Abdulaziz Abdulrahman Al Oreany1, Abdulaziz Al Hadlaq1, Patrik Schatz2,3,4. 1. Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. 2. Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. patrik.schatz@med.lu.se. 3. Department of Ophthalmology, Clinical Sciences, Scane County University Hospital, University of Lund, Lund, Sweden. patrik.schatz@med.lu.se. 4. Executive Medical Department, King Khaled Eye Specialist Hospital, Al-Oruba Street, PO Box 7191, Riyadh, 11462, Saudi Arabia. patrik.schatz@med.lu.se.
Abstract
PURPOSE: To describe congenital stationary night blindness (CSNB) with negative electroretinogram, hypoplastic discs, nystagmus and thinning of the inner nuclear layer (INL). METHODS: Retinal structure was analyzed qualitatively with spectral domain optical coherence tomography and wide field imaging. Retinal function was evaluated with full-field electroretinography (ffERG). Molecular genetic testing included next-generation sequencing (NGS) of the known genes involved in CSNB. RESULTS: Patients presented with CSNB presented with nystagmus, high myopia, hypoplastic discs and negative ffERG with no measurable rod response. The retinas appeared normal and automated segmentation of retinal layers demonstrated a relative reduction of thickness of the INL. There was no significant change in the ffERG after prolonged 2 hour dark adaptation compared to standard 30 minute dark adaptation. Affected family members harboured the homozygous 1-bp deletion c.2394delC in exon 18 of the TRPM1 gene, whereas their unaffected parents were heterozygous carriers. CONCLUSIONS: This data expands the genotype and phenotype spectrum of CSNB. The lack of improvement of rod responses after prolonged dark adaptation, together with thinning of the INL, is compatible with postreceptoral transmission dysfunction in the bipolar cells. Such knowledge may prove useful in future development of treatment for outer retinal dystrophies, using opsin genes to restore light responses in survivor neurons in the inner retina.
PURPOSE: To describe congenital stationary night blindness (CSNB) with negative electroretinogram, hypoplastic discs, nystagmus and thinning of the inner nuclear layer (INL). METHODS: Retinal structure was analyzed qualitatively with spectral domain optical coherence tomography and wide field imaging. Retinal function was evaluated with full-field electroretinography (ffERG). Molecular genetic testing included next-generation sequencing (NGS) of the known genes involved in CSNB. RESULTS:Patients presented with CSNB presented with nystagmus, high myopia, hypoplastic discs and negative ffERG with no measurable rod response. The retinas appeared normal and automated segmentation of retinal layers demonstrated a relative reduction of thickness of the INL. There was no significant change in the ffERG after prolonged 2 hour dark adaptation compared to standard 30 minute dark adaptation. Affected family members harboured the homozygous 1-bp deletion c.2394delC in exon 18 of the TRPM1 gene, whereas their unaffected parents were heterozygous carriers. CONCLUSIONS: This data expands the genotype and phenotype spectrum of CSNB. The lack of improvement of rod responses after prolonged dark adaptation, together with thinning of the INL, is compatible with postreceptoral transmission dysfunction in the bipolar cells. Such knowledge may prove useful in future development of treatment for outer retinal dystrophies, using opsin genes to restore light responses in survivor neurons in the inner retina.
Authors: Thaddeus P Dryja; Terri L McGee; Eliot L Berson; Gerald A Fishman; Michael A Sandberg; Kenneth R Alexander; Deborah J Derlacki; Aruna S Rajagopalan Journal: Proc Natl Acad Sci U S A Date: 2005-03-21 Impact factor: 11.205
Authors: Christina Zeitz; Ursula Forster; John Neidhardt; Silke Feil; Stefan Kälin; Dorothee Leifert; Peter J Flor; Wolfgang Berger Journal: Hum Mutat Date: 2007-08 Impact factor: 4.878
Authors: N T Bech-Hansen; M J Naylor; T A Maybaum; R L Sparkes; B Koop; D G Birch; A A Bergen; C F Prinsen; R C Polomeno; A Gal; A V Drack; M A Musarella; S G Jacobson; R S Young; R G Weleber Journal: Nat Genet Date: 2000-11 Impact factor: 38.330
Authors: Mieke M C Bijveld; Ralph J Florijn; Arthur A B Bergen; L Ingeborgh van den Born; Maarten Kamermans; Liesbeth Prick; Frans C C Riemslag; Mary J van Schooneveld; Astrid M L Kappers; Maria M van Genderen Journal: Ophthalmology Date: 2013-05-25 Impact factor: 12.079
Authors: Isabelle Audo; Susanne Kohl; Bart P Leroy; Francis L Munier; Xavier Guillonneau; Saddek Mohand-Saïd; Kinga Bujakowska; Emeline F Nandrot; Birgit Lorenz; Markus Preising; Ulrich Kellner; Agnes B Renner; Antje Bernd; Aline Antonio; Veselina Moskova-Doumanova; Marie-Elise Lancelot; Charlotte M Poloschek; Isabelle Drumare; Sabine Defoort-Dhellemmes; Bernd Wissinger; Thierry Léveillard; Christian P Hamel; Daniel F Schorderet; Elfride De Baere; Wolfgang Berger; Samuel G Jacobson; Eberhart Zrenner; José-Alain Sahel; Shomi S Bhattacharya; Christina Zeitz Journal: Am J Hum Genet Date: 2009-11-05 Impact factor: 11.025
Authors: Virginia Miraldi Utz; Wanda Pfeifer; Susannah Q Longmuir; Richard John Olson; Kai Wang; Arlene V Drack Journal: JAMA Ophthalmol Date: 2018-04-01 Impact factor: 7.389
Authors: Annie Oh; Ellis R Loew; Melanie L Foster; Michael G Davidson; Robert V English; Kristen J Gervais; Ian P Herring; Freya M Mowat Journal: Doc Ophthalmol Date: 2018-07-26 Impact factor: 2.379
Authors: J E Self; M J Dunn; J T Erichsen; I Gottlob; H J Griffiths; C Harris; H Lee; J Owen; J Sanders; F Shawkat; M Theodorou; J P Whittle Journal: Eye (Lond) Date: 2020-01-09 Impact factor: 3.775