A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia
Purpose: We describe a unique case of CDH3-related hypotrichosis with juvenile macular dystrophy (HJMD) and DNAH5-related primary ciliary dyskinesia (PCD) with progressive vision loss in a young Indian female without positive family history. Both mutations in this patient have not been previously de...
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doaj-e31805ac19954db18fb49c528accbf922020-11-25T02:04:18ZengElsevierAmerican Journal of Ophthalmology Case Reports2451-99362019-09-0115A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesiaKenneth C. Fan0Nimesh A. Patel1Nicolas A. Yannuzzi2Supalert Prakhunhungsit3Catherin I. Negron4Elisa Basora5Andrew A. Colin6Mustafa Tekin7Audina M. Berrocal8Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, 900 NW 17th Avenue, Miami, FL, 33136, USA; Corresponding author. Bascom Palmer Eye Institute 900 NW 17th Avenue, Miami, FL, 33136, USA.Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, 900 NW 17th Avenue, Miami, FL, 33136, USADepartment of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, 900 NW 17th Avenue, Miami, FL, 33136, USADepartment of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, 900 NW 17th Avenue, Miami, FL, 33136, USADepartment of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, 900 NW 17th Avenue, Miami, FL, 33136, USADivision of Respiratory Medicine, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX, 75390-9063, USADivision of Pediatric Pulmonology, Miller School of Medicine, University of Miami, 1580 NW 10th Avenue, Miami, FL, 33136, USADr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10th Avenue, Miami, FL, 33136, USADepartment of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, 900 NW 17th Avenue, Miami, FL, 33136, USAPurpose: We describe a unique case of CDH3-related hypotrichosis with juvenile macular dystrophy (HJMD) and DNAH5-related primary ciliary dyskinesia (PCD) with progressive vision loss in a young Indian female without positive family history. Both mutations in this patient have not been previously described in the literature. Observations: An 11-year-old girl of Indian descent from a consanguineous family presented to our clinic with poor central visual acuity, recurrent sinopulmonary infections, hypotrichosis, and gradual hearing loss. Fundus examination was significant for atrophic retinal pigmented epithelial (RPE) changes involving both the macula and periphery of both eyes with central foveal hypoautofluorescence. Optical coherence tomography (OCT) demonstrated RPE loss and significant disruption of the ellipsoid layer in both eyes. Full-field electrophysiology tests on initial presentation demonstrated low cone amplitude reduced to <70% of normal range without prolongation. OCT angiography of the RPE and choriocapillaris demonstrated possible flow voids in the central macular region of both eyes. Genetic testing showed that the proband was homozygous for variants CDH3 c.1660A > C; p. Thr554Pro and DNAH5 c.6688-1G>T. Conclusion: and Importance: We report two novel variants in the CDH3 and DNAH5 genes that are important for future mutational analysis of both HJMD and PCD respectively. A relationship between the cadherin protein dysfunction in CDH3 mutations and the ciliopathy of DNAH5 mutations has not been established. HJMD is known to cause a longitudinal deterioration of cone and rod mediated function, therefore recognizing the symptoms, visual impairment, physical examination, and photographic and electrophysiological findings is crucial in counseling the patient, the family, and fellow clinicians. Keywords: Hypotrichosis with juvenile macular dystrophy, Primary ciliary dyskinesia, Ciliopathy, Retinal pigmented epithelium, Photoreceptorshttp://www.sciencedirect.com/science/article/pii/S2451993619300660 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Kenneth C. Fan Nimesh A. Patel Nicolas A. Yannuzzi Supalert Prakhunhungsit Catherin I. Negron Elisa Basora Andrew A. Colin Mustafa Tekin Audina M. Berrocal |
spellingShingle |
Kenneth C. Fan Nimesh A. Patel Nicolas A. Yannuzzi Supalert Prakhunhungsit Catherin I. Negron Elisa Basora Andrew A. Colin Mustafa Tekin Audina M. Berrocal A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia American Journal of Ophthalmology Case Reports |
author_facet |
Kenneth C. Fan Nimesh A. Patel Nicolas A. Yannuzzi Supalert Prakhunhungsit Catherin I. Negron Elisa Basora Andrew A. Colin Mustafa Tekin Audina M. Berrocal |
author_sort |
Kenneth C. Fan |
title |
A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia |
title_short |
A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia |
title_full |
A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia |
title_fullStr |
A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia |
title_full_unstemmed |
A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia |
title_sort |
unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia |
publisher |
Elsevier |
series |
American Journal of Ophthalmology Case Reports |
issn |
2451-9936 |
publishDate |
2019-09-01 |
description |
Purpose: We describe a unique case of CDH3-related hypotrichosis with juvenile macular dystrophy (HJMD) and DNAH5-related primary ciliary dyskinesia (PCD) with progressive vision loss in a young Indian female without positive family history. Both mutations in this patient have not been previously described in the literature. Observations: An 11-year-old girl of Indian descent from a consanguineous family presented to our clinic with poor central visual acuity, recurrent sinopulmonary infections, hypotrichosis, and gradual hearing loss. Fundus examination was significant for atrophic retinal pigmented epithelial (RPE) changes involving both the macula and periphery of both eyes with central foveal hypoautofluorescence. Optical coherence tomography (OCT) demonstrated RPE loss and significant disruption of the ellipsoid layer in both eyes. Full-field electrophysiology tests on initial presentation demonstrated low cone amplitude reduced to <70% of normal range without prolongation. OCT angiography of the RPE and choriocapillaris demonstrated possible flow voids in the central macular region of both eyes. Genetic testing showed that the proband was homozygous for variants CDH3 c.1660A > C; p. Thr554Pro and DNAH5 c.6688-1G>T. Conclusion: and Importance: We report two novel variants in the CDH3 and DNAH5 genes that are important for future mutational analysis of both HJMD and PCD respectively. A relationship between the cadherin protein dysfunction in CDH3 mutations and the ciliopathy of DNAH5 mutations has not been established. HJMD is known to cause a longitudinal deterioration of cone and rod mediated function, therefore recognizing the symptoms, visual impairment, physical examination, and photographic and electrophysiological findings is crucial in counseling the patient, the family, and fellow clinicians. Keywords: Hypotrichosis with juvenile macular dystrophy, Primary ciliary dyskinesia, Ciliopathy, Retinal pigmented epithelium, Photoreceptors |
url |
http://www.sciencedirect.com/science/article/pii/S2451993619300660 |
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