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Progressive night blindness

MedGen UID:
870373
Concept ID:
C4024818
Disease or Syndrome; Finding
Synonym: Night blindness, progressive
 
HPO: HP:0007675

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVProgressive night blindness

Conditions with this feature

Bietti crystalline corneoretinal dystrophy
MedGen UID:
347895
Concept ID:
C1859486
Disease or Syndrome
Bietti crystalline dystrophy (BCD) is a chorioretinal degeneration characterized by the presence of yellow-white crystals and/or complex lipid deposits in the retina and (to a variable degree) the cornea. Progressive atrophy and degeneration of the retinal pigment epithelium (RPE) / choroid lead to symptoms similar to those of other forms of retinal degeneration that fall under the category of retinitis pigmentosa and allied disorders, namely: reduced visual acuity, poor night vision, abnormal retinal electrophysiology, visual field loss, and often impaired color vision. Marked asymmetry between eyes is not uncommon. Onset is typically during the second to third decade of life, but ranges from the early teenage years to beyond the third decade. With time, loss of peripheral visual field, central acuity, or both result in legal blindness in most if not all affected individuals.
Cone-rod dystrophy 6
MedGen UID:
400963
Concept ID:
C1866293
Disease or Syndrome
The first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus).\n\nThere are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.\n\nCone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.
Retinitis pigmentosa 85
MedGen UID:
1682947
Concept ID:
C5193041
Disease or Syndrome

Professional guidelines

PubMed

Stingl K, Priglinger C, Herrmann P
Klin Monbl Augenheilkd 2024 Mar;241(3):259-265. Epub 2024 Mar 20 doi: 10.1055/a-2227-3671. PMID: 38508214
Nguyen XT, Moekotte L, Plomp AS, Bergen AA, van Genderen MM, Boon CJF
Int J Mol Sci 2023 Apr 19;24(8) doi: 10.3390/ijms24087481. PMID: 37108642Free PMC Article
Emens JS, Eastman CI
Drugs 2017 Apr;77(6):637-650. doi: 10.1007/s40265-017-0707-3. PMID: 28229310

Recent clinical studies

Etiology

Kimberling W, Smith RJ
Otolaryngol Clin North Am 1992 Oct;25(5):923-34. PMID: 1408196
Lewis RA, Otterud B, Stauffer D, Lalouel JM, Leppert M
Genomics 1990 Jun;7(2):250-6. doi: 10.1016/0888-7543(90)90547-8. PMID: 1971808

Diagnosis

Song WK, Clouston P, MacLaren RE
Ophthalmic Genet 2019 Oct;40(5):461-465. Epub 2019 Oct 22 doi: 10.1080/13816810.2019.1678176. PMID: 31638456
Sengillo JD, Lee W, Bakhoum MF, Cho GY, Chiang JP, Tsang SH
Retin Cases Brief Rep 2018 Fall;12 Suppl 1(Suppl 1):S67-S71. doi: 10.1097/ICB.0000000000000647. PMID: 29045269Free PMC Article
Pitchon E, Sahli O, Borruat FX
Klin Monbl Augenheilkd 2006 May;223(5):443-6. doi: 10.1055/s-2006-926830. PMID: 16705527
Musarella MA, Burghes A, Anson-Cartwright L, Mahtani MM, Argonza R, Tsui LC, Worton R
Am J Hum Genet 1988 Oct;43(4):484-94. PMID: 2902787Free PMC Article
Lesko JG, Lewis RA, Nussbaum RL
Am J Hum Genet 1987 Apr;40(4):303-11. PMID: 2883887Free PMC Article

Therapy

Tanzer F, Firat M, Alagoz M, Erdogan H
BMJ Case Rep 2011 Mar 15;2011 doi: 10.1136/bcr.07.2010.3200. PMID: 22698901Free PMC Article
Pitchon E, Sahli O, Borruat FX
Klin Monbl Augenheilkd 2006 May;223(5):443-6. doi: 10.1055/s-2006-926830. PMID: 16705527

Prognosis

Song WK, Clouston P, MacLaren RE
Ophthalmic Genet 2019 Oct;40(5):461-465. Epub 2019 Oct 22 doi: 10.1080/13816810.2019.1678176. PMID: 31638456
Lin J, Nishiguchi KM, Nakamura M, Dryja TP, Berson EL, Miyake Y
J Med Genet 2005 Jun;42(6):e38. doi: 10.1136/jmg.2004.029066. PMID: 15937078Free PMC Article

Clinical prediction guides

Jiao X, Munier FL, Iwata F, Hayakawa M, Kanai A, Lee J, Schorderet DF, Chen MS, Kaiser-Kupfer M, Hejtmancik JF
Am J Hum Genet 2000 Nov;67(5):1309-13. Epub 2000 Sep 21 doi: 10.1016/S0002-9297(07)62960-7. PMID: 11001583Free PMC Article
Lewis RA, Otterud B, Stauffer D, Lalouel JM, Leppert M
Genomics 1990 Jun;7(2):250-6. doi: 10.1016/0888-7543(90)90547-8. PMID: 1971808
Musarella MA, Burghes A, Anson-Cartwright L, Mahtani MM, Argonza R, Tsui LC, Worton R
Am J Hum Genet 1988 Oct;43(4):484-94. PMID: 2902787Free PMC Article

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