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Journals / Güncel Retina Dergisi / 2021 / Cilt: 5 - Sayı: 2

Congenital Stationary Night Blindness: Pathophysiology, Signs, Diagnosis and Treatment

Konjenital Durağan Gece Körlükleri; Patofizyoloji, Bulgular, Tanı ve Tedavi

Mücella Arıkan YORGUN
Pages
155–158
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Clinical, electrophysiological and molecular genetics about CSNB are reviewed in this paper.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Congenital stationary night blindness (CSNB) is a nonprogressive inherited retinal disorder characterized by lifelong night blindness.
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Key Findings & Data:The Schubert-Bornschein type is the most common type of CSNB.
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Conclusion & Impact:Clinical, electrophysiological and molecular genetics about CSNB are reviewed in this paper.
🔬Design:Review & Systematic Survey
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Congenital stationary night blindness (CSNB) is a nonprogressive inherited retinal disorder characterized by lifelong night blindness. The Schubert-Bornschein type is the most common type of CSNB. The disease is most commonly inherited as an X-linked recessive trait, but can also have autosomal recessive and rarely autosomal dominant inheritance. Clinical, electrophysiological and molecular genetics about CSNB are reviewed in this paper.

Özet

Konjenital durağan gece körlüğü (KDGK), hayat boyu gece körlüğü ile karakterize ilerleyici olmayan kalıtsal retinal bir hastalıktır. Schubert-Bornschein tipi en sık görülen tiptir. Çoğunlukla X’e bağlı kalıtılmaktayken, otozomal resesif ve nadiren otozomal dominant kalıtılabilmektedir. Bu yazıda KDGK’nin klinik, elektrofizyolojik ve moleküler genetik özellikleri değerlendirilecektir.

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Cite This Article

YORGUN, M. A. (2021). Congenital Stationary Night Blindness: Pathophysiology, Signs, Diagnosis and Treatment. Güncel Retina Dergisi, Cilt: 5 - Sayı: 2, 155–158. https://ajindex.com/articles/218400

References (9)

  1. Zeitz C, Forster U, Neidhardt J, Feil S, Kalin S, Leifert D, et al. Night blindness-associated mutations in the ligand-binding, cysteine rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking. Hum. Mutat. 2007; 28(8):771-780.
  2. Cukras CA, Zein WM, Caruso RC, Sieving PA. Progressive and “stationary” inherited retinal degenerations. In: Yanoff M, Duker JS, eds. Ophthalmology. 4th ed. Philadelphia, PA: Elsevier; 2014; 480-490. Dryja TP. Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture. Am J Ophthalmol. 2000; 130(5):547-563.
  3. Zeitz C, Robson A, Audo I. Congenital stationary night blindness: An analysis and update of genotypeephenotype correlations and pathogenicmechanisms. Prog Retin Eye Res. 2015;45:58-110.
  4. Tsang SH., Sharma T. Congenital Stationary Night Blindness. In: Tsang S, Sharma T. (eds) Atlas of Inherited Retinal Diseases. Switzerland: Springer; 2018; 61-64.
  5. Sahel J, Marazova K, Audo I. Clinical Characteristics and Current Therapies for Inherited Retinal Degenerations. Cold Spring Harb Perspect Med. 2014;5(2):a017111. Zeitz C, Jacobson SG, Hamel CP, Bujakowska K, Neuille M, et al. Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet 2013; 92(1): 67–75.
  6. Audo I, Robson AG, Holder GE, Moore AT. The negative ERG: Clinical phenotypes and disease mechanisms of inner retinal dysfunction. Surv Ophthalmol 2008;53(1):16–40. Riggs LA. Electroretinography in cases of night blindness. Am J Ophthalmol. 1954;38(1:2):70-78.
  7. Schubert G, Bornschein H. Analysis of the human electroretinogram. Ophthalmologica 1952; 123(6):39-413. Dryja TP. Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture. Am J Ophthalmol 2000;130(5):547–563.
  8. Miyake Y, Yagasaki K, Horiguchi M, Kawase Y, Kanda T. Congenital stationary night blindness with negative electroretinogram. A new classification. Arch. Ophthalmol. 1986; 104(7):1013-1020.
  9. Yamamoto H, Simon A, Eriksson U, Harris E, Berson EL, Dryja TP. Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. Nat. Genet. 1999;22(2):188-191. Marmor MF. Long-term follow-up of the physiologic abnormalities and fundus changes in fundus albipunctatus. Ophthalmology 1990; 97(3)