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Retinitis pigmentosa inversa

MedGen UID:
867201
Concept ID:
C4021559
Disease or Syndrome
Synonym: Central retinitis pigmentosa
 
HPO: HP:0008035

Definition

Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRetinitis pigmentosa inversa

Conditions with this feature

Severe early-childhood-onset retinal dystrophy
MedGen UID:
383691
Concept ID:
C1855465
Disease or Syndrome
Stargardt macular degeneration is a genetic eye disorder that causes progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, Stargardt macular degeneration affects a small area near the center of the retina called the macula. The macula is responsible for the type of vision needed for detailed tasks such as reading, driving, and recognizing faces. In most people with Stargardt macular degeneration, a fatty yellow pigment called lipofuscin builds up in cells underlying the macula. Over time, the abnormal accumulation of this substance can damage cells that are critical for clear vision. People with Stargardt macular degeneration have problems with night vision that can make it difficult to navigate in low light. Some affected individuals also have impaired color vision. The signs and symptoms of Stargardt macular degeneration typically appear in late childhood to early adulthood and worsen over time.

Recent clinical studies

Etiology

Lyon GJ, Marchi E, Ekstein J, Meiner V, Hirsch Y, Scher S, Yang E, De Vivo DC, Madrid R, Li Q, Wang K, Haworth A, Chilton I, Chung WK, Velinov M
Cold Spring Harb Mol Case Stud 2019 Dec;5(6) Epub 2019 Dec 13 doi: 10.1101/mcs.a003715. PMID: 31387860Free PMC Article
Ferrucci S, Anderson SF, Townsend JC
Optom Vis Sci 1998 Aug;75(8):560-70. doi: 10.1097/00006324-199808000-00021. PMID: 9734800

Diagnosis

Blanco-Kelly F, Rodrigues-Jacy da Silva L, Sanchez-Navarro I, Riveiro-Alvarez R, Lopez-Martinez MA, Corton M, Ayuso C
BMC Med Genet 2017 Jan 7;18(1):1. doi: 10.1186/s12881-016-0364-5. PMID: 28061825Free PMC Article
Sheth S, Rush R, Narayanan R
Eur J Ophthalmol 2011 Jul-Aug;21(4):509-12. doi: 10.5301/EJO.2011.6264. PMID: 21279981
Ferrucci S, Anderson SF, Townsend JC
Optom Vis Sci 1998 Aug;75(8):560-70. doi: 10.1097/00006324-199808000-00021. PMID: 9734800

Therapy

Ferrucci S, Anderson SF, Townsend JC
Optom Vis Sci 1998 Aug;75(8):560-70. doi: 10.1097/00006324-199808000-00021. PMID: 9734800

Prognosis

Ferrucci S, Anderson SF, Townsend JC
Optom Vis Sci 1998 Aug;75(8):560-70. doi: 10.1097/00006324-199808000-00021. PMID: 9734800

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