Blindness, Bone spicule pigmentation of the retina, Cataract, Chorioretinal degeneration, Conductive hearing impairment, Congenital stationary night blindness, Constriction of peripheral visual field, Decreased light- and dark-adapted electroretinogram amplitude, Fundus albipunctatus, Glaucoma, High myopia, Hyperinsulinemia, Hyperreflexia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Myopia, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Optic disc hypoplasia, Photophobia, Pigmentary retinopathy, Progressive night blindness, Reduced visual acuity, Retinal flecks, Rod-cone dystrophy, Sensorineural hearing impairment, Strabismus, Type II diabetes mellitus, Undetectable light- and dark-adapted electroretinogram, Visual field defect, Visual impairment, Wide nasal bridge

abnormal retina photoreceptor morphology, abnormal retina pigment epithelium morphology, abnormal retina rod cell outer segment morphology, abnormal retina vasculature morphology, abnormal retinol level, abnormal rod electrophysiology, absent b-wave, absent photoreceptor outer segment, decreased a-wave amplitude, decreased b-wave amplitude, decreased retina inner nuclear layer thickness, decreased retina photoreceptor cell number, decreased retina rod cell number, decreased total retina thickness, delayed dark adaptation, disorganized photoreceptor inner segment, disorganized photoreceptor outer segment, disorganized retina layers, disorganized retina outer nuclear layer, increased retina apoptosis, microgliosis, photosensitivity, retina cone cell degeneration, retina outer nuclear layer degeneration, retina photoreceptor degeneration, retina rod cell degeneration, short photoreceptor outer segment, thin retina outer nuclear layer, thin retina outer plexiform layer, vision/eye phenotype