| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| HP:0000523 | Subcapsular cataracts | |
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| HP:0000541 | Detached retina | |
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| HP:0000618 | Blindness | |
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| HP:0001103 | Abnormality of the macula | |
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| HP:0001136 | Retinal arteriolar tortuosity | |
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| HP:0001147 | Retinal exudates | |
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| HP:0001489 | Vitreous detachment | |
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| HP:0001493 | Falciform retinal folds | |
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| HP:0001518 | Low birth weight | |
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| HP:0001622 | Premature birth | |
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| HP:0002757 | Recurrent fractures | "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators] |
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| HP:0003593 | Early onset | |
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| HP:0003677 | Slow progression | |
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| HP:0007663 | Decreased central vision | |
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| HP:0007685 | Peripheral retinal avascularization | |
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| HP:0007902 | Vitreous hemorrhage | |
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| HP:0007917 | Tractional retinal detachment | |
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| HP:0030490 | Exudative vitreoretinopathy | |
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| HP:0030666 | Retinal neovascularization | "In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment." [PMID:23329331] |
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