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Retinitis pigmentosa 13
Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene. [from MONDO]
Multiple epiphyseal dysplasia, Beighton type
A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia, visual impairment (with early-onset progressive myopia, retinal thinning, and cataracts), and conductive hearing loss. Patients are of short stature and present brachydactyly, genu valgus deformity, and joint pain. [from ORDO]
Retinitis pigmentosa 83
Retinitis pigmentosa-83 (RP83) is characterized by onset of night blindness in the first decade of life, with decreased central vision in the second decade of life in association with retinal degeneration. The retinal dystrophy is associated with cataract, and macular edema has also been reported in some patients (Holtan et al., 2019). [from OMIM]
Asteroid hyalosis
The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits. [from HPO]
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