Multimodal Imaging and Functional Testing in a North Carolina Macular Disease Family: Toxoplasmosis, Fovea Plana, and Torpedo Maculopathy Are Phenocopies

2019 ◽  
Vol 3 (7) ◽  
pp. 607-614
Author(s):  
Kent W. Small ◽  
Elaine M. Tran ◽  
Leslie Small ◽  
Rajesh C. Rao ◽  
Fadi Shaya
2019 ◽  
Author(s):  
Yuhua Ding ◽  
Bangtao Yao ◽  
Hui Ye ◽  
Yan Yu

Abstract Background: Torpedo maculopathy is a rare, benign, and congenital macular lesion that typically appears in ‘torpedo-shape’ and is located at the temporal macula region. This article aimed to describe in detail regarding the torpedo maculopathy in a Chinese woman using multimodal imaging. Case presentation: A 30-year-old Chinese woman with occasional yellowish-white macular lesions in her right eye during a routine examination was presented to our hospital. She had no symptoms, and the best-corrected visual acuity of both eyes was 6/6. Funduscopic examination revealed a torpedo-shaped and mild hypopigmentation lesion in the temporal macular area of her right eye. Infrared fundal (IR) photograph showed that the lesion contour was visible, transverse elliptical, with a tip pointing towards the central fovea of the macula. Microperimetry visual field appeared normal. The spectral-domain optical coherence tomography (SD-OCT) showed a normal inner retina, with mild thinner outer retina and RPE in the temporal macular area, and correspondingly increased choroidal reflectivity. Other OCT findings included outer retinal loss/attenuation with significant atrophy of an intact ellipsoid zone. OCT angiography (OCTA) of choroid capillary layer revealed increased density of choroidal vasculature, corresponding to the area of the lesion, while the superficial and deep layers revealed normal vasculature. Fundus autofluorescence (FAF) revealed normal signal with slight hyperautofluorescence at the nasal lesion margin. Fundus fluorescence angiography (FFA) of the lesion showed variegated fluorescence and no leakage and change in the morphology during the whole imaging process. Conclusions: This is the first report that put forwarded a thorough and detailed description of torpedo maculopathy simultaneously by using fundal photograph, IR, microperimetry visual field, OCT, OCTA, FAF, and FFA. Multimodal imaging provides precious and detailed information to further clarify the characteristics and development of this rare disease.


2019 ◽  
Author(s):  
Yuhua Ding ◽  
Bangtao Yao ◽  
Hui Ye ◽  
Yan Yu

Abstract Background: Torpedo maculopathy is a rare, benign, and congenital macular lesion that typically appears in ‘torpedo-shape’ and located at the temporal macula region. The purpose of this article is to describe in detailed regarding the torpedo maculopathy in a Chinese woman using multimodal imaging. Case presentation: A 30-year-old Chinese woman occasionally had an yellowish-white macular lesion in her right eye during a routine examination. She had no symptoms, and the best-corrected visual acuity of both eyes was 6/6. Funduscopic examination revealed a torpedo-shaped and mild hyperpigmentation lesion in the temporal macular area of her right eye. Infrared fundal (IR) photograph showed that the lesion contour was visible, transverse elliptical, a tip pointed towards the central fovea of the macula. Microperimetry visual field appeared normal. The spectral-domain optical coherence tomography (SD-OCT) showed a normal inner, mildly thinned retinal pigment epithelium (RPE), and increased choroidal signal. OCT angiography (OCTA) choroid capillary segment revealed increased density of the choroidal vasculature. With fundus autofluorescence (FAF), the lesion showed slight hypoautofluorescence, and marginal mild hypoautofluorescence. Fundus fluorescence angiography (FFA) of the lesion showed variegated fluorescence and no leakage and change in the morphology during the whole imaging process. Conclusions: This is the first report to put forward a thorough and detailed description of torpedo maculopathy simultaneously using fundal photograph, IR, microperimetry visual field, OCT, OCTA, FAF, and FFA. Multimodal imaging provides precious and detailed information to further clarify the characteristics and development of this rare disease.


2019 ◽  
Vol 30 (2) ◽  
pp. NP27-NP31 ◽  
Author(s):  
Juliette Hugo ◽  
Marie Beylerian ◽  
Eric Denion ◽  
Aurore Aziz ◽  
Pierre Gascon ◽  
...  

Purpose: The etiology of torpedo maculopathy remains unknown, but it has been recently suggested that it could represent a persistent defect in the development of the retinal pigment epithelium. As retinal pigment epithelium and photoreceptors form a functional unit, an alteration of photoreceptor distribution or function is predictable. The aim of this study is to describe multimodal imaging, including adaptive optics, in three cases of torpedo maculopathy, and discuss its pathogenesis. Methods: Multimodal imaging is presented, including fundus photographs, optical coherence tomography, adaptive optics, autofluorescence, fluorescein angiography, and ultra-widefield retinal imaging in three cases of torpedo maculopathy. Results: An oval-shaped well-delimited chorioretinal lesion both hypopigmented centrally and with a hyperpigmented border in the temporal macula, consistent with torpedo maculopathy, was observed in three patients. Optical coherence tomography showed a preservation of the inner retina, a mild atrophy of the outer retina, an alteration of the ellipsoid zone and of the retinal pigment epithelium layer, and a neurosensory detachment. These lesions were hypoautofluorescent with a hyperautofluorescent border. Fluorescein angiography showed a hyperfluorescence by window effect. Adaptive optics imaging showed an alteration of the cone mosaic within the lesions, with a lower cone density and a higher spacing between cones. Conclusion: The alteration of the cone mosaic suggested by adaptive optics in torpedo maculopathy has never been described and could be explained by the alteration of the retinal pigment epithelium. Our results support the existing hypothesis on the pathogenesis of torpedo maculopathy that a persistent defect in the development of the retinal pigment epithelium may be responsible for this clinical entity.


2021 ◽  
Author(s):  
João Pedro Marques ◽  
Ana Marta ◽  
Sara Geada ◽  
Ana Luísa Carvalho ◽  
Pedro Menéres ◽  
...  

INTRODUCTION The purpose of this study was to compare clinical/demographic, functional testing and multimodal imaging features between genetically solved and genetically unsolved non-syndromic retinitis pigmentosa (nsRP) patients. METHODS Cross sectional study conducted at an inherited retinal dystrophies reference center. Consecutive patients with nsRP and available genetic testing results performed between 2018 and 2020 were included. Genetic testing was clinically-oriented and variants were classified according to the American College of Medical Genetics and Genomics. Only class IV or V variants were considered disease-causing. Clinical/demographic, functional and imaging features were compared between genetically unsolved (G1) and genetically solved (G2) patients. RESULTS A total of 175 patients (146 families) were included: 68 patients (59 families) in G1 and 107 patients (87 families) in G2. First symptoms <25 years, consanguinity, evidence for a particular inheritance pattern and absence of indicators for phenocopies were significantly more prevalent in G2. No significant differences were observed on best-corrected visual acuity. The visual field index and mean central retinal layer thickness were significantly higher in G1. The frequency of atypical features on multimodal imaging did not differ between groups. CONCLUSION Individual clinical/demographic, functional testing and multimodal imaging features should be considered when counselling patients about the probability of identifying disease-causing variants.


2020 ◽  
Vol 68 (7) ◽  
pp. 1448
Author(s):  
Ashwin Mohan ◽  
Manoj Soman ◽  
Sheera Arun ◽  
Anshuman Gehlot ◽  
Rejina Mohan ◽  
...  

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Yuhua Ding ◽  
Bangtao YAO ◽  
Hui Ye ◽  
Yan Yu

2019 ◽  
Author(s):  
Yuhua Ding ◽  
Bangtao Yao ◽  
Hui Ye ◽  
Yan Yu

Abstract Background: Torpedo maculopathy is a rare, benign, and congenital macular lesion that typically appears in a ‘torpedo-shape’ and is located at the temporal macula region. This study aimed to describe in detail regarding torpedo maculopathy in a Chinese woman using multimodal imaging. Case presentation: A 30-year-old Chinese woman with occasional yellowish-white macular lesions in her right eye during a routine examination was presented to our hospital. She had no other symptoms, and the best-corrected visual acuity of both eyes was 6/6. Funduscopic examination revealed a torpedo-shaped and mild hypopigmented lesion in the temporal macular area of her right eye. Infrared fundal (IR) images showed visible lesion contour, transverse elliptical, and with a tip pointing towards the central fovea of the macula. Microperimetry visual field appeared normal. The spectral-domain optical coherence tomography (SD-OCT) showed a normal inner retina, with mild thinner outer retina and retinal pigment epithelium in the temporal macular area, and correspondingly increased choroidal reflectivity. Other OCT findings included outer retinal loss/attenuation with significant atrophy of an intact ellipsoid zone. OCT angiography (OCTA) of choroid capillary layer revealed increased density of choroidal vasculature in corresponding to the area of the lesion, while the superficial and deep layers revealed normal vasculature. Fundus autofluorescence (FAF) revealed normal signal with slight hyperautofluorescence at the nasal lesion margin. Fundus fluorescence angiography (FFA) of the lesion showed variegated fluorescence and no leakage and change in the morphology during the whole imaging process. Conclusions: This is the first report to include a thorough and detailed description of torpedo maculopathy by using fundal photograph, IR, microperimetry visual field, OCT, OCTA, FAF, and FFA. Multimodal imaging provides precious and detailed information to further clarify the characteristics and development of this rare disease.


Itinerario ◽  
2000 ◽  
Vol 24 (2) ◽  
pp. 146-169 ◽  
Author(s):  
Michael Leroy Oberg

In August of 1587 Manteo, an Indian from Croatoan Island, joined a group of English settlers in an attack on the native village of Dasemunkepeuc, located on the coast of present-day North Carolina. These colonists, amongst whom Manteo lived, had landed on Roanoke Island less than a month before, dumped there by a pilot more interested in hunting Spanish prize ships than in carrying colonists to their intended place of settlement along the Chesapeake Bay. The colonists had hoped to re-establish peaceful relations with area natives, and for that reason they relied upon Manteo to act as an interpreter, broker, and intercultural diplomat. The legacy of Anglo-Indian bitterness remaining from Ralph Lane's military settlement, however, which had hastily abandoned the island one year before, was too great for Manteo to overcome. The settlers found themselves that summer in the midst of hostile Indians.


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