Phenotype #0000307297

Individual ID	00415512
Associated disease	-
Phenotype details	grade 3 coloboma-like lesion of both maculae resulting in best corrected visual acuity right, left eye: counting fingers, 20/20; fundus photographs show a bilateral grade 3 coloboma-like lesion more severe right > left eye; misdiagnosed in childhood as having congenital toxoplasmosis; right macula - submacular fibrosis extending under the nasal macula and superior to the optic nerve, suggesting a previous episode of an actively leaking choroidal neovascularization (CNVM); spectral domain optical coherence tomography, right eye: macular colobomalike lesion with a discrete, well-demarcated absence of the photoreceptors and retinal pigment epithelium, choroid encircled by subretinal fibrosis - because of the nasal macular location of the fibrosis and the loss of the inner segment and outer segment photoreceptor junction within the lesion, significant vision loss in the right eye is not mirrored in the left eye; if the CNVM in the nasal macula right eye occurred early in life, the poor vision in the right eye may be in part due to induced amblyopia from the better left eye having a competitive advantage over the right eye as well. Left eye: a grade 3 classic North Carolina macular dystrophy lesion, with its appearance being more dramatic than the severity of vision loss; center of the macula appears to be rotated inferiorly; spectral domain optical coherence tomography: intrachoroidal fluid containing spaces which are not vascular, as evidenced on optical coherence tomography angiogram and intravenous fluorescein angiograms; nasal edge of the lesion - preserved inner segment and outer segment junction where slightly eccentric fixation is located, as evidenced on microperimetry results, there, preserved choroid and all layers of the retina; within the lesion, total disruption and loss of organized structure to the retina and choroid; microperimetry and multifocal electroretinography: little, if any, function of the retina within the lesion results; optical coherence tomography angiogram: retinal vasculature relatively intact despite the disruption of the other retinal layers; foveal avascular zone enlarged and irregular, retinal vasculature atypical, not seen on standard fluorescein angiograms - prominent choroidal vasculature with absence of the choriocapilaris within the lesion on OCTAs and intravenous fluorescein angiograms, along with an absence of retinal pigment epithelium; spectral domain optical coherence tomography: absence of the typical layers of the neurosensory retina within the lesion, suggesting complete disorganization of the maculae, choroid absent completely posterior to the disorganized macula; microperimetry and multifocal electroretinography: eccentric fixation worse in the right eye (poor, consistent with no central macular function and with loss of the retinal pigment epithelium in the nasal macula) than in the left fixation in right eye is. This level of severity in NCMD in the right eye is unusual and is consistent with a history of previous leakage from a CNVM in the nasal macula, which is typically the region of good vision and fixation in persons with NCMD; left eye shows fixation at the nasal edge of the lesion, which is a typical finding in NCMD cases and is consistent with the intact retinal inner segment and outer segment junction and good vision; full-field electroretinogram: right eye depressed in all functions, consistent with the large area of retinal scarring, atrophy, or fibrosis, or a combination of these, from a probable CNVM leak in the past; full-field ERG left eye: normal
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	North Carolina macular dystrophy
Age/Examination	35y (35 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-08-14 16:47:31 +02:00 (CEST)
Date last edited	N/A