In the following list you will find some of the most common rare diseases related to Cataract and Rod-cone dystrophy that can help you solving undiagnosed cases.
Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal dystrophies characterized by a progressive degeneration of photoreceptors, eventually resulting in severe visual impairment.For a discussion of genetic heterogeneity of RP, see {268000}.
Related symptoms:
Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (OMIM ) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3 ) have progressive hearing loss.For a discussion of genetic heterogeneity of Usher syndrome type I, see USH1 (OMIM ).
USHER SYNDROME, TYPE IC; USH1C Is also known as usher syndrome, type i, acadian variety
Related symptoms:
Autosomal dominant retinitis pigmentosa (ADRP) is characterized by a typical fundus appearance, narrowed retinal vessels, and changes in the electrophysiological responses of the eye. Early signs are night blindness and constriction of the visual fields with a variable ages of onset (summary by Jay et al., 1992).
Related symptoms:
Symptoms // Phenotype | % cases |
---|---|
Nyctalopia | Very Common - Between 80% and 100% cases |
Blindness | Common - Between 50% and 80% cases |
Reduced visual acuity | Uncommon - Between 30% and 50% cases |
Posterior subcapsular cataract | Uncommon - Between 30% and 50% cases |
Macular edema | Uncommon - Between 30% and 50% cases |
Patients with Cataract and Rod-cone dystrophy. may also develop some of the following symptoms:
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