retinal dystrophies


Summary: A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues.

Top Publications

  1. Wolfson Y, Applegate C, Strauss R, Han I, Scholl H. CRB1-Related Maculopathy With Cystoid Macular Edema. JAMA Ophthalmol. 2015;133:1357-60 pubmed publisher
  2. Li L, Chen Y, Jiao X, Jin C, Jiang D, Tanwar M, et al. Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. Invest Ophthalmol Vis Sci. 2017;58:2218-2238 pubmed publisher
  3. Sadagopan K. Practical approach to syndromic pediatric retinal dystrophies. Curr Opin Ophthalmol. 2017;28:416-429 pubmed publisher
    ..and systematic systemic examination, describe the important systemic findings seen in pediatric syndromic retinal dystrophies and highlight the role of genetic testing...
  4. Courtney R, Pennesi M. Retinal dystrophy in 2 brothers with ?-Mannosidosis. Arch Ophthalmol. 2011;129:799-802 pubmed publisher
  5. Khan K, El Asrag M, Ku C, Holder G, McKibbin M, Arno G, et al. Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy. Invest Ophthalmol Vis Sci. 2017;58:2906-2914 pubmed publisher
    ..The data also shed light on the underlying pathogenesis by implicating the photoreceptor synaptic terminals as the major site of retinal disease. ..
  6. Braverman I, Blumen S, Newman H, Rizel L, Khayat M, Hanna R, et al. Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes. Genet Test Mol Biomarkers. 2017;21:450-453 pubmed publisher
    ..Moreover, they indicate that Bukhara Jewish OPMD patients are at high risk for carrying the NRL mutation, and should be offered appropriate genetic counseling and testing. ..
  7. Boulanger Scemama E, Akesbi J, Tick S, Mohand Said S, Sahel J, Audo I. Multimodal imaging and functional correlations identify unusual cases of macular retinal pigment epithelium hypopigmentation occurring without functional loss. Doc Ophthalmol. 2017;135:77-83 pubmed publisher
    ..Macular RPE hypopigmentation should be considered in case of an isolated macular lesion without functional visual impairment or anatomical defect on SD-OCT. ..
  8. Kumaran N, Moore A, Weleber R, Michaelides M. Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions. Br J Ophthalmol. 2017;101:1147-1154 pubmed publisher
    ..We discuss in further detail the diagnostic clinical features, pathophysiology, animal models and human treatment studies and trials, in the more common genetic subtypes and/or those closest to intervention. ..
  9. Hendriks M, Verhoeven V, Buitendijk G, Polling J, Meester Smoor M, Hofman A, et al. Development of Refractive Errors-What Can We Learn From Inherited Retinal Dystrophies?. Am J Ophthalmol. 2017;182:81-89 pubmed publisher
    ..As inherited retinal dystrophies (IRD) are characterized by dysfunction of a single retinal cell type and have a high risk of refractive ..

More Information


  1. Birtel J, Gliem M, Mangold E, Tebbe L, Spier I, Müller P, et al. Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy. Invest Ophthalmol Vis Sci. 2017;58:3950-3959 pubmed publisher
    ..KIF11 should be considered in the screening of patients with retinal dystrophies because other syndromic manifestations may be subtle...
  2. Myers M, Iannaccone A, Bidelman G. A pilot investigation of audiovisual processing and multisensory integration in patients with inherited retinal dystrophies. BMC Ophthalmol. 2017;17:240 pubmed publisher
    ..processing in normal and visually impaired individuals who exhibit partial loss of vision due to inherited retinal dystrophies (IRDs)...