Long-term follow-up of retinal function and structure in trpm1-associated complete congenital stationary night blindness
Al-Hujaili, Haneen ; Taskintuna, Ibrahim ; Neuhaus, Christine ; Bergmann, Carsten and Schatz, Patrik LU
(2019)
In Molecular Vision
25.
p.851-858
- Abstract
Purpose: TRPM1-associated congenital stationary night blindness (CSNB) is characterized by nystagmus and high myopia. We assessed retinal function and structure over long-term follow-up up to 10 years in two siblings from a family with the homozygous deletion c.2394delC in exon 18 that we previously identified. In addition, we describe retinal function and structure in two other siblings with the novel homozygous c.1394T>A (p.Met465Lys) missense mutation. Methods: Clinical examination included full-field electroretinography, axial length measurements, and multimodal retinal imaging. Molecular genetic tests included next-generation sequencing and Sanger sequencing. Results: All patients had non-recordable rod responses and... (More)
Purpose: TRPM1-associated congenital stationary night blindness (CSNB) is characterized by nystagmus and high myopia. We assessed retinal function and structure over long-term follow-up up to 10 years in two siblings from a family with the homozygous deletion c.2394delC in exon 18 that we previously identified. In addition, we describe retinal function and structure in two other siblings with the novel homozygous c.1394T>A (p.Met465Lys) missense mutation. Methods: Clinical examination included full-field electroretinography, axial length measurements, and multimodal retinal imaging. Molecular genetic tests included next-generation sequencing and Sanger sequencing. Results: All patients had non-recordable rod responses and electronegative configuration of the rod-cone responses at presentation. There was a median of 26% reduction in the dark-and light-adapted electroretinographic (ERG) amplitudes over 4 years. Myopia progressed rapidly in childhood but showed only a mild progression after the teenage years. Visual acuities were stable over time, and there was no sign of progressive retinal thinning. All patients had axial myopia. A novel homozygous c.1394T>A (p.Met465Lys) missense mutation in TRPM1 was identified in two siblings. Conclusions: Further prospective study in larger samples is needed to establish whether there is progressive retinal degeneration in TRPM1-associated CSNB. The associated myopia was found to be mainly axial, which has not been described previously. The mechanism of myopia development in this condition remains incompletely understood; however, it may be related to altered retinal dopamine signaling and amacrine cell dysfunction.
(Less)
- author
- Al-Hujaili, Haneen
; Taskintuna, Ibrahim
; Neuhaus, Christine
; Bergmann, Carsten
and Schatz, Patrik
LU
- organization
- publishing date
- 2019
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Molecular Vision
- volume
- 25
- pages
- 851 - 858
- publisher
- Molecular Vision
- external identifiers
-
- scopus:85077355776
- pmid:31908403
- ISSN
- 1090-0535
- language
- English
- LU publication?
- yes
- id
- 6a08649c-3797-4328-a0c0-1da656deb539
- date added to LUP
- 2020-01-17 13:43:44
- date last changed
- 2024-05-01 04:11:12
@article{6a08649c-3797-4328-a0c0-1da656deb539,
abstract = {{<p>Purpose: TRPM1-associated congenital stationary night blindness (CSNB) is characterized by nystagmus and high myopia. We assessed retinal function and structure over long-term follow-up up to 10 years in two siblings from a family with the homozygous deletion c.2394delC in exon 18 that we previously identified. In addition, we describe retinal function and structure in two other siblings with the novel homozygous c.1394T>A (p.Met465Lys) missense mutation. Methods: Clinical examination included full-field electroretinography, axial length measurements, and multimodal retinal imaging. Molecular genetic tests included next-generation sequencing and Sanger sequencing. Results: All patients had non-recordable rod responses and electronegative configuration of the rod-cone responses at presentation. There was a median of 26% reduction in the dark-and light-adapted electroretinographic (ERG) amplitudes over 4 years. Myopia progressed rapidly in childhood but showed only a mild progression after the teenage years. Visual acuities were stable over time, and there was no sign of progressive retinal thinning. All patients had axial myopia. A novel homozygous c.1394T>A (p.Met465Lys) missense mutation in TRPM1 was identified in two siblings. Conclusions: Further prospective study in larger samples is needed to establish whether there is progressive retinal degeneration in TRPM1-associated CSNB. The associated myopia was found to be mainly axial, which has not been described previously. The mechanism of myopia development in this condition remains incompletely understood; however, it may be related to altered retinal dopamine signaling and amacrine cell dysfunction.</p>}},
author = {{Al-Hujaili, Haneen and Taskintuna, Ibrahim and Neuhaus, Christine and Bergmann, Carsten and Schatz, Patrik}},
issn = {{1090-0535}},
language = {{eng}},
pages = {{851--858}},
publisher = {{Molecular Vision}},
series = {{Molecular Vision}},
title = {{Long-term follow-up of retinal function and structure in trpm1-associated complete congenital stationary night blindness}},
volume = {{25}},
year = {{2019}},
}