Presentation
Eyes
- Strabismus
Refsum Disease AR 100 34 of 34 PITPNM3 Cone-Rod Dystrophy AD 99.8 7 of 7 PMM2 Congenital Disorder Of Glycosylation Type Ia AR 100 127 of 129 POC1B Cone Rod Dystrophy AR 99.87 10 of 10 POGZ White-Sutton Syndrome, Intellectual Disability- Microcephaly-Strabismus [igenomix.es]
- Visual Impairment
Foundations of Education, Second Edition Vol I: History and Theory of Teaching Children and Youths with Visual Impairments. AFB Press. p. 25. [en.wikipedia.org]
Treatment
Clinical trial of docosahexaenoic acid in patients with retinitis pigmentosa receiving vitamin A treatment. Arch. Ophthalmol. 2004;122(9):1297-305 25) Hassof RW, Fishman GA. [malattierare.regione.veneto.it]
Drug therapy is the primary treatment. Systemic carbonic anhydrase inhibitors, such as oral acetazolamide or topical dorzolamide, are still the mainstays of initial therapy. [pubmed.ncbi.nlm.nih.gov]
Epidemiology
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome. [pubmed.ncbi.nlm.nih.gov]
Pathophysiology
The establishment of therapeutic approaches is limited by our poor understanding of the pathophysiology of CME in patients with RP. [pubmed.ncbi.nlm.nih.gov]