Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, with characteristics of retinal atrophy and retinal detachment leading to loss of central vision, then peripheral vision, and eventually blindness. |
Is a |
True |
Hereditary macular dystrophy |
Inferred relationship |
Some |
|
Dominant drusen |
Is a |
False |
Hereditary macular dystrophy |
Inferred relationship |
Some |
|
Bull's eye macular dystrophy |
Is a |
True |
Hereditary macular dystrophy |
Inferred relationship |
Some |
|
Pattern dystrophy of macula |
Is a |
False |
Hereditary macular dystrophy |
Inferred relationship |
Some |
|
dystrophie vitelliforme |
Is a |
False |
Hereditary macular dystrophy |
Inferred relationship |
Some |
|
Other Bruch's membrane dystrophy |
Is a |
False |
Hereditary macular dystrophy |
Inferred relationship |
Some |
|
North Carolina macular dystrophy |
Is a |
True |
Hereditary macular dystrophy |
Inferred relationship |
Some |
|
Fundus flavimaculatus |
Is a |
True |
Hereditary macular dystrophy |
Inferred relationship |
Some |
|
Stargardt's disease |
Is a |
True |
Hereditary macular dystrophy |
Inferred relationship |
Some |
|
Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull's eye configuration. |
Is a |
True |
Hereditary macular dystrophy |
Inferred relationship |
Some |
|
A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet. |
Is a |
True |
Hereditary macular dystrophy |
Inferred relationship |
Some |
|
A rare and severe inborn metabolic disease characterized clinically by the association of severe-to-profound neurodevelopmental impairment, severe visual impairment, ante-postnatal growth impairment, severe scoliosis and, frequently, early-onset epilepsy. |
Is a |
True |
Hereditary macular dystrophy |
Inferred relationship |
Some |
|
Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive bull eye maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages. |
Is a |
True |
Hereditary macular dystrophy |
Inferred relationship |
Some |
|
Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms. |
Is a |
True |
Hereditary macular dystrophy |
Inferred relationship |
Some |
|
A rare, genetic retinal disease characterized by the characteristic dried-out soil fundus pattern due to diffuse deep white lines in the macula, to the level of the retinal pigment epithelium, which is slightly elevated and rippled. Macular exudation may be associated, and Bruch's membrane may be affected too. Occasionally, peripheral nummular pigmentary changes may be observed, associated with blindness. The lesions enlarge with time, with a preferential macular extension and confluence. Complications may include polypoidal choroidal vasculopathy, choroidal neovascularization or atrophic fibrous macular scarring that can lead to reduced visual acuity over time. |
Is a |
False |
Hereditary macular dystrophy |
Inferred relationship |
Some |
|