Search results (366 results)

Feb 5 2025 by Kimberly Wakester

Optomap RGB and AF photograph of an 37-year-old woman with multifocal pattern dystrophy in both eyes. Previously believed to be Stargardts, but genetic testing returned positive for PRPH2 mutation. Likely Multifocal Pattern Dystrophy given phenotypical appearance of SGD. There is stable NVE in the left eye. Will continue to monitor both eyes and consider treatment with PRP laser if needed for NVE in the left eye.

Photographer: Kimberly Wakester, COA

Imaging device: Optos California

Condition/keywords: multifocal pattern dystrophy, NVE, PRPH2 Positive

Feb 5 2025 by Kimberly Wakester

Optomap RGB and AF photograph of an 37-year-old woman with multifocal pattern dystrophy in both eyes. Previously believed to be Stargardts, but genetic testing returned positive for PRPH2 mutation. Likely Multifocal Pattern Dystrophy given phenotypical appearance of SGD. There is stable NVE in the left eye. Will continue to monitor both eyes and consider treatment with PRP laser if needed for NVE in the left eye.

Photographer: Kimberly Wakester, COA

Imaging device: Optos California

Condition/keywords: multifocal pattern dystrophy, NVE, PRPH2 Positive

Feb 5 2025 by Kimberly Wakester

Optomap RGB and AF photograph of an 37-year-old woman with multifocal pattern dystrophy in both eyes. Previously believed to be Stargardts, but genetic testing returned positive for PRPH2 mutation. Likely Multifocal Pattern Dystrophy given phenotypical appearance of SGD. There is stable NVE in the left eye. Will continue to monitor both eyes and consider treatment with PRP laser if needed for NVE in the left eye.

Photographer: Kimberly Wakester, COA

Imaging device: Optos California

Condition/keywords: multifocal pattern dystrophy, NVE, PRPH2 Positive

Jan 7 2025 by Drew Mitchell

HD 1 line 100x Scan with tracking engaged of Pattern Dystrophy.

Photographer: Drew Mitchel, OCT-C

Imaging device: Zeiss 6000

Condition/keywords: pattern dystrophy, vitelliform lesion

Nov 30 2024 by John S. King, MD

Both right and left eyes have symmetrical ring of mottled hypo/hyper AF around the fovea and disc. The HyperAF areas correspond to RPE deposits on OCT as well as areas of blockage on FA, and drusenoid deposits seen on fundus photos 57 yo WF referred for AMD vs Pattern Dystrophy that was diagnosed 10 years ago. Reported some slow progressive vision loss in both eyes for distance and near. Denies nyctalopia or hemeralopia. Background medical history includes HTN, CVD, and DM. No family history of eye problems. Denied pentosan use. Anterior segment showed moderate cataracts (OD>OS). Posterior segment exam showed macular changes and mild NPDR. The macular appearance showed a symmetrical, paramacular ring of fleck-like drusenoid material with some faint focal areas of RPE hyperplasia. Fundus Photos, AF, OCT were performed as well as a gene test. Further questioning showed revealed that her mother and maternal grandmother had both diabetes mellitus and sensorineural hearing loss. The patient developed diabetes in her teens, and some high frequency hearing loss in her early twenties. She had not had a previous genetic test or diagnosis of MIDD. Gene testing is pending for the mitochondrial component. Invitae's retinal panel, which does not include mitochondrial disorders, only showed a variant of uncertain significance, HMCN1. I discussed this case with Dr. Freund, and it is similar to a the case report : Inoue M, Kiss S, Freund KB. MACULAR PIGMENT RINGS AS THE PRESENTING FINDING OF MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKELIKE EPISODES. Retin Cases Brief Rep. 2015 Fall;9(4):260-4. doi: 10.1097/ICB.0000000000000182. PMID: 26200388.

Photographer: Grace Melton and Carley Gunn

Imaging device: Clarus

Condition/keywords: Macular Dystrophy, Maternally Inherited Diabetes and Deafness, MIDD, Mitochondrial Disorder

Nov 30 2024 by John S. King, MD

Both right and left eyes have symmetrical ring of mottled hypo/hyper AF around the fovea and disc. The HyperAF areas correspond to RPE deposits on OCT as well as areas of blockage on FA, and drusenoid deposits seen on fundus photos. Disc drusen in right eye present as HyperAF spot 57 yo WF referred for AMD vs Pattern Dystrophy that was diagnosed 10 years ago. Reported some slow progressive vision loss in both eyes for distance and near. Denies nyctalopia or hemeralopia. Background medical history includes HTN, CVD, and DM. No family history of eye problems. Denied pentosan use. Anterior segment showed moderate cataracts (OD>OS). Posterior segment exam showed macular changes and mild NPDR. The macular appearance showed a symmetrical, paramacular ring of fleck-like drusenoid material with some faint focal areas of RPE hyperplasia. Fundus Photos, AF, OCT were performed as well as a gene test. Further questioning showed revealed that her mother and maternal grandmother had both diabetes mellitus and sensorineural hearing loss. The patient developed diabetes in her teens, and some high frequency hearing loss in her early twenties. She had not had a previous genetic test or diagnosis of MIDD. Gene testing is pending for the mitochondrial component. Invitae's retinal panel, which does not include mitochondrial disorders, only showed a variant of uncertain significance, HMCN1. I discussed this case with Dr. Freund, and it is similar to a the case report : Inoue M, Kiss S, Freund KB. MACULAR PIGMENT RINGS AS THE PRESENTING FINDING OF MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKELIKE EPISODES. Retin Cases Brief Rep. 2015 Fall;9(4):260-4. doi: 10.1097/ICB.0000000000000182. PMID: 26200388.

Photographer: Grace Melton and Carley Gunn

Imaging device: Clarus

Condition/keywords: Macular Dystrophy, Maternally Inherited Diabetes and Deafness, MIDD, Mitochondrial Disorder

Nov 30 2024 by John S. King, MD

Both the right and left Eye have fairly symmetrical, extrafoveal drusenoid-like flecks and focal and faint areas of RPE hyperplasia (in addition to mild NPDR and PPA) 57 yo WF referred for AMD vs Pattern Dystrophy that was diagnosed 10 years ago. Reported some slow progressive vision loss in both eyes for distance and near. Denies nyctalopia or hemeralopia. Background medical history includes HTN, CVD, and DM. No family history of eye problems. Denied pentosan use. Anterior segment showed moderate cataracts (OD>OS). Posterior segment exam showed macular changes and mild NPDR. The macular appearance showed a symmetrical, paramacular ring of fleck-like drusenoid material with some faint focal areas of RPE hyperplasia. Fundus Photos, AF, OCT were performed as well as a gene test. Further questioning showed revealed that her mother and maternal grandmother had both diabetes mellitus and sensorineural hearing loss. The patient developed diabetes in her teens, and some high frequency hearing loss in her early twenties. She had not had a previous genetic test or diagnosis of MIDD. Gene testing is pending for the mitochondrial component. Invitae's retinal panel, which does not include mitochondrial disorders, only showed a variant of uncertain significance, HMCN1. I discussed this case with Dr. Freund, and it is similar to a the case report : Inoue M, Kiss S, Freund KB. MACULAR PIGMENT RINGS AS THE PRESENTING FINDING OF MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKELIKE EPISODES. Retin Cases Brief Rep. 2015 Fall;9(4):260-4. doi: 10.1097/ICB.0000000000000182. PMID: 26200388.

Photographer: Grace Melton and Carley Gunn

Imaging device: Clarus

Condition/keywords: Macular Dystrophy, Maternally Inherited Diabetes and Deafness, MIDD, Mitochondrial Disorder

Nov 30 2024 by John S. King, MD

Both the right and left Eye have fairly symmetrical, extrafoveal drusenoid-like flecks and focal and faint areas of RPE hyperplasia (in addition to mild NPDR and PPA) 57 yo WF referred for AMD vs Pattern Dystrophy that was diagnosed 10 years ago. Reported some slow progressive vision loss in both eyes for distance and near. Denies nyctalopia or hemeralopia. Background medical history includes HTN, CVD, and DM. No family history of eye problems. Denied pentosan use. Anterior segment showed moderate cataracts (OD>OS). Posterior segment exam showed macular changes and mild NPDR. The macular appearance showed a symmetrical, paramacular ring of fleck-like drusenoid material with some faint focal areas of RPE hyperplasia. Fundus Photos, AF, OCT were performed as well as a gene test. Further questioning showed revealed that her mother and maternal grandmother had both diabetes mellitus and sensorineural hearing loss. The patient developed diabetes in her teens, and some high frequency hearing loss in her early twenties. She had not had a previous genetic test or diagnosis of MIDD. Gene testing is pending for the mitochondrial component. Invitae's retinal panel, which does not include mitochondrial disorders, only showed a variant of uncertain significance, HMCN1. I discussed this case with Dr. Freund, and it is similar to a the case report : Inoue M, Kiss S, Freund KB. MACULAR PIGMENT RINGS AS THE PRESENTING FINDING OF MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKELIKE EPISODES. Retin Cases Brief Rep. 2015 Fall;9(4):260-4. doi: 10.1097/ICB.0000000000000182. PMID: 26200388.

Photographer: Grace Melton and Carley Gunn

Imaging device: Clarus

Condition/keywords: Macular Dystrophy, Maternally Inherited Diabetes and Deafness, MIDD, Mitochondrial Disorder

Nov 30 2024 by John S. King, MD

OCT shows mild RPE deposit inferiorly (corresponds to area of FA blockage and HyperAF) and a focal area of iRORA with loss of EZ more superiorly (possibly due to regression of RPE deposit). No choroidal thickening (like in pachychoroid pigment epitheliopathy or cscr) 57 yo WF referred for AMD vs Pattern Dystrophy that was diagnosed 10 years ago. Reported some slow progressive vision loss in both eyes for distance and near. Denies nyctalopia or hemeralopia. Background medical history includes HTN, CVD, and DM. No family history of eye problems. Denied pentosan use. Anterior segment showed moderate cataracts (OD>OS). Posterior segment exam showed macular changes and mild NPDR. The macular appearance showed a symmetrical, paramacular ring of fleck-like drusenoid material with some faint focal areas of RPE hyperplasia. Fundus Photos, AF, OCT were performed as well as a gene test. Further questioning showed revealed that her mother and maternal grandmother had both diabetes mellitus and sensorineural hearing loss. The patient developed diabetes in her teens, and some high frequency hearing loss in her early twenties. She had not had a previous genetic test or diagnosis of MIDD. Gene testing is pending for the mitochondrial component. Invitae's retinal panel, which does not include mitochondrial disorders, only showed a variant of uncertain significance, HMCN1. I discussed this case with Dr. Freund, and it is similar to a the case report : Inoue M, Kiss S, Freund KB. MACULAR PIGMENT RINGS AS THE PRESENTING FINDING OF MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKELIKE EPISODES. Retin Cases Brief Rep. 2015 Fall;9(4):260-4. doi: 10.1097/ICB.0000000000000182. PMID: 26200388.

Photographer: Grace Melton and Carley Gunn

Imaging device: Zeiss Cirrus

Condition/keywords: Macular Dystrophy, Maternally Inherited Diabetes and Deafness, MIDD, Mitochondrial Disorder

Nov 30 2024 by John S. King, MD

Magnified section of radial scan through the left eye showing a focal nodular RPE deposit that corresponds to a focal drusenoid deposit in temporal macula, that HypoFLs and HyperAFs. Choroid not significantly thickened or thinned, and the nodular thickening may be just above a large outer choroid vessel?) 57 yo WF referred for AMD vs Pattern Dystrophy that was diagnosed 10 years ago. Reported some slow progressive vision loss in both eyes for distance and near. Denies nyctalopia or hemeralopia. Background medical history includes HTN, CVD, and DM. No family history of eye problems. Denied pentosan use. Anterior segment showed moderate cataracts (OD>OS). Posterior segment exam showed macular changes and mild NPDR. The macular appearance showed a symmetrical, paramacular ring of fleck-like drusenoid material with some faint focal areas of RPE hyperplasia. Fundus Photos, AF, OCT were performed as well as a gene test. Further questioning showed revealed that her mother and maternal grandmother had both diabetes mellitus and sensorineural hearing loss. The patient developed diabetes in her teens, and some high frequency hearing loss in her early twenties. She had not had a previous genetic test or diagnosis of MIDD. Gene testing is pending for the mitochondrial component. Invitae's retinal panel, which does not include mitochondrial disorders, only showed a variant of uncertain significance, HMCN1. I discussed this case with Dr. Freund, and it is similar to a the case report : Inoue M, Kiss S, Freund KB. MACULAR PIGMENT RINGS AS THE PRESENTING FINDING OF MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKELIKE EPISODES. Retin Cases Brief Rep. 2015 Fall;9(4):260-4. doi: 10.1097/ICB.0000000000000182. PMID: 26200388.

Photographer: Grace Melton and Carley Gunn

Imaging device: Zeiss Cirrus

Condition/keywords: Macular Dystrophy, Maternally Inherited Diabetes and Deafness, MIDD, Mitochondrial Disorder

Nov 30 2024 by John S. King, MD

Both eyes had similar FA findings. There was no dark choroid or signs of leakage. Granular staining around the fovea and disc were present, and the HypoAF areas corresponded to the drusenoid deposits that showed HyperAF. Mild MAs present due to NPDR 57 yo WF referred for AMD vs Pattern Dystrophy that was diagnosed 10 years ago. Reported some slow progressive vision loss in both eyes for distance and near. Denies nyctalopia or hemeralopia. Background medical history includes HTN, CVD, and DM. No family history of eye problems. Denied pentosan use. Anterior segment showed moderate cataracts (OD>OS). Posterior segment exam showed macular changes and mild NPDR. The macular appearance showed a symmetrical, paramacular ring of fleck-like drusenoid material with some faint focal areas of RPE hyperplasia. Fundus Photos, AF, OCT were performed as well as a gene test. Further questioning showed revealed that her mother and maternal grandmother had boith diabetes mellitus and sensorineural hearing loss. The patient developed diabetes in her teens, and some high frequency hearing loss in her early twenties. She had not had a previous genetic test or diagnosis of MIDD. Gene testing is pending for the mitochondrial component. Invitae's retinal panel, which does not include mitochondrial disorders, only showed a variant of uncertain significance, HMCN1. I discussed this case with Dr. Freund, and it is similar to a the case report : Inoue M, Kiss S, Freund KB. MACULAR PIGMENT RINGS AS THE PRESENTING FINDING OF MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKELIKE EPISODES. Retin Cases Brief Rep. 2015 Fall;9(4):260-4. doi: 10.1097/ICB.0000000000000182. PMID: 26200388.

Photographer: Grace Melton and Carley Gunn

Imaging device: Clarus

Condition/keywords: Macular Dystrophy, Maternally Inherited Diabetes and Deafness, MIDD, Mitochondrial Disorder

Nov 30 2024 by John S. King, MD

Both eyes had similar FA findings. There was no dark choroid or signs of leakage. Granular staining around the fovea and disc were present, and the HypoAF areas corresponded to the drusenoid deposits that showed HyperAF. Mild MAs present due to NPDR 57 yo WF referred for AMD vs Pattern Dystrophy that was diagnosed 10 years ago. Reported some slow progressive vision loss in both eyes for distance and near. Denies nyctalopia or hemeralopia. Background medical history includes HTN, CVD, and DM. No family history of eye problems. Denied pentosan use. Anterior segment showed moderate cataracts (OD>OS). Posterior segment exam showed macular changes and mild NPDR. The macular appearance showed a symmetrical, paramacular ring of fleck-like drusenoid material with some faint focal areas of RPE hyperplasia. Fundus Photos, AF, OCT were performed as well as a gene test. Further questioning showed revealed that her mother and maternal grandmother had boith diabetes mellitus and sensorineural hearing loss. The patient developed diabetes in her teens, and some high frequency hearing loss in her early twenties. She had not had a previous genetic test or diagnosis of MIDD. Gene testing is pending for the mitochondrial component. Invitae's retinal panel, which does not include mitochondrial disorders, only showed a variant of uncertain significance, HMCN1. I discussed this case with Dr. Freund, and it is similar to a the case report : Inoue M, Kiss S, Freund KB. MACULAR PIGMENT RINGS AS THE PRESENTING FINDING OF MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKELIKE EPISODES. Retin Cases Brief Rep. 2015 Fall;9(4):260-4. doi: 10.1097/ICB.0000000000000182. PMID: 26200388.

Photographer: Grace Melton and Carley Gunn

Imaging device: Clarus

Condition/keywords: Macular Dystrophy, Maternally Inherited Diabetes and Deafness, MIDD, Mitochondrial Disorder

Sep 17 2024 by Nicolas A Yannuzzi, MD

The PD simulates Stargardt disease/fundus flavimaculatus with irregular yellow-white flecks scattered throughout the posterior pole. Some lesions extend beyond the retinal vascular arcades.

Condition/keywords: inherited retinal disease, pattern dystrophy

Sep 17 2024 by Nicolas A Yannuzzi, MD

He had a significant family history of dominant macular dystrophy. OCT images demonstrate intraretinal fluid and disruption of the retinal layers in both eyes. Additionally, vitelliform material can be seen in the right eye and an area of choroidal protrusion in the left. (Images courtesy of Byron L. Lam, MD)

Condition/keywords: inherited retinal disease, pattern dystrophy

Sep 17 2024 by Nicolas A Yannuzzi, MD

Visual acuity was 20/20 OD and 20/25 OS. Genetic testing showed only 1 pathogenic variation in ABCA4, which is atypical for STGD1 Stargardt disease that is inherited in autosomal recessive fashion. (Images courtesy of Byron L. Lam, MD)

Condition/keywords: inherited retinal disease, pattern dystrophy

Sep 17 2024 by Nicolas A Yannuzzi, MD

Visual acuity was 20/20 OD and 20/60 OS. Genetics testing showed multiple variants of unknown significance in PEX1, PRPH2, TTLL5, and WFS1. (Images courtesy of Byron L. Lam, MD)

Condition/keywords: inherited retinal disease, pattern dystrophy

May 30 2023 by Virginia Gebhart

Pattern dystrophy OU, possible Stargardt disease. Genetic testing done in office to confirm. Vision limited to 20/200 OU due to atrophy

Photographer: Virginia Gebhart, Retina Consultants of Carolina

Imaging device: Topcon TRC 50DX

Condition/keywords: pattern dystrophy, Stargardt Disease

Oct 15 2022 by Zura Glonti

characterized by a network of hyperpigmentation, resembling a fishing net with knots, located in the RPE and a presumed unaffected choriocapillaris. The network of hyperpigmentation extends from the macula in all directions. With age, most lesions fade away. However, some are replaced with atrophic changes in the RPE. Patients should be reassured that their condition generally does not significantly affect their vision and is very slow to progress. Pattern dystrophies have previously been misdiagnosed as AMD, which has led to unnecessary emotional stress in patients concerned with impending vision loss and unnecessary treatments, such as vitamin supplements and anti-VEGF injections.

Photographer: Zura Glonti

Imaging device: Zeiss Visucam 500

Condition/keywords: Reticular Pattern Dystrophy

Oct 15 2022 by Zura Glonti

characterized by a network of hyperpigmentation, resembling a fishing net with knots, located in the RPE and a presumed unaffected choriocapillaris. The network of hyperpigmentation extends from the macula in all directions. With age, most lesions fade away. However, some are replaced with atrophic changes in the RPE. Patients should be reassured that their condition generally does not significantly affect their vision and is very slow to progress. Pattern dystrophies have previously been misdiagnosed as AMD, which has led to unnecessary emotional stress in patients concerned with impending vision loss and unnecessary treatments, such as vitamin supplements and anti-VEGF injections.

Photographer: Zura Glonti

Imaging device: Visucam Zeiss 500

Condition/keywords: reticular pattern dystrophy

Oct 15 2022 by Zura Glonti

characterized by a network of hyperpigmentation, resembling a fishing net with knots, located in the RPE and a presumed unaffected choriocapillaris. The network of hyperpigmentation extends from the macula in all directions. With age, most lesions fade away. However, some are replaced with atrophic changes in the RPE. Patients should be reassured that their condition generally does not significantly affect their vision and is very slow to progress. Pattern dystrophies have previously been misdiagnosed as AMD, which has led to unnecessary emotional stress in patients concerned with impending vision loss and unnecessary treatments, such as vitamin supplements and anti-VEGF injections.

Photographer: Zura Glonti

Imaging device: Zeiss Visucam 500

Condition/keywords: reticular pattern dystrophy

Mar 4 2021 by Cláudia Farinha

Color and autofluorescence optomap images from a 69-year-old man with a long-term diagnosis of reticular pattern dystrophy with bilateral macular atrophy.

Photographer: Claudia Farinha, MD

Imaging device: Optomap, Optos

Condition/keywords: reticular pattern dystrophy

Jun 5 2020 by stephen oconnell

Reticular pattern dystrophy.

Condition/keywords: reticular pattern dystrophy

May 19 2020 by Evgeniia Perevoznikova

Butterfly-shaped pattern dystrophy.

Photographer: ophthalmologist_evgeniya

Condition/keywords: butterfly dystrophy

May 19 2020 by Evgeniia Perevoznikova

Butterfly-shaped pattern dystrophy.

Photographer: ophthalmologist_evgeniya

Condition/keywords: butterfly dystrophy

May 19 2020 by Evgeniia Perevoznikova

Butterfly-shaped pattern dystrophy.

Photographer: ophthalmologist_evgeniya

Condition/keywords: butterfly dystrophy