females are asymptomatic but may have patchy depigmentation of retinal pigment epithelium

Condition/keywords: choroideremia carrier, x linked recessive

Oct 25 2018 by INDU V P, MBBS, MS

Fundus photograph of a 26-year-old carrier female whose father has choroideremia. Choroideremia is a rare genetic disease with x-linked recessive inheritance. Affected males have nightblindness with progressive loss of peripheral vision. Carrier females are asymptomatic but may have patchy depigmentation of retinal pigment epithelium

Condition/keywords: choroideremia carrier, x linked recessive

May 8 2018 by Audina M. Berrocal, MD FASRS

Choroideremia

Imaging device: OPTOS

Condition/keywords: choroideremia

Mar 3 2017 by Nichole Lewis

66-year-old male with diffuse retinochoroidal atrophy most likely choroideremia.

Photographer: Nichole Lewis

Condition/keywords: choroideremia

Feb 29 2016 by Andrea Arriola-Lopez, MD MSc

35-year-old man VA 20/50 OU IOP 12mmHg.

Photographer: Andrea Elizabeth Arriola-LopezMD, MSc

Imaging device: OPTOS Dakota

Condition/keywords: choroideremia, retinal pigment epithelium

Dec 17 2014 by Howard Schatz, MD

Choroideremia.

Condition/keywords: choroideremia

Dec 17 2014 by Howard Schatz, MD

Choroideremia.

Condition/keywords: choroideremia

Dec 17 2014 by Howard Schatz, MD

Choroideremia.

Condition/keywords: choroideremia

Dec 17 2014 by Howard Schatz, MD

Choroideremia.

Condition/keywords: choroideremia

Dec 17 2014 by Howard Schatz, MD

Choroideremia.

Condition/keywords: choroideremia

Dec 17 2014 by Howard Schatz, MD

Choroideremia.

Condition/keywords: choroideremia

Dec 17 2014 by Howard Schatz, MD

59-year-old female. Choroideremia. 20/15 OU.

Condition/keywords: choroideremia

Dec 17 2014 by Howard Schatz, MD

20-year-old white male. Choroideremia.

Condition/keywords: choroideremia