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Multimodal Imaging and Functional Testing in a North Carolina Macular Disease Family: Toxoplasmosis, Fovea Plana, and Torpedo Maculopathy Are Phenocopies.
Ophthalmol Retina. 2019 07; 3(7):607-614.OR

Abstract

PURPOSE

To describe multimodal imaging and corresponding functional studies in a newly found family with North Carolina macular dystrophy (NCMD). To our knowledge, this is an original report using OCT angiography to evaluate persons with NCMD.

DESIGN

A descriptive, retrospective study of a family with NCMD.

PARTICIPANTS

A total of 3 participants, representing 3 generations of a single family, each demonstrating a different grade of NCMD, underwent clinical and genetic testing.

METHODS

Diagnostic multimodal imaging and functional testing of the retina included color fundus photography, fundus autofluorescence, intravenous fluorescein angiography, spectral-domain OCT and OCT angiography, multifocal electroretinography, full-field electroretinography, and microperimetry. DNA sequencing was performed using Sanger sequencing techniques.

MAIN OUTCOME MEASURES

Spectral-domain OCT images, fundus photographs, fundus autofluorescence images, fluorescein angiograms, OCT angiograms, multifocal electroretinography images, full-field electroretinography images, and microperimetry maps. Sanger sequencing was performed for molecular diagnosis.

RESULTS

Multimodal imaging helped to demonstrate the nature of the retinal and choroidal lesions in each participant and the extent of visual function. Genetic testing demonstrated the variant 2 point mutation (chromosome 6: 99593111) in the deoxyribonuclease 1 hypersensitivity binding site on chromosome 6q16 causing overexpression of the retinal transcription factor PRDM13.

CONCLUSIONS

NCMD has great phenotypic variability, which can be appreciated only by examining multiple family members. To our knowledge, this is an original report that shows a correlation of functional studies with multimodal imaging. These findings are consistent with NCMD being a developmental abnormality of the macula. All layers of the retina and choroid demonstrate maldevelopment and varying degrees of malfunction. Although PRDM13 is expressed in the amacrine cells, we have yet to identify an abnormality specific to this cellular layer. The retinal vasculature appears to be surprisingly well preserved or intact by OCT angiogram compared with that shown in intravenous fluorescein angiograms. OCT angiograms suggest that foveal hypoplasia is a phenocopy of grade 1 NCMD, torpedo maculopathy is a phenocopy of grade 2 NCMD, and in this single family, congenital toxoplasmosis is a phenocopy of grade 3 NCMD.

Authors+Show Affiliations

Macula and Retina Institute, Los Angeles and Glendale, California; Molecular Insight Research Foundation, Los Angeles and Glendale, California. Electronic address: kentsmall@hotmail.com.Division of Ophthalmology, Warren Alpert Medical School, Brown University, Providence, Rhode Island.Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami, Miami, Florida.Department of Ophthalmology and Visual Sciences, W. K. Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan; Department of Pathology, University of Michigan, Ann Arbor, Michigan; Surgery Service, Department of Veterans Affairs Ann Arbor Healthcare system, Ann Arbor, Michigan; A. Alfred Taubman Medical Research Institute, University of Michigan, Ann Arbor, Michigan; Comprehensive Cancer Center, University of Michigan, Ann Arbor, Michigan.Macula and Retina Institute, Los Angeles and Glendale, California; Molecular Insight Research Foundation, Los Angeles and Glendale, California.

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

31043363

Citation

Small, Kent W., et al. "Multimodal Imaging and Functional Testing in a North Carolina Macular Disease Family: Toxoplasmosis, Fovea Plana, and Torpedo Maculopathy Are Phenocopies." Ophthalmology. Retina, vol. 3, no. 7, 2019, pp. 607-614.
Small KW, Tran EM, Small L, et al. Multimodal Imaging and Functional Testing in a North Carolina Macular Disease Family: Toxoplasmosis, Fovea Plana, and Torpedo Maculopathy Are Phenocopies. Ophthalmol Retina. 2019;3(7):607-614.
Small, K. W., Tran, E. M., Small, L., Rao, R. C., & Shaya, F. (2019). Multimodal Imaging and Functional Testing in a North Carolina Macular Disease Family: Toxoplasmosis, Fovea Plana, and Torpedo Maculopathy Are Phenocopies. Ophthalmology. Retina, 3(7), 607-614. https://doi.org/10.1016/j.oret.2019.03.002
Small KW, et al. Multimodal Imaging and Functional Testing in a North Carolina Macular Disease Family: Toxoplasmosis, Fovea Plana, and Torpedo Maculopathy Are Phenocopies. Ophthalmol Retina. 2019;3(7):607-614. PubMed PMID: 31043363.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Multimodal Imaging and Functional Testing in a North Carolina Macular Disease Family: Toxoplasmosis, Fovea Plana, and Torpedo Maculopathy Are Phenocopies. AU - Small,Kent W, AU - Tran,Elaine M, AU - Small,Leslie, AU - Rao,Rajesh C, AU - Shaya,Fadi, Y1 - 2019/03/13/ PY - 2018/12/10/received PY - 2019/02/19/revised PY - 2019/03/01/accepted PY - 2019/5/3/pubmed PY - 2020/6/27/medline PY - 2019/5/3/entrez SP - 607 EP - 614 JF - Ophthalmology. Retina JO - Ophthalmol Retina VL - 3 IS - 7 N2 - PURPOSE: To describe multimodal imaging and corresponding functional studies in a newly found family with North Carolina macular dystrophy (NCMD). To our knowledge, this is an original report using OCT angiography to evaluate persons with NCMD. DESIGN: A descriptive, retrospective study of a family with NCMD. PARTICIPANTS: A total of 3 participants, representing 3 generations of a single family, each demonstrating a different grade of NCMD, underwent clinical and genetic testing. METHODS: Diagnostic multimodal imaging and functional testing of the retina included color fundus photography, fundus autofluorescence, intravenous fluorescein angiography, spectral-domain OCT and OCT angiography, multifocal electroretinography, full-field electroretinography, and microperimetry. DNA sequencing was performed using Sanger sequencing techniques. MAIN OUTCOME MEASURES: Spectral-domain OCT images, fundus photographs, fundus autofluorescence images, fluorescein angiograms, OCT angiograms, multifocal electroretinography images, full-field electroretinography images, and microperimetry maps. Sanger sequencing was performed for molecular diagnosis. RESULTS: Multimodal imaging helped to demonstrate the nature of the retinal and choroidal lesions in each participant and the extent of visual function. Genetic testing demonstrated the variant 2 point mutation (chromosome 6: 99593111) in the deoxyribonuclease 1 hypersensitivity binding site on chromosome 6q16 causing overexpression of the retinal transcription factor PRDM13. CONCLUSIONS: NCMD has great phenotypic variability, which can be appreciated only by examining multiple family members. To our knowledge, this is an original report that shows a correlation of functional studies with multimodal imaging. These findings are consistent with NCMD being a developmental abnormality of the macula. All layers of the retina and choroid demonstrate maldevelopment and varying degrees of malfunction. Although PRDM13 is expressed in the amacrine cells, we have yet to identify an abnormality specific to this cellular layer. The retinal vasculature appears to be surprisingly well preserved or intact by OCT angiogram compared with that shown in intravenous fluorescein angiograms. OCT angiograms suggest that foveal hypoplasia is a phenocopy of grade 1 NCMD, torpedo maculopathy is a phenocopy of grade 2 NCMD, and in this single family, congenital toxoplasmosis is a phenocopy of grade 3 NCMD. SN - 2468-6530 UR - https://www.unboundmedicine.com/medline/citation/31043363/Multimodal_Imaging_and_Functional_Testing_in_a_North_Carolina_Macular_Disease_Family:_Toxoplasmosis_Fovea_Plana_and_Torpedo_Maculopathy_Are_Phenocopies_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S2468-6530(18)30678-X DB - PRIME DP - Unbound Medicine ER -