Journal article
Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D
American journal of ophthalmology, Vol.190, pp.58-68
06/2018
DOI: 10.1016/j.ajo.2018.03.021
PMID: 29559409
Abstract
GUCY2D has been associated with autosomal recessive Leber congenital amaurosis and autosomal dominant cone-rod dystrophy. This report expands the phenotype of autosomal recessive mutations to congenital night blindness, which may slowly progress to mild retinitis pigmentosa. Retrospective case series. Multicenter study of 5 patients (3 male, 2 female). All patients presented with night blindness since childhood. Age at referral was 9-45 years. Length of follow-up was 1-7 years. Best-corrected visual acuity at presentation ranged from 20/15 to 20/30 and at most recent visit averaged 20/25. No patient had nystagmus or high refractive error. ISCEV standard electroretinography revealed nondetectable dark-adapted dim flash responses and reduced amplitude but not electronegative dark-adapted bright flash responses with similar waveforms to the reduced-amplitude light-adapted single flash responses. The 30 Hz flicker responses were relatively preserved. Macular optical coherence tomography revealed normal lamination in 3 patients, with abnormalities in 2. Goldmann visual fields were normal at presentation in children but constricted in 1 adult. One child showed loss of midperipheral fields over time. Fundus appearance was normal in childhood; the adult had sparse bone spicule-like pigmentation. Full-field stimulus testing (FST) revealed markedly decreased retinal sensitivity to light. Dark adaptation demonstrated lack of rod-cone break. Two patients had tritanopia. All 5 had compound heterozygous mutations in GUCY2D. Three of the 5 patients harbor the Arg768Trp mutation reported in GUCY2D-associated Leber congenital amaurosis. Autosomal recessive GUCY2D mutations may cause congenital night blindness with normal acuity and refraction, and unique electroretinography. Progression to mild retinitis pigmentosa may occur.
Details
- Title: Subtitle
- Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D
- Creators
- Maria L Stunkel - Institute for Vision Research, Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USAScott E Brodie - Department of Ophthalmology, Icahn School of Medicine at Mount Sinai, New York, New York, USAArtur V Cideciyan - Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USAWanda L Pfeifer - Institute for Vision Research, Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USAElizabeth L Kennedy - Institute for Vision Research, Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USAEdwin M Stone - Institute for Vision Research, Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USASamuel G Jacobson - Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USAArlene V Drack - Institute for Vision Research, Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA. Electronic address: arlene-drack@uiowa.edu
- Resource Type
- Journal article
- Publication Details
- American journal of ophthalmology, Vol.190, pp.58-68
- DOI
- 10.1016/j.ajo.2018.03.021
- PMID
- 29559409
- NLM abbreviation
- Am J Ophthalmol
- ISSN
- 0002-9394
- eISSN
- 1879-1891
- Publisher
- United States
- Language
- English
- Date published
- 06/2018
- Academic Unit
- Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
- Record Identifier
- 9983980086602771
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